CURRICULUM VITAE NAME Aravinda Chakravarti DATE OF BIRTH 6 February, 1954 PLACE OF BIRTH Calcutta, India SEX Male ADDRESS McKusick - Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine 600 N. Wolfe Street Jefferson Street Building, 2-109 Baltimore, MD 21287 (410) 502-7525 (telephone) (410) 502-7544 (telefax) aravinda@jhmi.edu (e-mail) PROFESSIONAL APPOINTMENTS 2000- Henry J. Knott Professor & Director McKusick - Nathans Institute of Genetic Medicine Professor of Medicine Professor of Pediatrics Professor of Molecular Biology & Genetics Johns Hopkins University School of Medicine 2003 Professor of Biostatistics Bloomberg School of Public Health Johns Hopkins University School of Medicine 2000-2002 Adjunct Professor of Genetics Department of Genetics Case Western Reserve University 1998-2000 James H. Jewell Professor of Genetics Department of Genetics Case Western Reserve University 1996-2000 Professor of Medicine Ireland Cancer Center Case Western Reserve University 1994-2000 Professor of Genetics Department of Genetics Center for Human Genetics Case Western Reserve University 1994-2000 Adjunct Professor of Psychiatry Department of Psychiatry University of Pittsburgh 1991-1993 Professor of Human Genetics and Psychiatry Department of Human Genetics Department of Psychiatry University of Pittsburgh 1989-1991 Associate Professor of Human Genetics Department of Human Genetics University of Pittsburgh 1988-1993 Associate Professor of Psychiatry Associate Director, Molecular Neurobiology and Genetics Program Department of Psychiatry University of Pittsburgh School of Medicine 1987-1993 Member, Pittsburgh Cancer Institute University of Pittsburgh 1986-1991 Adjunct Associate Professor of Anthropology Department of Anthropology The Pennsylvania State University 1985-1989 Associate Professor of Human Genetics and Biostatistics Department of Biostatistics University of Pittsburgh 1982-1988 Member, Center for Multivariate Analysis University of Pittsburgh 1980-1985 Assistant Professor of Human Genetics and Biostatistics Department of Biostatistics University of Pittsburgh 1979-1980 Research Fellow Department of Epidemiology University of Washington Seattle, Washington 1974-1979 Graduate Assistant and Research Technician II Center for Demographic and Population Genetics University of Texas Health Science Center at Houston ACADEMIC RECORD Doctor of Philosophy, University of Texas Health Science Center at Houston, Graduate School of Biomedical Sciences, 1979. DISSERTATION: The Utility of Linked Marker Genes in Genetic Counseling (Human Genetics) Bachelor of Statistics (Honors), Indian Statistical Institute, Calcutta, India, 1974. MAJORS: Statistics, Mathematics; MINORS: Biology, Chemistry, Economics, English, Geology, Physics Indian School Certificate, Indian School Certificate Examination Board & the University of Cambridge, UK., 1969. SUBJECTS: English, Literature-in-English, Bengali, Physics, Chemistry, Mathematics, Biology ACADEMIC RECOGNITION 2003 2003 Board on Mathematical Sciences and their applications, National Academy of Science, USA Donald W. Reynolds Investigator, D. W. Reynolds Foundation, Johns Hopkins University School of Medicine 2003 Invited Lecturer, “The Genome of Homo sapiens”, Cold Spring Harbor Symposium, May 28 – June 3, 2003 2003 Richard A. Scott Lecture, Northwestern University School of Medicine, Chicago, IL 2003 Invited Lecturer, “From Double Helix to Human Sequence - and Beyond!”, National Institutes of Health, April 14 - 15, 2003 2003 Medical Students Distinguished Lecture, Loyola University Medical Center, Chicago, IL 2002 Charles Bluestone Lecture, American Society of Pediatric Otolaryngology 2001 Paul T. Baker Lecture, Pennsylvania State University 2000- Henry J. Knott Professor & Director, Johns Hopkins University School of Medicine 1998-2000 James H. Jewell Professor of Genetics, Case Western Reserve University 1997 Distinguished Alumnus, University of Texas Health Science Center at Houston, Graduate School of Biomedical Sciences, Houston, Texas 1992 Delta Omega Society (Omicron Chapter), Public Health Honor Society 1987-1992 NICHD Research Career Development Award, National Institutes of Health 1977 Who's Who Among Students in American Colleges and Universities 1977-1978 Merit Scholarship, University of Texas Health Science Center at Houston 1972 UNESCO Prize for Young Science Workers (India) 1971 National Science Talent Search Award (India) 1971 Jagadis Bose National Science Talent Search Award (India) ACADEMIC SERVICE 2003 Chair , HUMAN GENETICS & GENOMICS, Gordon Research Conference (August 3 – 8, 2003, Colby College, Waterville, ME) 2002 Organizer, SEQUENCE-BASED DISEASE GENE HUNTS, Banbury Center, Cold Spring Harbor Laboratory (April 29 – May 1, 2002) 2004 Advisory Board, Genetics and Public Policy Center, Poebe R. Berman Bioethics Institute, Johns Hopkins University 2002- Advisory Board, JHMI Microarray Core Facility, Johns Hopkins University School of Medicine 2002 Working Group on the Criteria for Cell-Based Therapies, Phoebe R. Berman Bioethics Institute, Johns Hopkins University School of Medicine 2002- Scientific Advisory Committee, Consorcio Promotor del Instituto de Medicina Genomica (National Institute of Genomic Medicine), Mexico 2002 Awards Committee, AMERICAN SOCIETY OF HUMAN GENETICS 2001 Member, International Advisory Committee XIX International Congress of Genetics 2003 2001 Organizer (with Michael Eisen, Michael Zhang), INTEGRATING GENOME SEQUENCE, SEQUENCE VARIATIOPN AND GENE EXPRESSION, Cold Spring Harbor Symposium, Cold Spring Harbor Laboratory (September 28 30, 2001) 2001 Vice Chair (with Edward Rubin), HUMAN MOLECULAR GENETICS, Gordon Research Conference (August 5 – 10, 2001, Salve Regina College, Newport, RI) 2001 Advisory Board, Institute of Cell Engineering, Johns Hopkins University School of Medicine 2001 Organizer (with Alan Balmain, Bruce Ponder), LOW PENETRANCE GENETIC MODIFIERS OF CANCER IN HUMANS AND MOUSE MODELS, American Association of Cancer Research Satellite Symposium (February 25 – March 1, 2001) 2001 Chair, Nomination Committee, AMERICAN SOCIETY OF HUMAN GENETICS 2001- Mouse Genomics and Genetics Scientific Panel, National Institutes of Health 2001 Advisory Board on Genomics, NIDDK, National Institutes of Health 2000- President’s Advisory Board, National Human Genome Center, Howard University, Washington, DC 2000 Public Affairs Executive Committee, FASEB (Federation of American Societies for Experimental Biology) 2000 Organizer (with Michael Brown, Luigi Luca Cavalli-Sforza, Colin Renfrew, Christopher Stringer, Antonio Torroni, Douglas Wallace), HUMAN ORIGINS & DISEASE, Cold Spring Harbor Millennium Meeting 2000 Organizer, PRIMATE GENETICS, Banbury Center Conference, Cold Spring Harbor Laboratory 1999 Scientific Advisory Committee, Comitato Telethon Fondazione Onlus, Rome, Italy 1999- 2000 Developmental Biology Strategic Planning Working Group, NICHD, NIH 2000 Executive Committee, FASEB (Federation of American Societies for Experimental Biology) 1999 Advisory Board on Functional Genomics, Burroughs Wellcome Fund 1999- 2000 Consensus Panel on Screening and Management of Phenylketonuria, NICHD, NIH 1998- Executive Zebrafish Advisory Committee, NIDDK and Trans-NIH Zebrafish Coordinating Committee 1998 Organizer, LARGE SCALE DISCOVERY AND GENETIC APPLICATIONS OF SNPs, Banbury Center Conference, Cold Spring Harbor Laboratory 1997- 2000 National Advisory Council, National Human Genome Research Institute, National Institutes of Health 1997-1998 Chair, Subcommittee on IIIrd 5-year Genome Project plan, National Advisory Council , National Human Genome Research Institute, National Institutes of Health 1997 Genetics Workgroup, National Institute of Mental Health 1996 Mammalian Genetics Study Section, National Institutes of Health 1996-1998 Board of Directors, AMERICAN SOCIETY OF HUMAN GENETICS 1995 Organizer, LOOKING TO THE NEXT GENERATION OF GENETIC ANALYSIS, Banbury Center Conference, Cold Spring Harbor Laboratory 1995- Professional Advisory Board, AMERICAN PSEUDO- OBSTRUCTION AND HIRSCHSPRUNG DISEASE SOCIETY, INC. 1994-1996 Database Committee, AMERICAN SOCIETY OF HUMAN GENETICS 1994-1998 Chair, Advisory Board, MENDELIAN INHERITANCE IN MAN 1994-1997 Advisory Board, Mouse Genome Informatics, JACKSON LABORATORY 1993-1996 Program Committee, AMERICAN SOCIETY OF HUMAN GENETICS 1993 Organizer, 4th KECK SYMPOSIUM ON COMPUTATIONAL BIOLOGY, University of Pittsburgh-Carnegie Mellon University-Pittsburgh Supercomputing Center 1992-1993 Executive Committee, W.M. Keck Advanced Center for Training in Computational Biology, University of Pittsburgh-Carnegie Mellon University-Pittsburgh Supercomputing Center 1992-1995 Working Group, National Institute of General Medical Sciences, Human Genetic Mutant Cell Repository 1992-1996 Human Chromosome 13 Editor, Genome Data Base 1991-1992 DNA Scientific Review Board, Division of Criminal Justice Services, State of New York 1991-1994 Genome Study Section, National Institutes of Health 1991-1993 Advisory Board, Baylor College of Medicine Human Genome Center 1990-1991 Program Committee, 8th International Congress of Human Genetics, Washington, D.C. 1990-1994 NIAAA Genetics of Alcoholism (COGA) Data Monitoring Board 1990 DISEASES, Organizer, GENETICS & MOLECULAR BIOLOGY OF COMPLEX Banbury Center Conference, Cold Spring Harbor Laboratory 1990 Board of Scientific Counselors, NIAAA 1989-1990 Human Genome Special Study Section, NIH 1989 Mammalian Genetics Study Section (Ad-hoc member), NIH 1987-1992 Research Career Development Award, National Institutes of Health 1983-1984 President, Pittsburgh Chapter, American Statistical Association 1981-1983 Vice President, Pittsburgh Chapter, American Statistical Association EDITORIAL BOARD SERVICE 2002 - Editorial Board, BIOESSAYS 2001 -2002 Editorial Board, CURRENT BIOLOGY 1999 -2008 Editorial Board, ANNUAL REVIEW OF GENOMICS & HUMAN GENETICS 1997- 2000 Editor-in-Chief, GENETIC EPIDEMIOLOGY 1995- Co-Editor-in Chief, GENOME RESEARCH 1995- Editorial Board, INDIAN JOURNAL OF HUMAN GENETICS 1995- Advisory Board, JOURNAL OF GENETICS 1995-2000 Editorial Board, HUMAN MOLECULAR GENETICS 1994-2000 Editorial Board, CYTOGENETICS and CELL GENETICS 1992- Advisory Board, EUROPEAN JOURNAL OF HUMAN GENETICS 1991-1997 Co-Editor-in-Chief GENETIC EPIDEMIOLOGY (with John J. Mulvihill) 1990-1992 Associate Editor, AMERICAN JOURNAL OF HUMAN GENETICS PROFESSIONAL SOCIETY MEMBERSHIPS American Association for the Advancement of Science American Society of Human Genetics Genetics Society of America International Genetic Epidemiology Society MAJOR FIELD OF ACADEMIC INTEREST: HUMAN GENETICS Research Interests: 1. Genetic predisposition and molecular mechanisms leading to complex diseases. 2. Genetic and physical mapping of genomes. 3. Population genetics, population structure and human molecular evolution. TEACHING EXPERIENCE University of Washington (1979-1980): Instructor for courses in Quantitative Genetics and Genetic Epidemiology University of Pittsburgh (1980-1993): Bios HuGen HuGen HuGen HuGen HuGen HuGen 2020: 2021: 2022: 2023: 2024: 2025: 2033: Path Analysis (1983-1984) Tutorials in Human Genetics Human Population Genetics Population Genetics and Evolution Advanced Topics in Human Genetics (1980-1990) Human Genetics Seminars (Coordinator: 1980-1991) Quantitative Genetics Also taught 2 lectures each in Human Genetics in the Medical School Genetics, Pathophysiology of Psychiatric Diseases and Neurobiology courses in the Medical School Case Western Reserve University (1994-1998): Gene Gene Gene Gene Gene 500: 504: 510: 512: 516: Advanced Eukaryotic Genetics I (Coordinator) Advanced Eukaryotic Genetics II (Coordinator) Human Genetics Structural Analysis of Complex Genomes Principles of Genetic Epidemiology Also taught lectures in the CWRU Medical School Genetics Course on gene and disease mapping Case Western Reserve University (1998-2000): Gene Gene Gene 500/504: 510: 512: Advanced Eukaryotic Genetics I & II Human Genetics (odd years) Structural Analysis of Complex Genomes (even years) Johns Hopkins University (2000-): ME ME ME ME 710723: : 44713: : Molecular Genetic Dissection of Complex Diseases Human Genetics (2 lectures) Introduction to Bioinformatics (1 lecture) Fundamentals of Genetics (1 lecture) STUDENTS AND FELLOWS GRADUATED (a) M.S. Students: Nancy J. Wahl (1983) A statistical study of molecular evolution of rates of nucleotide substitution and codon bias. Kenneth H. Buetow (1983) Polymorphism and non-random association in the human betaglobin cluster. Judith A. Badner (1984) Tests for linkage heterogeneity and non-random segregation: Simple linkage tests for complex genetic diseases. Thomas R. Marino (1985) A genetic linkage study of familial breast/ovarian cancer. Susan A. Slaugenhaupt (1988) A simulation study of the effect of recombination on genetic variability. Tara K. Cox (1988) Complex segregation analysis of Van der Woude Syndrome. Sarah Shaw (1989) Linkage analysis of the PMF locus and genetic loci on chromosome 21. Laura Lasher (1991) The estimation of genome length from genetic linkage data. Jennifer Scott (1993) Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation. Audrey Lynn (1993) Genetic analysis of Rheumatoid Arthritis. (b) Ph.D. Students: Sherri J. Bale (1984) A genetic study of familial colon cancer. Kenneth H. Buetow (1985) Multipoint gene mapping in man using seriation. Judith A. Badner (1988) A genetic study of Hirschsprung Disease. Susan A. Slaugenhaupt (1991) A genetic linkage study of Hirschsprung Disease. Tara K. Cox (1992) Automated Genetic Linkage Mapping: Development and performance assessment of an expert system computer program. Sarah S. Washington (1993) Radiation hybrid mapping of distal human chromosome 13q (13q31-34). Angrist, Misha (1996) Identification of Hirschsprung disease susceptibility genes. Erik Puffenberger (1996) Mapping susceptibility loci for Hirschsprung disease in a genetic isolate. Stacey Bolk (1998) Genetic dissection of a complex phenotype: Hirschsprung disease Hee-Kyung Hong (1998) Identification of new winged helix protein family genes, Mf1 and Hfh1, defective in mouse congenital hydrocephalus (ch) and satin (sa) mutants. Marc Halushka (1999) Dissecting nucleotide variation in hypertension candidate genes. Audrey Lynn (1999) Recombination analysis of the human genome. Minerva Carrasquillo (2000) Identification of genes involved in common diseases using population isolates. Debra Mathews (2002 ) Inter- and Intra-specific variation on the human X chromosome. (c) Postdoctoral fellows: Jeffrey Long (1986-1988) Human population structure Susan Halloran (1986-1988) Segregation and linkage analysis Viken Matossian (1992) Psychiatric genetics Sarah Shaw (1994-1996) Automated genotyping Myriam Fornage (1996-1998) Molecular Genetics of Hypertension Swapan Nath (1995-1998) Molecular Genetics of Schizophrenia Sanober Shaik (1997- 1999) Molecular Genetics of Schizophrenia Sanghamitra SenGupta (1998- 2000) Genetic variation on the X chromosome Hee-Kyung Hong (1999-2000 ) Expression analysis of mouse developmental genes Jenny McDonough (1999-2000) Molecular Genetics of Schizophrenia Audrey Lynn (1999-2000) Human gene mapping Denise Yan (1999-2002) Molecular Genetics of Hypertension David Cutler (1999-2002) Population genetics of sequence variation Minerva Carrasquillo (2001-2002) Hirschsprung disease genetics Michael Zwick (1999-2003 ) Genetic variation on human autosomes Andrew McCallion (1999-2003) Mouse models of Hirschsprung disease CURRENT STUDENTS AND FELLOWS (a) Ph.D. students: Shin Lin (2002-) Models of genome-wide association Adele Mitchell (2002-) Quantitative inheritance Jennifer Mulle (2002-) Psychiatric genetics (b) Postdoctoral fellows: Christy Chang (2001-) Molecular Genetics of Hypertension Eileen Emison (2001-) Molecular Genetics of Hirschsprung disease Dan Arking (2002-) Complex disease dissection Ann Heinzer (2003-) Genetics of Bipolar disease (c) Clinical fellows: Amit Rastogi (2001-2003) Hirschsprung disease GRANT SUPPORT (*current support in direct costs indicated) 1. BRSG, University of Pittsburgh, 1981, $8,000, Restriction analysis of human globin genes. 2. HRSF, United Way, 1982-83, $13,531, A study of sickle cell anemia using cloned DNA fragments. 3. Elsa U. Pardee Cancer Foundation, 1982-83, $11,885, Genetic studies in the cancer family syndrome: segregation and linkage analysis. 4. BRSG, University of Pittsburgh, 1982, $250, Alignment of DNA sequences. 5. NIH, Subcontract from Johns Hopkins University School of Medicine, 198286, $47,171 Genetic control of hemoglobin synthesis. 6. Magee Womens Hospital, 1984-85, $15,000, Genetic markers for endometrial cancer 7. BRSG, University of Pittsburgh, 1985-86, $15,000, Oncogenes in colon cancer 8. NIH, 1985-88, $123,232, Genetic heterogeneity in human disease. 9. NIH, Subcontract from Johns Hopkins University School of Medicine, 198588, $23,216, Genetic diseases associated with chromosome 21. 10. NIH, Subcontract from Johns Hopkins University School of Medicine, 198689, $26,275, Linkage studies in adult polycystic kidney disease. 11. NIH, 1987-1992, $802,249, Genetics and biology of ovarian teratomas. 12. NIH Research Career Development Award, 1987-1992, $256,000, Genetic studies of linkage and recombination 13. NIH, 1988-1993, $346,207, Genetic Heterogeneity in Human Disease. 14. NIH, 1989-1994, Subcontract from Johns Hopkins University School of Medicine, $120,000, Genes, Aneuploidy and Mammalian Development. 15. NIH, 1991-1993, $54,000, Chromosome 21: Linkage Map With Index Markers. 16. NIH, 1991-1996, $701,187, Genetic Analysis of Hirschsprung Disease. 17. Johnson & Johnson PRI, 1994-1995, $ 12,000, Genetics of male pattern baldness. 18. NIH, 1995-1996, $50,000, Genetic Map and Large Insert Library for the Rat Genome. 19. CWRU, 1995-1997, $150,000, Genetics of Schistosomiasis Susceptibility. 20. Sequana Therapeutics, 1996-1997, $123,000, Molecular Genetics of Bipolar Illness. 21. NIH, 1995-2000, $1,907,127, Genetic Epidemiology of Hypertension. *22. NIH, 1997-2002, $1,391,023, Genetic Analysis of Hirschsprung Disease. *23. NIMH, 1997-2002, $1,086,220, Genetic Susceptibility in Schizophrenia. 24. NIMH, 1997-2001, $1,200,00, Genetic Heterogeneity in Schizophrenia (terminated). 25. NIH, 1997-2002, $1,893,181, Genetics of Severe Hepatic Fibrosis in Schistosomiasis mansoni. 26. NIH,1997-2002, $643,024, Molecular Genetics of Hydrocephalus. *27. NIH, 1998-2002, $ 1,811,183, Human Genomic Sequence Variation: X Chromosome *28. NIH, 1998-2002, $ 4,497,951, Human Genomic Polymorphisms *29. NIH, 2000-2005, $1,836,562, Genetic Epidemiology of Hypertension. *30. NIH, 2002-2004, $ 744,712, Human Genomic Polymorphisms and Haplotypes. *31. Maryland Cigarette Restitution Fund , 2003, $ 100,000, SKCCC Cancer Prevention and Control Population Resource. *32. National Institutes of Health, 2003 - 2008, $ 2,245,000, Biology of Aging and Frailty *33. Donald W. Reynolds Foundation, 2003 - 2007, $ 1,400,000, Sudden Cardiac Death UNIVERSITY SERVICE Chairman, Core Technologies Committee, Johns Hopkins University (2003) Member, Molecular Biology & Genetics Chairman Search Committee, Johns Hopkins University (2002-2003) Member, Psychiatry Chairman Search Committee, Johns Hopkins University (2000-2001) Member, Chairman of Psychiatry Search Committee, Case Western Reserve University (1999) Executive Committee, Department of Genetics, Case Western Reserve University (1998-) Chairman, Graduate Committee, Department of Genetics, Case Western Reserve University (1995-1998) Chairman, Strategic Planning Committee, Graduate School of Public Health, University of Pittsburgh (1992 - 1993) Member, Senior Vice Chancellor for Health Sciences Search Committee, University of Pittsburgh (1992 -1993) Member, Internal Review Committee, Department of Infectious Diseases and Microbiology, Graduate School of Public Health, University of Pittsburgh (1992) Vice President, Faculty Senate Executive Committee, Graduate School of Public Health, University of Pittsburgh (1989 - 1991) University of Pittsburgh, Conflict of Interest Committee (1989 - 1991) Admissions Committee, Graduate School of Public Health, University of Pittsburgh, 1984-1987. International Dimensions Committee, Graduate School of Public Health, University of Pittsburgh, 1981-1993. Safety and Security Committee, Graduate School of Public Health, University of Pittsburgh, 1980-1989. CONSULTANCY 2004Member, International Advisory Board, Chemtech+ PharmaWorldexpo 2005 2005 2002Scientific Advisory Board, Pxysis, Chicago, IL 2001- Genome Institute of Singapore, Singapore 2001 Human Genetics and Genomics, Columbia University, New York, NY 2000- Scientific Advisory Board, Affymetrix, Santa Clara, CA 1998- 2001 Scientific Advisory Board, Genomica Corporation, Boulder, CO PUBLICATIONS ARTICLES 1974 CHAKRAVARTI A: Certain considerations on the genetics of hand- clasping in human populations. In: Human Population Genetics in India Vol. I. Orient Longmans, New Delhi, pp. 277-288, 1974. 1976 Majumder PP, CHAKRAVARTI A: Variation in the ray and disk florets in four species of compositae. Fibonacci Quarterly 14:97-100, 1976. 1977 CHAKRAVARTI A: Genetic differentiation in the colonizing lizard Anolis grahami. Heredity 28:121-123, 1977. Nei M, CHAKRAVARTI A: Drift variance of FST and GST statistics obtained from a finite number of isolated populations. Theoretical Population Biology 11:307-325, 1977. Nei M, CHAKRAVARTI A, Tateno Y: Mean and variance of FST in a finite number of incompletely isolated populations. Theoretical Population Biology 11:291-306, 1977. Chakraborty R, CHAKRAVARTI A, Malhotra KC: Variation in allele frequencies among caste groups of the Dhangars of Maharashtra, India: An analysis with Wright's FST statistic. Annals of Human Biology 4:275-280, 1977. Malhotra KC, Chakraborty R, CHAKRAVARTI A: Gene differentiation among the Dhangar caste-cluster of Maharashtra, India. Human Heredity 28:26-36, 1977. Chakraborty R, CHAKRAVARTI A: On consanguineous marriages and the genetic load. Human Genetics 36:47-54, 1977. 1978 CHAKRAVARTI A, Chakraborty R: Elevated frequency of Tay-Sachs disease among Ashkenazi Jews unlikely by genetic drift alone. American Journal of Human Genetics 30:256-261, 1978. 1980 Ferrell RE, CHAKRAVARTI A, Hittner HM, Riccardi VM: Autosomal dominant Aniridia: Probable linkage to acid phosphatase 1 on chromosome 2. Proceedings of the National Academy of Science (USA) 77:1580-1582, 1980. 1981 Ferrell RE, Hittner HM, CHAKRAVARTI A: Autosomal dominant cone-rod dystrophy: A linkage study with 17 biochemical and serological markers. American Journal of Medical Genetics 8:363-369, 1981. 1982 CHAKRAVARTI A, Nei M: Utility and efficiency of linked marker genes for genetic counseling. II. Identification of linkage phase by offspring phenotypes. American Journal of Human Genetics 34:531-551, 1982. Antonarakis SE, Orkin SH, Kazazian HH, Sexton J, Boehm CD, Waber P, Goff SC, Ostrer H, Fairbanks BF, CHAKRAVARTI A: Evidence for multiple origins of the E globin gene in Southeast Asia. Proceedings of the National Academy of Science (USA) 79:6608-6611, 1982. 1983 Kazazian HH, CHAKRAVARTI A, Orkin SH: Matters arising: Sequencing strategy for thal genes. Nature 301:176- 177, 1983. Daiger SP, CHAKRAVARTI A: Deletion mapping of polymorphic loci by apparent parental exclusion. American Journal of Medical Genetics 14:43-48, 1983. CHAKRAVARTI A: Utility and efficiency of linked marker genes for genetic counseling. III. Proportion of informative families under linkage disequilibrium. American Journal of Human Genetics 35:592-610, 1983. Lebo RV, CHAKRAVARTI A, Buetow KH, Cheung MC, Cann H, Cordell B, Goodman H: Recombination within and between the human insulin and -globin gene loci. Proceedings of the National Academy of Science (USA) 80:4808-4812, 1983. CHAKRAVARTI A, Li CC: The probability of exclusion based on the HLA locus. American Journal of Human Genetics 35:1048- 1052, 1983. CHAKRAVARTI A, Li CC: Estimating the prior probability of paternity from the results of exclusion tests. Journal of Forensic Science 24:143-147, 1983. CHAKRAVARTI A, Bale SJ: Differences in the frequency of X-linked deleterious genes. American Journal of Human Genetics 35:1252-1257, 1983. CHAKRAVARTI A, Li CC: The effect of linkage on paternity calculations. Chapter 31 in Inclusion Probabilities in Paternity Testing. Ed: R.H. Walker, American Association of Blood Banks, Arlington, Virginia pp. 411-420, 1983. Li CC, CHAKRAVARTI A: On the exclusion and paternity probabilities. Chapter 47 in Inclusion Probabilities in Paternity Testing. Ed: R.H. Walker, American Association of Blood Banks, Arlington, Virginia, pp. 609-618, 1983. Kazazian HH, CHAKRAVARTI A, Orkin SH, Antonarakis SE: DNA polymorphisms in the human -globin gene cluster. Chapter 7 in Evolution of Genes and Proteins. Eds: M. Nei and Kohne, Sinaeur Publications, pp. 137-146, 1983. 1984 CHAKRAVARTI A, Li CC, Buetow KH: Estimation of marker gene frequency and linkage disequilibrium from conditional marker data. American Journal of Human Genetics 36:177-186, 1984. Bale SJ, CHAKRAVARTI A, Strong LC: Aggregation of colon cancer in family data. Genetic Epidemiology 1:53-61, 1984. Bale SJ, CHAKRAVARTI A, Ferrell RE, Spence MA: Possible heterogeneity in the PGPHPA linkage. American Journal of Human Genetics 36:808-814, 1984. CHAKRAVARTI A, Phillips JA, Mellits KH, Buetow KH, Seeburg PH: Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proceedings of the National Academy of Science (USA) 81:6085-6089, 1984. Badner JA, CHAKRAVARTI A, Wagener DK: A test of nonrandom segregation. Genetic Epidemiology 1:329-340, 1984. CHAKRAVARTI A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH: Non-uniform recombination within the human -globin gene cluster. American Journal of Human Genetics 36:1239-1258, 1984. CHAKRAVARTI A: Aspects of linkage analysis using RFLPs. In Genetic Epidemiology of Coronary Heart Disease: Past, Present and Future. Eds: D.C. Rao, R.C. Elston, L.H. Kuller, M. Feinleib, C. Carter, and R. Havlik, Alan R. Liss, New York, pp. 293295, 1984. 1985 Matheson KJ, Ostrer H, CHAKRAVARTI A, Buetow KH, O'Brien WE, Beaudet AL, Phillips JA: A study of restriction fragment length polymorphisms at the 1antitrypsin locus. Human Genetics 69:263-266, 1985. Li CC, CHAKRAVARTI A: Basic fallacies in the formulation of the paternity index. American Journal of Human Genetics 37:809- 818, 1985. CHAKRAVARTI A, Buetow KH: A strategy of using multiple linked markers for genetic counseling. American Journal of Human Genetics 37:984-997, 1985. Hafez M, CHAKRAVARTI A, El-Shennawy F, El-Morsi Z, El-Sallab SH, Al-Tonbary Y: HLA-Antigens and acute rheumatic fever. Genetic Epidemiology 2:273-282, 1985. Kittur SD, Antonarakis SE, Tanzi RE, Meyers DA, CHAKRAVARTI A, Groner Y, Phillips JA, Watkins PC, Gusella JF, Kazazian HH: A linkage map of 3 anonymous human DNA fragments and SOD-1 on chromosome 21. EMBO Journal 4:2257-2260, 1985. Antonarakis SE, Kittur SD, Metaxotou C, Bartsocas C, Kitsiou S, Watkins PC, Patel AS, Warren AC, Gusella JF, Groner Y, CHAKRAVARTI A, Meyers DA, Kazazian HH: Linkage map on chromosome 21q and the association of DNA haplotype with a propensity to nondisjunction and trisomy 21. In Molecular Structure of the Number 21 Chromosome and Down Syndrome. Ed: G.F. Smith. Annals New York Academy of Science 450:95-107, 1985. CHAKRAVARTI A, Strong LC, Bale SJ, Ferrell RE. Genetic epidemiology of adenocarcinoma of the colon. In Familial Cancer. Eds: H.J. Muller and W. Weber, Karger, Basel, pp. 81-84, 1985. Weber W, CHAKRAVARTI A: Discussion on Esophagus, Stomach, Colorectum, pancreas and lung cancers. In Familial Cancer. Eds: H.J. Muller and W. Weber, Karger, Basel, pp. 96-97, 1985. CHAKRAVARTI A: Issues in the genetic epidemiology of cancer. In Familial Cancer. Eds. H.J. Muller and W. Weber, Karger, Basel, pp. 197-198, 1985. 1986 Bale SJ, CHAKRAVARTI A, Greene MH: Cutaneous malignant melanoma and familial dysplastic nevi: Evidence for autosomal dominance and pleiotropy. American Journal of Human Genetics 38:188-196, 1986. CHAKRAVARTI A, Elbein SC, Permutt MA: Evidence for increased recombination near the human insulin gene: Implication for disease association studies. Proceedings of the National Academy of Science (USA) 83:1045-1049, 1986. Li CC, CHAKRAVARTI A: Some fallacious thinking about the paternity index: A reply to J. Valentin. American Journal of Human Genetics 38:586-589, 1986. CHAKRAVARTI A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH: Nonuniform recombination within the human beta- globin gene cluster: A reply to B.S. Weir and W.G. Hill. American Journal of Human Genetics 38:779-781, 1986. Badner JA, CHAKRAVARTI A, Buetow KH: Linkage analysis between Huntington disease and the G8 marker locus. Genetic Epidemiology Supl. 1:211-216, 1986. Buetow KH, CHAKRAVARTI A, Cole SA: A genetic map of human chromosome 11p. Genetic Epidemiology Supl. 1:135-140, 1986. Antonarakis SE, CHAKRAVARTI A, Warren AC, Slaugenhaupt SA, Wong C, Halloran SL, Metaxotou C: Reduced recombination rate on chromosomes 21 that have undergone nondisjunction. Cold Spring Harbor Symposium on Quantitative Biology LI:185-190, 1986. CHAKRAVARTI A, Halloran SL, Bale SJ, Tucker MA: Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance. Genetic Epidemiology 3:407-415, 1986. 1987 Bale SJ, CHAKRAVARTI A: Evidence for autosomal dominance and pleiotropy of the cutaneous malignant melanoma/dysplastic nevus gene. American Journal of Human Genetics 40:466-467, 1987. Buetow KH, CHAKRAVARTI A: Multipoint gene mapping using seriation. I. General methods. American Journal of Human Genetics 41:180-188, 1987. Buetow KH, CHAKRAVARTI A: Multipoint gene mapping using seriation. II. Analysis of simulated and empirical data. American Journal of Human Genetics 41:189201, 1987. CHAKRAVARTI A, Badner JA, Li CC: Tests of linkage and heterogeneity in mendelian diseases using identity-by-descent scores. Genetic Epidemiology 4:255-266, 1987. Li CC, CHAKRAVARTI A, Halloran SL: Estimation of segregation and ascertainment probabilities by discarding the single probands. Genetic Epidemiology 4:185-191, 1987. CHAKRAVARTI A, Slaugenhaupt SA: Methods for studying recombination on chromosomes that undergo nondisjunction. Genomics 1:35-42, 1987. Warren AC, CHAKRAVARTI A, Wong C, Slaugenhaupt SA, Halloran SL, Watkins PC, Metaxotou C, Antonarakis SE: Evidence for reduced recombination on nondisjoined chromosomes 21 in Down Syndrome. Science 237:652-654, 1987. Halloran SL, CHAKRAVARTI A: DSLINK: A computer program for gene-centromere linkage analysis in families with a trisomic offspring. American Journal of Human Genetics 41:350-355, 1987. Kittur S, Lubs ML, CHAKRAVARTI A, Kazazian HH: A linkage study of neurofibromatosis. Journal of Medical Genetics 24:526-527, 1987. Ott, J, Aston C, Baur M, Bishop T, CHAKRAVARTI A, Clayton J, Edwards JH, Elston RC, Keats B, Lathrop JM, Neugebauer M and L. Pascoe: Detection and Estimation of linkage, especially multipoint mapping. In Human Genetics, Proc. 7th Intl. Cong., Berlin 1986, Eds., F. Vogel & L.K., Sperling, Springer, Berlin & New York, pp. 188189, 1987. 1988 Murray JC, Buetow KH, Smith M, Carlock L, CHAKRAVARTI A, Ferrell RE, Gedamu L, Gilliam C, Shiang R, DeHaven CR: Pairwise linkage analysis of 11 loci on human chromosome 4. American Journal of Human Genetics 42:490-497, 1988. Cramer DV, CHAKRAVARTI A, Arenas O, Humprieres J, Mowery P: Genetic diversity within and between natural populations of Rattus norvegieus. Journal of Heredity 79:319-324,1988. Huff FJ, Auerbach J, CHAKRAVARTI A, Boller F: Risk of dementia in relatives of patients with Alzheimer's disease. Neurology 38:786-790, 1988. Chidambaram A, CHAKRAVARTI A, Ferrell RE, Iyengar S: Estimating the age-at-onset function using life table methods. Genetic Epidemiology 5:255-263, 1988. Li CC, CHAKRAVARTI A: An expository review of two methods of calculating the paternity probability. American Journal of Human Genetics 43:197-205, 1988. Antonarakis SE, Oettgen JP, CHAKRAVARTI A, Halloran SL, Hudson RR, Feisee L, Karathanasis SK: Organization and DNA polymorphisms analysis of the human apolipoprotein AI-CIII-AIV gene cluster. Human Genetics 80:265-273, 1988 1989 CHAKRAVARTI A, Slaugenhaupt SA, Zubenko GS: Inheritance pattern of platelet membrane fluidity in Alzheimer's disease. American Journal of Human Genetics 44:799-805, 1989. Kittur SD, Bagdon MM, Lubs ML, Phillips JA, Murray JC, Slaugenhaupt SA, CHAKRAVARTI A, Adler WH: Linkage analysis of neurofibromatosis type I using chromosome 17 DNA markers. American Journal of Human Genetics 44:48-50, 1989. Leitersdorf E, CHAKRAVARTI A, Hobbs HH: Polymorphic DNA haplotypes at the LDL receptor locus. American Journal of Human Genetics 44:409-421, 1989. CHAKRAVARTI A: The probability of detecting the origin of nondisjunction. American Journal of Human Genetics 44:639-645, 1989. Warren AC, Slaugenhaupt SA, Lewis J, CHAKRAVARTI A, Antonarakis SE: A genetic linkage map of 17 markers on human chromosome 21. Genomics 4:579-591, 1989. Kerem B-S, Rommens JM, Buchanan J, Markiewicz D, Cox TK, CHAKRAVARTI A, Buchwald M, Tsui L-C: Identification of the cystic fibrosis gene: Genetic analysis. Science 245:1073-1080, 1989. Antonarakis SE, Warren AC, McCormick MK, Lewis JG, Hieter PA, CHAKRAVARTI A: Molecular mapping of chromosome 21 and the region responsible for Down syndrome. In Molecular and Cytogenetic Studies of Non-disjunction. Eds. T.J. Hassold and C.J. Epstein, Alan Liss, New York, pp. 29-43, 1989. CHAKRAVARTI A, Majumder PP, Slaugenhaupt SA, Deka R, Warren AC, Surti U, Ferrell RE, Antonarakis SE: Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas. In Molecular and Cytogenetic Studies of Non-disjunction. Eds. T.J. Hassold and C.J. Epstein, Alan Liss, New York, pp. 45-79, 1989. 1990 Badner JA, CHAKRAVARTI A: Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene. American Journal of Medical Genetics 35:100-104, 1990. Long JC, CHAKRAVARTI A, Boehm CD, Antonarakis SE, Kazazian HH: A phylogeny of human -globin haplotypes and its implications for recent human evolution. American Journal of Physical Anthropology 81:113-130, 1990. Badner JA, Sieber W, Garver KL, CHAKRAVARTI A: A genetic study of Hirschsprung disease. American Journal of Human Genetics 46:568-580, 1990. Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, CHAKRAVARTI A, Lupski JR: Genetic mapping of autosomal dominant CharcotMarie-Tooth disease in a large French-Acadian kindred: Identification of new linked markers on chromosome 17. American Journal of Human Genetics 46:801809, 1990. Peterson MB, Economou EP, Slaugenhaupt SA, CHAKRAVARTI A, Antonarakis SE: Mapping of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as a polymorphic marker. Genomics 7:136-138, 1990. Neiswanger K, Slaugenhaupt SA, Hughes HB, Frank E, Frankel DR, McCarty MJ, CHAKRAVARTI A, Zubenko GS, Kupfer DJ, Kaplan BB: Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52. Biological Psychiatry 28:63-72, 1990. Beaudet AL and 20 others (includes A. CHAKRAVARTI): Statement from the NIH Workshop on Population Screening for the Cystic Fibrosis Gene. New England Journal of Medicine 323:70-71, 1990. Surti U, Hoffner L, CHAKRAVARTI A, Ferrell RE: Genetics and biology of human ovarian teratomas: I. Cytogenetic analysis and mechanism of origin. American Journal of Human Genetics 47:635-643, 1990. Deka R, CHAKRAVARTI A, Surti U, Hauselman E, Reefer JE, Majumder PP, Ferrell RE: Genetics and biology of human ovarian teratomas: II. Molecular analysis of origin of non-disjunction and gene-centromere mapping of chromosome 1p markers. American Journal of Human Genetics 47:644-655, 1990. Patel PI, Garcia C, Malamut R, Slaugenhaupt SA, CHAKRAVARTI A, Lupski JR: Isolation of a marker linked to Charcot-Marie-Tooth disease type 1A gene by differential Alu-PCR of human chromosome 17-retaining hybrids. American Journal of Human Genetics 47:926-934, 1990. Lewis JG, Weber JL, Peterson MB, Slaugenhaupt SA, Kwitek A, May PE, Warren AC, CHAKRAVARTI A, Antonarakis SE: Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics 8:400-402, 1990 1991 Morizot DC, Slaugenhaupt SA, Kallman KD, CHAKRAVARTI A: Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). Genetics 127:399-410, 1991. Peterson MB, Slaugenhaupt SA, Lewis JG, Warren AC, CHAKRAVARTI A, Antonarakis SE: A genetic linkage map of 27 markers on human chromosome 21. Genomics 9:407-419, 1991. Antonarakis SE and 19 others (includes A. CHAKRAVARTI): Parental origin of the extra chromosome in trisomy 21 revisited: DNA polymorphism analysis suggests maternal origin in 95% of cases. New England Journal of Medicine 324:872-876, 1991. Keats BJB, Sherman SL, Morton NE, Robson EB, Buetow KH, Cartwright PE, CHAKRAVARTI A, Francke U, Green P, Ott J: Guidelines for human linkage maps: An international system for human linkage maps (ISLM, 1990). Genomics 9:557-560, 1991 and Annals of Human Genetics 55:1-6, 1991. CHAKRAVARTI A, Lasher LK, Reefer JE: A maximum likelihood method for estimating genome length using genetic linkage data. Genetics 128:175-182, 1991. Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, CHAKRAVARTI A, Patel PI: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232, 1991. Peterson MB, Weber JL, Slaugenhaupt SA, Kwitek AE, McInnis MG, CHAKRAVARTI A, Antonarakis SE: Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat. Human Genetics 87:401-404, 1991. CHAKRAVARTI A: Information content of CEPH family structures for linkage studies. Human Genetics 87:721-724, 1991. CHAKRAVARTI A: A graphical representation of genetic and physical maps: The Marey Map. Genomics 11:219-222, 1991. McInnis MG, Lutfalla G, Slaugenhaupt SA, Petersen MB, Uze G, CHAKRAVARTI A, Antonarakis SE: Linkage mapping of highly informative DNA polymorphisms within the human Interferon- receptor gene on chromosome 21. Genomics 11:573-576, 1991. Mulvihill JJ, Harvey EB, Boice, JD, CHAKRAVARTI A, Miller RW: Normal findings 52 years after in utero radiation exposure. Lancet 338:1202-1203, 1991. CHAKRAVARTI A, Lander ES: Genetic approaches to the dissection of complex diseases. In Banbury Report 33: Genetics and Biology of Alcoholism. Eds: C.R. Cloninger & E. Begleiter, Cold Spring Harbor Press, New York, pp. 307-315, 1991. 1992 Aston CE, CHAKRAVARTI A: The gene order problem when using somatic cell hybrids. Cytogenetics and Cell Genetics 59:90-92, 1992. CHAKRAVARTI A, Reefer JE: A theory for radiation hybrid (Goss-Harris) mapping: Application to proximal 21q markers. Cytogenetics and Cell Genetics 59:99-101, 1992. Spielvogel H, Hennies H-C, Claussen U, Washington SS, CHAKRAVARTI A, Reis A: Band specific localization of the microsatellite at D13S71 by microdissection and enzymatic amplification. American Journal of Human Genetics 50:1031-1037, 1992. Antonarakis SE, 20 others, CHAKRAVARTI A: The meiotic stage of nondisjunction in trisomy 21: Determination by using DNA polymorphisms. American Journal of Human Genetics 50:544-550, 1992. Avramopoulos D, Cox TK, Forrest GL, CHAKRAVARTI A, Antonarakis, SE: Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. Genomics 13:447-448, 1992. Peterson MB, Frantzen M, Antonarakis SE, Warren AC, Van Broeckhoven C, CHAKRAVARTI A, Cox TK, Lund C, Olsen B, Poulson H, Sand A, Tommerup N, Mikkelsen M: Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down Syndrome. American Journal of Human Genetics 51:516-525, 1992. CHAKRAVARTI A: Fragile X founder effect? Nature Genetics 1:237-238, 1992. Hoffner L, Shen-Schwarz S, Deka R, CHAKRAVARTI A, Surti U: Genetics and biology of human ovarian teratomas. III. Cytogenetics and origins of malignant ovarian germ cell tumors. Cancer Genetics and Cytogenetics 62:58-65, 1992. NIH/CEPH Collaborative Mapping Group (includes A. CHAKRAVARTI): A comprehensive genetic linkage map of the human genome. Science 258:67-86, 1992. Avramopoulos D, Cox T, Blaschak JE, CHAKRAVARTI A, Antonarakis SE: Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. Genomics 14:506-507, 1992. Nimgaonkar VL, Ganguli R, Washington SS, CHAKRAVARTI A: Schizophrenia and porphobilinogen deaminase gene polymorphisms: An association study. Schizophrenia Research 8:51-58, 1992. CHAKRAVARTI A, Mulvihill, JJ: Editorial: Genetic Epidemiology and Genetic Epidemiology. Genetic Epidemiology 9:i-ii, 1992. Warren AC, McInnis MG, Blaschak J, Kaliatsidaki M, Petersen MB, CHAKRAVARTI A, Antonarakis SE: Dinucleotide Repeat (GT)n Markers on Chromosome 21. Genomics 14:818-819, 1992. Warren AC, Petersen MB, van Uhl W, McInnis MG, Van Broeckhoven C, Cox TK, CHAKRAVARTI A, Antonarakis SE: D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21. Genomics 13:13651367, 1992. Kalaitsidaki M, Cox TK, CHAKRAVARTI A, Antonarakis SE: Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21. Genomics 14:1071-1075, 1992. CHAKRAVARTI A: Impact of genetic, somatic and epigenetic variation on phenotype. In Genetic Variability in Human Diseases: Cells, individuals, families and populations. Eds. C.F. Sing & C.L. Hanis, Oxford University Press, New York, 1992. 1993 Li CC, Weeks DE, CHAKRAVARTI A: Similarity of DNA fingerprints due to chance and relatedness. Human Heredity 43:45-52, 1993. Warren AC, McInnis MG, Kalaitsidaki M, Cox TK, Blaschak J, CHAKRAVARTI A, Antonarakis SE: D21S210: A highly polymorphic (GT)n marker closely linked to the -amyloid protein precursor (APP) gene. Human Genetics 91:87-88, 1993. Avramopoulos D, CHAKRAVARTI A, Antonarakis SE: DNA polymorphisms in the 3' untranslated region of genes on human chromosome 21. Genomics 15:98-102, 1993. Bowcock A, Osborne-Lawrence S, Barnes R, CHAKRAVARTI A, Washington S, Dunn C: Microsatellite polymorphism linkage map of human chromosome 13q. Genomics 15:376-386, 1993. Hong HK, Giorda R, Yu LM, Trucco M, CHAKRAVARTI A: A microsatellite repeat polymorphism at the D13S197 locus. Human Molecular Genetics 2:337, 1993. Hong HK, Giorda R, Trucco M, CHAKRAVARTI A: Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci. Human Molecular Genetics 2:86, 1993. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, CHAKRAVARTI A, Ledbetter DH: Multiplex PCR of three dinucleotide repeats in the PraderWilli/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy. Human Molecular Genetics 2:143-151, 1993. McInnis MG, CHAKRAVARTI A, Blaschak J, Petersen MB, Sharma V, Avramoupoulos D, Blouin J-L, Konig U, Brahe C, Cox TK, Warren AC, Talbot CC, Van Broeckhoven C, Litt M, Antonarakis SE: A linkage map of human chromosome 21: 43 PCR markers at average intervals of 2.5 cM. Genomics 16:562-571, 1993. Angrist M, Kaufmann E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE, Sieber W, CHAKRAVARTI A: A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genetics 4:351-356, 1993. Avramopoulos D, Cox TK, Kraus T, CHAKRAVARTI A, Antonarakis SE: Linkage mapping of the cystathionine -synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. Human Genetics 90:566-568, 1993. Nimgaonkar VL, Scott JA, Brar JS, Ganguli R, CHAKRAVARTI A: Co-occurrence of schizophrenia and Treacher Collins syndrome. American Journal of Medical Genetics 48:156-158, 1993. Washington SS, Bowcock AM, Gerken S, Matsunami N, Lesh D, Osborne-Lawrence SL, Cowell J, Ledbetter DH, White RL, CHAKRAVARTI A: A somatic cell hybrid map of human chromosome 13. Genomics 18:486-495, 1993. Nimgaonkar VL, Zhang XR, Caldwell JG, Ganguli R, CHAKRAVARTI A: An association study of schizophrenia with dopamine D3 receptor gene polymorphisms: probable effects of family history of schizophrenia? American Journal of Medical Genetics 48:214-217, 1993. Perlin M, CHAKRAVARTI A: Efficient construction of high-resolution physical maps from yeast artificial chromosomes using radiation hybrids: Inner Product Mapping. Genomics 18:283-289, 1993. Winokur S, Schutte B, Weiffenbach B, Washington SS, McElligott D, CHAKRAVARTI A, Wasmuth JJ, Altherr MR: A radiation hybrid map of fifteen loci on the distal long arm of chromosome 4, the region containing the gene responsible for Facioscapulohumeral Muscular Dystrophy. American Journal of Human Genetics 53:874-880, 1993. Matise TC, Perlin M, CHAKRAVARTI A: MultiMap: An expert system for automated genetic linkage mapping. In Proc. 1st International Conference Intelligent System Molecular Biology, Washington DC,pp.260-265, 1993. 1994 Li CC, CHAKRAVARTI A: DNA profile similarity in a subdivided population. Human Heredity 44:100-109, 1994. CHAKRAVARTI A: Statistical analysis of radiation hybrid data, Section 3.4, In Current Protocols in Human Genetics, eds. N. Dracopoli, J. Haines, B. Korf, D. Muir, C. Morton, C. Seidman, J. Seidman & D. Smith. Current Protocols, New York, 1994. Zapata S, Petersen M, Konig U, Blaschak J, CHAKRAVARTI A, Tassone F, Serra A, Antonarakis SE, Brahe C: Highly polymorphic repeat marker within the amyloid precursor protein gene. Human Genetics 93:85-86, 1994. Matise TC, Perlin M, CHAKRAVARTI A: Automated construction of genetic linkage maps using an expert system (MultiMap): Application to 1,226 human microsatellite markers. Nature Genetics 6:384-390, 1994. Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, Slaugenhaupt SA, CHAKRAVARTI A: Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Human Molecular Genetics 3:1217-1225, 1994. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, CHAKRAVARTI A: A missense mutation of the Endothelin-B Receptor Gene in Multigenic Hirschsprung's Disease. Cell 79:1257-1266, 1994. Matise TC, CHAKRAVARTI A, Patel PI, Lupski JR, Nelis E, Timmerman V, Van Broeckhoven C, Weeks DE: Detection of tandem duplications and implications for linkage analysis. American Journal of Human Genetics 54:1110-1121, 1994. 1995 Washington SS, Warburton D, CHAKRAVARTI A: Report of the Second International Workshop on Human Chromosome 13 mapping 1994. Cytogenetics and Cell Genetics 70:1-22, 1995. Angrist A, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys HCM, CHAKRAVARTI A: Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Human Molecular Genetics 4:821-830, 1995. Lynn AH, Kwoh KC, Venglish CM, Aston CE, CHAKRAVARTI A: Genetic Epidemiology of Rheumatoid Arthritis. American Journal of Human Genetics 57:150-159, 1995. Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, CHAKRAVARTI A, Ledbetter DH: Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. American Journal of Human Genetics 57:40-48, 1995. Nimgaonkar VL, Yang ZW, Zhang XR, Brar JS, CHAKRAVARTI A, Ganguli R: Association study of schizophrenia and the IL-2 receptor ß chain gene. American Journal of Medical Genetics 60:448-451, 1995. Scott JA, Wenger SL, Steele MW, CHAKRAVARTI A: Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation. American Journal of Medical Genetics 56:67-71, 1995. Shaw S, Farr JEW, Thiel BA, Matise TC, Weissenbach J, CHAKRAVARTI A, Richard CW: A radiation hybrid map of 95 STSs spanning human chromosome 13q. Genomics 27:502-512, 1995. Blouin JL, Chrisie DH, Gos A, Lynn A, Morris MA, Ledbetter DH, CHAKRAVARTI A,Antonarakis SE: A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination. American Journal of Human Genetics 57:388-394, 1995. Talbot CC, Avramopoulos D, Gerken S, CHAKRAVARTI A, Matsunami N, White R, Antonarakis SE: The tetranucleotide repeat polymorphism D21S1245 on human chromosome 21 demonstrates extraordinary hypermutability, particularly in vitro. Human Molecular Genetics 4:1193-1199, 1995. CHAKRAVARTI A: The CD4/CD8 ratio: Message in a bottle? Nature Medicine 12:1240-1241, 1995. Angrist M, Wells DE, CHAKRAVARTI A, Pandey A: Chromosomal localization of mouse and putative human SCR-like adapter protein (SLAP) genes. Genomics 30:623-625, 1995. Schork NJ, CHAKRAVARTI A: A non-mathematical overview of modern gene mapping techniques applied to human diseases, Chapter 2 in Molecular Genetics and Gene Therapy of Cardiovascular Diseases, Ed. S. Mockrin, Marcel Dekker, Inc., New York 1995. 1996 Bolk S, Angrist M, Schwartz S, Silvestri JM, Weese-Mayer DE, CHAKRAVARTI A: Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. American Journal of Medical Genetics 63:603-609, 1996. Chen H, Rossier C, Lalioti MD, Lynn A, CHAKRAVARTI A, Perrin G, Antonarkis SE: Cloning of the cDNA for a human homolog of the Drosophila white gene and mapping to chromosome 21q22.3. American Journal of Human Genetics 59:66-75 1996. Eichler EE, MacPherson JN, Murray A, Jacobs P, CHAKRAVARTI A, Nelson DL: Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Human Molecular Genetics 5:3 319-330, 1996. CHAKRAVARTI A: Endothelin receptor-mediated signaling in Hirschsprung disease. Human Molecular Genetics 5:303-307, 1996. Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu y, Kamsteeg EJ, Stulp RP, van Ravenswaaji-Arts C, Majoor-Krakauer D, Angrist M, CHAKRAVARTI A, Meijers C, Buys CHM: A homozygous mutation in the human endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype. Nature Genetics 12:445-447, 1996. Bolk S, Xie J, Angrist M, Silvestri JM, Weese-Mayer DE, Yanagisawa M, CHAKRAVARTI A: Endothelin-3 (EDN3) mutation in a patient with Congenital Central Hypoventilation Syndrome. Nature Genetics 13:395-396, 1996. Cohen T, Zeitune M, McGillivray BC, Hall JG, Lynn AH, Aston CE, CHAKRAVARTI A: Segregation analysis of microcephaly. American Journal of Medical Genetics 65:226-234, 1996. Kwoh CK, Venglish C, Lynn AH, Whitley DM, Young E, CHAKRAVARTI A: Age, Sex and the Familial Risk of Rheumatoid Arthritis. American Journal of Epidemiology 144: 15-24, 1996. Nimgaonkar VL, Sanders AR, Ganguli R, Zhang XR, Brar J, Hogge W, Fann WE, Patel PI, CHAKRAVARTI A: Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples. American Journal of Medical Genetics 67:505-514, 1996. Angrist M, Bolk S, Halushka M, Lapchak P, and CHAKRAVARTI A: Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nature Genetics 14: 341-344, 1996. 1997 Chen H, Rossier C, Nakamura Y, Lynn A, CHAKRAVARTI A, Antonarakis S: Cloning of a Novel Homeobox-Containing Gene, PKNOX1, and Mapping to Human Chromosome 21q22.3. Genomics 41: 193-200, 1997. Peterson M, Tomasetto C, Lynn A, CHAKRAVARTI A: DNA Marker at a Candidate Locus. Clinical Genetics 52: 247-248, 1997. Carrasquillo M, Zlotogora J, Barges S, CHAKRAVARTI A: Two different connexin 26 mutations in an inbred kindred segregation non-syndromic recessive deafness: implications for genetic studies in isolated populations. Human Molecular Genetics 12: 2163-2173, 1997. Collins F, Guyer M, CHAKRAVARTI A: Variations on a theme: cataloging human DNA sequence variation. Science 278:1580-1581, 1997. 1998 Brown D, Matise T, Koike G, Simon J, Zangen S, McLaughlin M, Shiozawa M, Atkinson S, Winer E, Hudson J, CHAKRAVARTI A, Lander E, Jacob H: An integrated genetic linkage map of the laboratory rat. Mammalian Genome 9: 521-530, 1998. Angrist M, Jing S, Bolk St, Bentley K, Nallasamy S, Halushka M, Fox G, CHAKRAVARTI A: Human GFRA1: Cloning, mapping, genomic structure and evaluation as a candidate gene for Hirschsprung disease susceptibility. Genomics 48: 354-362, 1998. Shaw S, Carrasquillo M, Kashuk C, Puffenberger E, CHAKRAVARTI A: Allele frequency distributions in pooled DNA samples: Applications to mapping complex disease genes. Genome Research 8:111-123, 1998. CHAKRAVARTI, A: It’s raining SNPs, hallelujah? Nature Genetics 18: 216-218, 1998. CHAKRAVARTI, A: What issues in genetics research most concern 13 experts right now. Chronicle of Higher Education, XLIV # 43:B7,1998. Blouin J, Dombroski B, Nath S, Lasseter V, Wolyniec P, Nestadt G, Thornquist M, Ullrich G, McGrath J, Kasch L, Lamacz M, Thomas M, Gehrig C, Radhakrishna U, Snyder S, Balk K, Neufeld K, Swartz K, DeMarchi N, Papadimitriou G, Dikeos D, Stefanis C, CHAKRAVARTI A, Childs B, Housman D, Kazazian H, Antonarakis S, Pulver A: Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nature Genetics 20: 70-73, 1998. Potier M, Dutriaux A, Orti R, Groet J, Gibelin N, Karadima G, Lutfalla G, Lynn A, Van Broeckhoven C, CHAKRAVARTI A, Petersen M, Nizetic, D, Delabar J, Rossier J: Two sequence-ready contigs spanning the two copies of a 200-kb duplication of human 21q: partial sequence and polymorphisms. Genomics 51:417-426, 1998. Angrist M, Bolk S, Bentley K, Nallasamy S, Halushka M, CHAKRAVARTI A: Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease. Oncogene 17:3065-3070, 1998. Collins FS, Patrinos A, Jordan E, CHAKRAVARTI A, Gesteland R, Walters L, and the members of the DOE and NIH planning groups. New goals for the U.S. Human Genome Project: 1998-2003. Science 282:682-689,1998. Collins FS, Brooks LD, CHAKRAVARTI A: A DNA polymorphism discovery resource for research on human genetic variation. Genome Research 8: 1229-1231, 1998. Matise TC, CHAKRAVARTI A: Automated map construction - MultiMap. Chapter 4 In ICRF Handbook for Genome Analysis. Ed. N. Spurr, BD Young & SP Bryant, Blackwell Science, London, pp. 89-96, 1998. 1999 CHAKRAVARTI A, Lynn A: Meiotic mapping in humans. Chapter 1 In Genome Analysis: A Laboratory Manual. Eds. Birren B, Green ED, Hieter P, Klapholz S, Myers RM, Riethman H & Roskams J, Cold Spring Harbor Press, Volume 4: Mapping Genomes, pp. 1-69, 1999. CHAKRAVARTI A: C. C. Li: Courageous scholar and educator. American Journal of Human Genetics 64:14-15, 1999. CHAKRAVARTI A: Population genetics - making sense out of sequence. Nature Genetics (Supplement) 21:56-60, 1999. Chadwick BP, Helbling LA, Angrist M, CHAKRAVARTI A, Gusella JF, Slaugenhaupt SA: Assignment of Persephin, a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR. Cytogenetics and Cell Genetics 83:236-237, 1999. Hong H-K, Lass JH, CHAKRAVARTI, A: The Mouse Mutation congenital hydrocephalus (Mf1) and the gene Hfh1 are members of the Hepatocyte Nuclear Factor 3/ Fork Head Winged Helix Family of Transcription Factors. Human Molecular Genetics 8:625-637, 1999. Southard-Smith E, Angrist M, Ellison J, Agarwala R, Baxevanis A, CHAKRAVARTI A, Pavan W: Mouse-human comparative analyses of SOX10. Genome Research 9:215225, 1999. Kibar Z, Lafreniere R, CHAKRAVARTI A, Wang J-C, Chevrette M, Der Kaloustian V, Rouleau G: A radiation hybrid map of 48 loci including the Clouston Hidrotic Ectodermal Dysplasia (HED) locus in the pericentromeric region of chromosome 13q. Genomics 56:127-130, 1999. Halushka MK, Fan J-B, Bentley K, Hsie L, Weder A, Cooper R, Lipshutz R, CHAKRAVARTI A: Patterns of single nucleotide polymorphisms in candidate genes regulating blood pressure homeostasis. Nature Genetics 22:239-247, 1999. Jonsson E, Nimgaonkar V, Zhang X, Shaw S, Berget E, Crocq M-A, CHAKRAVARTI A, Sedvall G: A trend for an association between schizophrenia and D3S1310, a marker in proximity to the dopamine D3 receptor gene. Neuropsychiatric Genetics 88:352-357, 1999. CHAKRAVARTI, A: The nature and distribution of human genetic disease. In Evolution, Science and Society. Evolutionary Biology and the National Research Agenda. A. P. Sloan Foundation and the National Science Foundation. (http://www.rci.rutgers.edu/~ecolevol/evolution.html), 1999. Halushka MK, Mathews DJ, Bailey JA, CHAKRAVARTI A: GIST: A web tool for collecting gene information. Physiological Genomics 1:75-81, 1999. Bolk S, Puffenberger EG, Hudson J, Morton DH,CHAKRAVARTI, A: Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish type (NPHS1), in the Old Order Mennonites. American Journal of Human Genetics 65:1785-1790, 1999. 2000 Bolk S, Pelet A, Hofstra R, Angrist M, Salomon R, Croaker D, Buys C, Lyonnet S, CHAKRAVARTI A: Multigenic inheritance of Hirschsprung disease: requirements of a new 9q31 locus and RET for phenotypic expression. Proceedings of the National Academy of Science (USA) 97:268-273, 2000. Bailey JA, Carrel L, CHAKRAVARTI A, Eichler EE: Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis. Proceedings of the National Academy of Science (USA) 97:66346639, 2000. Zaragoza MV, Surti U, Redline RW, Millie E, CHAKRAVARTI A, Hassold TJ: Parental Origin and Phenotype of Triploidy in Spontaneous Abortions: Predominance of Diandry and Association with the Partial Hydatidiform Mole. American Journal of Human Genetics 66:1807-1820, 2000. Fan J-B, Chen X, Halushka MK, Berno A, Huang X, Ryder T, Lipshutz R, Lockhart DJ, CHAKRAVARTI A: Parallel genotyping of human SNPs using generic highdensity oligonucleotide tag arrays. Genome Research 10:853-860, 2000. Lynn A, Peterson MB, Kashuk C, Cox DR, Antonarakis SE, CHAKRAVARTI A: Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21. Genome Research 10:1319-1332, 2000. Zwick ME, Cutler DJ, CHAKRAVARTI A: Patterns of Genetic Variation in Mendelian and Complex Traits. Annual Review of Genomics and Human Genetics 1:387-407, 2000. Schork NJ, Nath SK, Fallin D, CHAKRAVARTI A: Linkage disequilibrium analysis of biallelic markers, human quantitative trait loci, and threshold-defined cases and controls. American Journal of Human Genetics 67:1208-1218, 2000. Province MA, Boerwinkle E, CHAKRAVARTI A, Cooper R, Fornage M, Leppert M, Risch N, Ranade K: Lack of association of the angiotensinogen-6 polymorphism with blood pressure levels in the comprehensive NHLBI Family Blood Pressure Program. Journal of Hypertension 18:867-76, 2000. Schork NJ, CHAKRAVARTI A, Thiel B, Fornage M, Jacob HJ, Cai R, Rotimi CN, Cooper RS, Weder AB: Lack of association between a biallelic polymorphism in the Adducin gene and blood pressure in Whites and African Americans. American Journal of Hypertension 13:693-698, 2000. 2001 CHAKRAVARTI A, Lyonnet S: Hirschsprung Disease. Chapter 251 in The Metabolic and Molecular Bases of Inherited Disease (8th edn.) Eds. Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler K, Vogelstein B. McGraw-Hill, New York, NY, pp. 6231 – 6255, 2001. Hong H-K, Noveroske JK, Headon DJ, Liu T, Sy M-S, Justice MJ, CHAKRAVARTI A: The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice. Genesis 29:163-171 , 2001. CHAKRAVARTI A: To a future of genetic medicine. Nature 409:822-823,2001. Green ED, CHAKRAVARTI A: The Human Genome Sequence Expedition: Views from the “Base Camp”. Genome Research 11:645-651, 2001. Mathews DJ, Kashuk C, Brightwell G, Eichler EE, CHAKRAVARTI A: Sequence variation within the fragile X locus. Genome Research 11:1382-1391, 2001. Wiesner GL, Platzer P, Buxbaum S, Lewis S, MacMillen M, Olechnowicz J, Willis J, CHAKRAVARTI A, Elston RC, Markowitz SD: Absence of colon neoplasia susceptibility variants at the human COX2 locus. Journal of the National Cancer Institute 18:635-639, 2001. McCallion AS, CHAKRAVARTI A: EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Research 14:161-169, 2001. Cutler DJ, Zwick ME, Carrasquillo MM, Yohn CT, Tobin KP, Kashuk C, Mathews DJ, Shah NA, Eichler EE, Warrington JA, CHAKRAVARTI A: High-throughput variation detection and genotyping using microarrays. Genome Research 11:1913-1925, 2001. Zwick ME, Cutler DJ, CHAKRAVARTI A: Genetic Variation Analysis of Neuropsychiatric Traits. In, Methods in Neuroscience 1:289-302, Eds. S Moldin, H Chen. CRC Press, New York, NY, 2001. 2002 CHAKRAVARTI A: Polymorphism. Wiley Encyclopedia of Molecular Medicine. Ed. Creighton, TE, John Wiley and Sons, Inc., New York 5:2545-2548, 2002. Kashuk C, SenGupta S, Eichler E, CHAKRAVARTI A: viewGene: A graphical tool for polymorphism visualization and characterization. Genome Research 12:333-338, 2002. Zhu X, Cooper RS, Luke A, Chen G, Wu X, CHAKRAVARTI A, Weder AB: A genomewide scan for obesity in African Americans. Diabetes 51:541-544, 2002. Weese-Mayer DE, Bolk S, Silvestri JM, CHAKRAVARTI A: Idiopathic Congenital Central Hypoventilation Syndrome: Evaluation of Brain-Derived Neurotrophic Factor Genomic DNA Sequence Variation. American Journal of Medical Genetics 107:306-310, 2002. Blagoev B, Nielsen MM, Angrist M, CHAKRAVARTI A, Pandey A: Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene. Gene 284:161-168, 2002. Bolk Gabriel S, Salomon R, Pelet A, Angrist M, Amiel J, Attie-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, CHAKRAVARTI A: Splitting a multigenic disease: segregation at three loci explains sibling recurrence risk in Hirschsprung disease. Nature Genetics 31:89-93, 2002. CHAKRAVARTI A: Commentary -- A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility. Proceedings of the National Academy of Science (USA) 99:4755-4756, 2002. Nath SK, CHAKRAVARTI A, Chen C-H, Cooper R, Weder A, Schork NJ: Segregation analysis of blood pressure and body mass index in a rural U.S. community. Human Biology 74:11-23, 2002. Christian SL, McDonough J, Liu C-Y, Shaikh S, Vlamakis V, Badner JA, CHAKRAVARTIA, Gershon ES: An evaluation of the assembly of a ~15 Mb region on Human Chromosome 13q32-q33 linked to Bipolar Disorder and Schizophrenia. Genomics 79:635-656, 2002. Marshall DG, Meier-Ruge WA, CHAKRAVARTI A, Langer JC: Chronic constipation due to Hirschsprung’s disease and desmosis coli in a single family. Pediatric Surgical International 18:110-114, 2002. Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, CHAKRAVARTI A: Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nature Genetics 32:237-244, 2002. Lin S, Cutler DJ, Zwick ME, CHAKRAVARTI A: Haplotype inference in random population samples. American Journal of Human Genetics 71:1129-1137, 2002. Merikangas K, CHAKRAVARTI A , Moldin S, Araj H, Blangero J, Burmeister M, Crabbe J, Depaulo J, Foulks E, Freimer N, Koretz D, Lichtenstein W, Mignot E, Reiss A, Risch N, S Takahashi J: Future of genetics of mood disorders research. Biological Psychiatry 52:457-477, 2002. 2003 Marth G, Schuler G, Yeh R, Davenport R, Agarwala R, Church D, Wheelan S, Baker J, Ward M, Kholodov M, Phan L, Czabarka, Murval J, Cutler D, Wooding S, Rogers A, CHAKRAVARTI A, Harpending H, Kwok P-Y, Sherry S: Sequence variations in the public human genome data reflect a bottlenecked population history. . Proceedings of the National Academy of Science (USA) 100:376-381, 2003. CHAKRAVARTI A, Little PFR: Nature, nurture and human disease. Nature 421:412-414, 2003. Sen S, Nesse RM, Stoltenberg SF, Li S, Gleiberman L, CHAKRAVARTI A, Weder AB, Burmeister M: A BDNF Coding Variant is Associated with the NEO Personality Inventory Domain Neuroticism, a Risk Factor for Depression. Neuropsychopharmacology 28:397-401, 2003. Zhu X, Yan D, Cooper R, Luke A, Weder A, CHAKRAVARTI A: Linkage disequilibrium and haplotype diversity in the genes of the Renin-Angiotensin system: Findings from the Family Blood Pressure Program. Genome Research 13:173-181, 2003. Thiel BA, CHAKRAVARTI A, Cooper RS, Luke A, Lewis SM, Lynn A, Tiwari H, Schork NJ, Weder AB: A genome wide linkage analysis investigating the determinants of blood pressure in Whites and African Americans. American Journal of Hypertension 16:151-153, 2003. Mitchell AA, Cutler DJ, CHAKRAVARTI A: Undetected Genotyping Errors Cause Apparent Over-Transmission of Common Alleles in the Transmission Disequilibrium Test. American Journal of Human Genetics 72:598–610, 2003. Uhlmann WR, Bennett R, Botkin JR, Botstein D, Boughman JA, CHAKRAVARTI A, Clayton EW, Kahn J, Koenig B, Murray TH,Olson MV, Rowley J, Terry S, Valle D: Letter to the Editor: Planning the Genome Institute's Future. Science 299:1515 , 2003. McCallion AS, Stames E, Conlon RA, CHAKRAVARTI A: Phenotype variation in twolocus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednr. Proceedings of the National Academy of Science (USA) 100:18261831, 2003. Weder AB, Delgado MC, Zhu X, Gleiberman L, Kan D, CHAKRAVARTI A: Erythrocyte Sodium-Lithium Countertransport and Blood Pressure: A Genome-Wide Linkage Study. Hypertension 41:842-846,2003. Zhu X, Chang Y-P C, Yan D, Weder A, Cooper R, Luke A, Donghui K, CHAKRAVARTI, A: Associations between Hypertension and Genes in the Renin-Angiotensin System. Hypertension 41:1027-1034,2003. Thomas JW, Touchman JW,…, CHAKRAVARTI A, Haussler D, Green P, Miller W, Green ED: Comparative analyses of multi-species sequences from targeted genomic regions. Nature 424:788-793, 2003. Peri S, Navarro JD,…46 authors, CHAKRAVARTI A, Pandey A: Development of a Human Protein Reference Database as an initial platform for approaching systems biology in humans. Genome Research 13:2363-2371, 2003. McCallion AS, CHAKRAVARTI A :RET, Hirschsprung disease and multiple endocrine neoplasia type 2. In, Inborn Errors of Development, Eds. Epstein C, Erickson R, and Wynshaw-Boris A, Oxford University Press, San Francisco, (in press),2003. Xu Z, Kerstann KF, Sherman SL, CHAKRAVARTI A, Feingold E: A Trisomic Transmission Disequilibrium Test. Genetic Epidemiology (in press), 2003. The Working Group on Cell-Based Therapies (includes A. CHAKRAVARTI): Public Stem Cell Banks: Considerations of Justice in Stem Cell Research and Therapy. Fertility and Sterility (in press),2003. Mitchell AA, Zwick ME, CHAKRAVARTI A, Cutler DJ: Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns. Bioinformatics (in press), 2003. Stankiewicz P, Chen PE, Kashuk C , Withers M, CHAKRAVARTI A, Lupski JR, Katsanis N: Evaluation of the evolution, distribution, positional characteristics and transcriptional potential of the mitochondrial component of the human nuclear genome. Human Molecular Genetics (in review), 2003. Maitra A, Cohen Y, Gillespie SED, Shah N, Sidransky, CHAKRAVARTI A: The Human MitoChip: A high-throughput sequencing microarray for mitochondrial mutation detection. Proceedings of the National Academy of Science (USA) (submitted), 2003. EDITED VOLUMES Human Population Genetics: The Pittsburgh Symposium. A. CHAKRAVARTI, ed., Van Nostrand Reinhold Company, New York, NY, 1984. Genetic Analysis Workshop 7: Issues in Gene Mapping and Detection of Major Genes. MacCluer JW, CHAKRAVARTI A, Cox D, Bishop DT, Bale SJ, Skolnick MH, eds., Cytogenetics and Cell Genetics. Basel: S Karger, 1991. BOOK REVIEWS Statistical Analysis of DNA Sequence Data by B.S. Weir. In Molecular Biology and Evolution 1:286-287, 1984. Methodology in Medical Genetics: An Introduction to Statistical Methods by A.E.H. Emery. In American Journal of Human Genetics 42:522, 1988. Molecular Probes: Technology and Medical Applications. Eds A. Albertini, R. Paoletti, R. Reisfeld. In Genetic Epidemiology 7:101-102, 1990. ABSTRACTS (listed until 1999) CHAKRAVARTI A, Chakraborty R: Drift variance of race admixture. Excerpta Medica International Congress Series #397. Eds: S. Armendares and R. Lisker. Elsevier/North Holland, pp. 117, 1976. Morizot DC, CHAKRAVARTI A: Linkage relationships of protein-coding loci in fishes of the genus Xiphophorus. Genetics 86:s46, 1977. Chakraborty R, CHAKRAVARTI A: Genetic diseases and polymorphisms among Jews. Proceedings of the Vth International Conference of Birth Defects. Ed: J.W. Littlefield. Excerpta Medica, Amsterdam, p. 83, 1977. CHAKRAVARTI A, Nei M: Utility of linked marker genes in genetic counseling with a Bayesian approach. American Journal of Human Genetics 30:122A, 1978. CHAKRAVARTI A, Nei M: The utility of linked marker genes for genetic counseling when linkage disequilibrium is present. American Journal of Human Genetics 31:122A, 1979. CHAKRAVARTI A, Buetow KH, Antonarakis S, Boehm CD, Kazazian HH: Non-random association and evolution in the -globin gene cluster. American Journal of Human Genetics 33:134A,1981. CHAKRAVARTI A, Buetow KH: Estimation of the rate of nucleotide substitution under concerted evolution. Genetics 100:s11, 1982. Buetow KH, CHAKRAVARTI A, Mellits K, Phillips JA: DNA polymorphisms in the human growth hormone complex detected using restriction endonucleases. Genetics 104:s10, 1983. CHAKRAVARTI A, Wahl N: Molecular evolution of DNA sequences when transitions and transversions occur at different rates. Genetics 104:s13, 1983. Bale SJ, CHAKRAVARTI A, Strong LC: Familial aggregation and age at onset in nine colon cancer pedigrees. American Journal of Human Genetics 35:59A, 1983. Buetow KH, CHAKRAVARTI A, Antonarakis SE, Waber PA, Boehm CD, Kazazian HH: Non-uniform recombination within the -globin gene cluster. Genetics 107:s15, 1984. Bale SJ, CHAKRAVARTI A, Strong LC: Segregation analysis in colon cancer families: Definition of the 'cancer family syndrome'. American Journal of Human Genetics 36:25S, 1984. Buetow KH, CHAKRAVARTI A: A strategy for using multiple linked markers for prenatal diagnosis. American Journal of Human Genetics 36:122S, 1984. Ostrer H, Matteson KJ, CHAKRAVARTI A, Buetow KH, O'Brien WE, Beaudet AL, Phillips JA: A study of restriction site polymorphisms (RSPs) at the human 1antitrypsin locus. American Journal of Human Genetics 36:150S, 1984. Greene MH, Bale SJ, CHAKRAVARTI A, Mann DL, Murray C, Johnson AH, Gerhard D, Housman DE: Genetic studies of hereditary melanoma (HM) and its precursor, the dysplastic nevus syndrome (DNS). American Association of Cancer Research Annual Meeting, 1985. CHAKRAVARTI A, Bale SJ, Ferrell RE, Strong LC: Adenocarcinoma of the colon: Genetic linkage studies. Cytogenetics Cell Genetics 40:603, 1985. CHAKRAVARTI A, Buetow KH: Fine-structure gene mapping using linkage disequilibrium: HLA. Cytogenetics Cell Genetics 40:603-604, 1985. Elbein SC, CHAKRAVARTI A, Buetow KH, Permutt MA: Increased recombination around the insulin gene detected using new RFLPs. Cytogenetics Cell Genetics 40:623-624, 1985. Buetow KH, CHAKRAVARTI A, Nussbaum RL, Ferrell RE: Sampling variance and confidence limits on the recombination value: XRP and DXS7. Cytogenetics Cell Genetics 40:595, 1985. Bale SJ, CHAKRAVARTI A, Greene MH: Dysplastic nevi (DN) and cutaneous malignant melanoma (CMM) represent pleiotropic effects of a single gene. Cytogenetics Cell Genetics 40: 575, 1985. Kittur SD, Antonarakis SE, Tanzi RE, Meyers DA, CHAKRAVARTI A, Groner Y, Phillips JA, Watkins PC, Gusella JF, Kazazian HH: Initial construction of a linkage map of chromosome 21. Cytogenetics Cell Genetics 40:668, 1985. CHAKRAVARTI A, Buetow KH: Human evolution at the molecular level: -globin gene cluster. American Journal of Physical Anthropology 66:154, 1985. Bale SJ, Greene MH, CHAKRAVARTI A, Mann DL, Murray C, Johnson AH, Gerhard D, Housman DE, Payne C, Lovrien E: Segregation and linkage studies in the familial malignant melanoma (FMM)- dysplastic nevus (DN) syndrome. American Journal of Human Genetics 37:A23, 1985. CHAKRAVARTI A, Elbein SC, Permutt MA: Recombinational hotspot near the human insulin gene. American Journal of Human Genetics 37:A147, 1985. Buetow KH, CHAKRAVARTI A, Murray J, Ferrell RE: Multipoint mapping using seriation. American Journal of Human Genetics 37:A190, 1985. Cole SJ, Hafez M, Francis K, CHAKRAVARTI A, Buetow KH, El-Morsi Z, El-Sallab SH, Al-Tonbary Y, El-Shennawy F: HLA-antigens and acute rheumatic fever: Evidence for a recessive susceptibility gene linked to HLA. American Journal of Human Genetics 37:A192, 1985. CHAKRAVARTI A, Slaugenhaupt SA, Surti U, Alcorn L, Ferrell RE: Gene-centromere mapping using human ovarian teratomas. American Journal of Human Genetics 39:A150, 1986. Halloran SL, CHAKRAVARTI A, Slaugenhaupt SA: Mapping functions for ovarian teratomas. American Journal of Human Genetics 39:A156, 1986. Murray JC, Buetow KH, Shiang R, CHAKRAVARTI A, Ferrell RE, Carlock L, Smith M, Gilliam C, Leppert M: Multipoint linkage map of chromosome 4 with ten markers. American Journal of Human Genetics 39:A163, 1986. Slaugenhaupt SA, CHAKRAVARTI A: Methods for studying recombination on chromosomes that have undergone nondisjunction. American Journal of Human Genetics 39:A168, 1986. Antonarakis SE, Oettgen JP, CHAKRAVARTI A, Feisee L, Karathanasis SK: DNA polymorphism analysis of the human apolipoprotein AI-CIII-AIV gene cluster. American Journal of Human Genetics 39:A185, 1986. Long JC, CHAKRAVARTI A: A phylogeny of -globin haplotypes and its implications for human evolution. American Journal of Human Genetics 39:A240, 1986. Antonarakis SE, Warren AC Wong C, Metaxotou C, CHAKRAVARTI A: Reduced recombination rate in chromosomes 21 which undergo nondisjunction in trisomy 21. Molecular Biology of Homo Sapiens Meeting, Cold Spring Harbor Laboratory, p. 11 May 18-June 4, 1986. Long JC, CHAKRAVARTI A: Phylogenetic interpretation of the distribution of human globin haplotypes. American Journal of Physical Anthropology 72:227, 1987. Ladias JA, Guethlin L, Lusis AJ, CHAKRAVARTI A, Antonarakis SE: DNA polymorphism analysis in the apoB gene. American Journal of Human Genetics. 41:A223, 1987. Cox TK, CHAKRAVARTI A, Murray JC: Phylogenetic relationships between human and other primates based on albumin/-fetoprotein DNA fragments. American Journal of Human Genetics. 41:A253, 1987. Slaugenhaupt SA, CHAKRAVARTI A: Estimating the recombination rate from observed haplotype data. American Journal of Human Genetics 41:A262, 1987. Blanton SH, CHAKRAVARTI A: A global test of linkage disequilibrium. American Journal of Human Genetics. 41:A250, 1987. Badner JA, CHAKRAVARTI A, Sieber W, Garver KL: Evidence for dominant gene(s) in Hirschsprung disease. American Journal of Human Genetics. 41:A144, 1987. Huff FJ, Auerbach J, CHAKRAVARTI A, Boller F: Familial risk of Alzheimer's disease: Possible genetic determination of susceptibility and age at disease onset. Annual Meeting American Association of Neurology, 1987. CHAKRAVARTI A, Cox TK: Statistical methods for multipoint gene mapping using recombinant inbred (RI) mouse strains. Mouse Newsletter, 79:63, 1987. Cox TK, CHAKRAVARTI A: Complex segregation analysis of van der Woude Syndrome. American Journal of Human Genetics 43:A44, 1988. Slaugenhaupt SA, CHAKRAVARTI A, Zubenko GS: Genetic studies of platelet membrane fluidity associated with Alzheimer's disease. 43:A70, 1988. Bagdon MM, Adler WH, Lubs ML, CHAKRAVARTI A, Kittur SK: Linkage analysis of neurofibromatosis with chromosome 17 markers. American Journal of Human Genetics 43:A135, 1988. CHAKRAVARTI A, Kwoh CK, Garty MK, Badner JA, Agarwal AK: Genetic analysis of rheumatoid arthritis. American Journal of Human Genetics 43:A212, 1988. Surti U, Deka R, Hoffner L, Majumder P, CHAKRAVARTI A, Ferrell RE: Human ovarian teratomas: Origin and gene mapping using cytogenetic and DNA markers. American Journal of Human Genetics 43:A34, 1988. Deka R, Majumder PP, Warren AC, Surti U, Hoffner L, Hauselman E, Antonarakis SE, Ferrell RE, CHAKRAVARTI A: Gene-Centromere mapping using ovarian teratomas: Results from chromosomes 1p, 13q and 21q. American Journal of Human Genetics 45:A137, 1989. Franco B, Lupski JR, Frances S, Davis S, Slaugenhaupt SA, CHAKRAVARTI A, Garcia C, Nakamura Y, O'Connell P, Ledbetter DH, Patel P: Linkage analysis of CharcotMarie-Tooth disease and markers from the pericentromeric region of chromosome 17. American Journal of Human Genetics 45:A140, 1989. Peterson MB, Slaugenhaupt SA, Lewis JG, Warren AC, CHAKRAVARTI A, Antonarakis SE: A genetic linkage map of 24 loci on human chromosome 21. American Journal of Human Genetics 45:A157, 1989. Slaugenhaupt SA, Peterson MB, Warren AC, Antonarakis SE, CHAKRAVARTI A: The pattern of recombination on human chromosome 21: Inter-familial variation and age effects. American Journal of Human Genetics 45:A162, 1989. Cox TK, Kerem B, Rommens J, Iannuzzi MC, Drumm M, Collins FS, Dean M, Tsui L-C, CHAKRAVARTI A: Mapping of the cystic fibrosis gene using putative ancestral recombinants. American Journal of Human Genetics 45:A136, 1989. Deka R, Surti U, Majumder P, Hoffner L, Hauselman E, Ferrell RE, CHAKRAVARTI A: Gene centromere mapping in ovarian teratomas: chromosomes 1 and 13. Cytogenetics and Cell Genetics 51:986, 1989. Neiswanger K, Slaugenhaupt SA, Hughes HB, Frank E, Frankel Dr, McCarty MJ, CHAKRAVARTI A, Zubenko GS, Kupfer DJ, Kaplan BB: Evidence against linkage of unipolar affective disorder to the chromosome 11 genes HRAS1 and INS and the chromosome X marker DXS52. Cytogenetics and Cell Genetics 51:1051, 1989. Peterson MB, Warren AC, Slaugenhaupt SA, Lewis JG, CHAKRAVARTI A, Antonarakis SE: Linkage analysis of CD18 and D21S113 on chromosome 21. Cytogenetics and Cell Genetics 51:1059, 1989. Warren AC, Slaugenhaupt SA, Lewis JG, CHAKRAVARTI A, Antonarakis SE: A genetic linkage map of human chromosome 21: Cytogenetics and Cell Genetics 51:1102, 1989. Francis KA, Rauktis MB, Hughes HB, Hawthorne CJ, Frank E, Zubenko GS, Kaplan BB, Kupfer DJ, CHAKRAVARTI A, Neiswanger K: Linkage analysis of recurrent unipolar depression with the candidate genes for glucocorticoid receptor and somatostatin. American Journal of Human Genetics 47:A179, 1990. Gamble KK, Garver KL CHAKRAVARTI A, Colosomo M, Hannan M, Harding G: Parents of the mentally retarded: The support and communication they received. American Journal of Human Genetics 47:A122, 1990. Patel PI, Garcia C, Malamut R, Trask B, Guzzetta V, Franco B, Wright R, Slaugenhaupt S, CHAKRAVARTI A, Lupski JR: Linkage analysis on Charcot-Marie disease in French-Acadian kindreds. American Journal of Human Genetics 47:A194, 1990. Surti U, Deka R, Ferrell RE, CHAKRAVARTI A: Human ovarian teratomas: Molecular basis of non-disjunction and gene centromere mapping of chromosome 1 markers. American Journal of Human Genetics 47:A201, 1990. Antonarakis SE, and 19 others (includes A. CHAKRAVARTI): Parental origin of the extra chromosome in trisomy 21 revisited: DNA polymorphism analysis suggests that in 95% of cases the origin is maternal. American Journal of Human Genetics 47:A207, 1990. CHAKRAVARTI A, Reefer JE, Kim S, Cox DR: Statistical methods for radiation hybrid mapping. Genome Mapping and Sequencing Meeting, Cold Spring Harbor Laboratory, p. 36, May 2-6, 1990. Patel PI, Guzzetta V, Garcia C, Wright R, Greenberg F, Slaugenhaupt S, CHAKRAVARTI A, Lupski JR: Identification of markers mapping to 17p11.2 by differential IRSPCR and their application to CMT type 1A. Genome Mapping and Sequencing Meeting, Cold Spring Harbor Laboratory, p. 139, May 2-6, 1990. CHAKRAVARTI A, Reefer JE: Chromosome mapping using radiation hybrids: A mathematical analysis. American Journal of Human Genetics 47:A176, 1990. Antonarakis SE and 18 others (includes CHAKRAVARTI, A.): Determination of meiotic stage of the error of nondisjunction in trisomy 21 using DNA polymorphisms. Pediatric Research 29:127A, 1991. Li CC, Weeks DE, Ferrell RE, CHAKRAVARTI A: A new measure of similarity of DNA fingerprints. American Journal of Human Genetic 49:14, 1991. CHAKRAVARTI A, Deka R, Murray J, Antonarakis S, Ferrell R, Surti U: The analysis of nondisjunction in human ovarian teratomas using DNA markers. American Journal of Human Genetics 49:83, 1991. Cox TK, CHAKRAVARTI A: Detection of cystic fibrosis gene carriers: comparison of two screening strategies by simulations. American Journal of Human Genetics 49:321, 1991. Lupski JR, CHAKRAVARTI A, Slaugenhaupt S, Montes de Oca-Luna R, SaucedoCardenas O, Garcia CA, Patel PI, Linkage analysis of Charcot-Marie-Tooth disease type 1A in five French-Acadian kindreds. American Journal of Human Genetics 49:349, 1991. Slaugenhaupt SA, Angrist M, Learish RD, Lesh DH, Washington SS, CHAKRAVARTI A: Hirschsprung disease: Linkage analysis of candidate regions on human chromosome 2, 13 and 21. American Journal of Human Genetics 49:359, 1991. Cox TK, CHAKRAVARTI A, Perlin M: A expert system computer program for automatic construction of genetic linkage maps. American Journal of Human Genetics 49:366, 1991. Lasher L, Reefer J, CHAKRAVARTI A: Effects of genotyping errors on the estimation of chromosome map length. American Journal of Human Genetics 49:369, 1991. Washington SS, Zhou J, CHAKRAVARTI A: Human Chromosome 13 mapping reagents. American Journal of Human Genetics 49:391, 1991. Hong H-K, Deka R, Blaschak J, Surti U, Ferrell RE, CHAKRAVARTI A: Recombination differences in ovarian teratomas arising by meiosis I and meiosis II nondisjunction. American Journal of Human Genetics 51:A32, 1992. Cox TK, Perlin M, CHAKRAVARTI A: MultiMap: Automatic construction of linkage maps. American Journal of Human Genetics 51:A33, 1992. Puffenberger EG, Kompanek AJ, Kauffman ER, Mascari M, Ladda R, CHAKRAVARTI A: Pedigree analysis of a large Mennonite kindred segregating Hirschsprung disease. American Journal of Human Genetics 51:A106, 1992. Kompanek AJ, Kauffman ER, Blaschak J, CHAKRAVARTI A: GEMS: A comprehensive database for genetic epidemiological studies. American Journal of Human Genetics 51:A153, 1992. Chen H, Avramopoulos D, Polymeropoulos M, Blouin JL, CHAKRAVARTI A, Antonarakis SE: Characterization and mapping of a human brain cDNA that maps to chromosome 21. American Journal of Human Genetics 51:A184, 1992. McInnis MG, Blaschak J, Cox T, Avramopoulos, Blouin JL, Kalaitsidaki M, Sharma V, Petersen MB, Warren AC, van Broeckhoven C, Litt M, CHAKRAVARTI A, Antonarakis A: Linkage map of human chromosome 21 using DNA polymorphic markers genotyped by PCR. American Journal of Human Genetics 51:A195, 1992. Washington SS, Bowcock A, Hong H-K, Lesh D, CHAKRAVARTI A: An STS and DNA probe of human chromosome 13. American Journal of Human Genetics 51:A249, 1992. Angrist M, Puffenberger EG, Kauffman E, Slaugenhaupt SA, Washington SS, Gollin SM, CHAKRAVARTI A: Hirschsprung disease: Identification and analysis of candidate regions. American Journal of Human Genetics 51:A359, 1992. Matise TC, Perlin M, CHAKRAVARTI A: MultiMap an expert system for automated genetic linkage map construction by locus content. Genome Mapping and Sequencing Meeting, May 12-16, 1993. Perlin, TC, CHAKRAVARTI A: Inner Product Mapping: Efficient construction of highresolution integrated genome maps of YACs and STSs using radiation hybrids. American Journal of Human Genetics 53:A64, 1993. Hong HK, Washington SS, CHAKRAVARTI A: A novel human dispersed repetitive sequence. American Journal of Human Genetics 53:A69, 1993. Angrist M, Kauffman E, Matise TC, Slaugenhaupt SA, Bolk S, Puffenberger EG, Lipson A, Cass DT, Reyna T, Weeks DE, Weissenbach J, CHAKRAVARTI A: A genetic locus for Hirschsprung disease in the pericentromeric region of chromosome 10. American Journal of Human Genetics 53:A134, 1993. Talbot CC, Avramopoulos D, Gerken S, Blaschak J, CHAKRAVARTI A, Matsunami N, White R, Antonarakis SE: A (AAAG)n polymorphic marker with extraordinary hypermutability on human chromosome 21. American Journal of Human Genetics 53:A180, 1993. Washington SS, Farr JE, CHAKRAVARTI A, Richard CW: Radiation hybrid mapping of human chromosome 13. American Journal of Human Genetics 53:A191, 1993. Matise TC, Blaschak JE, Kompanek AJ, Weeks DE, CHAKRAVARTI A: Patterns of sexdifference and interference in the human genome. American Journal of Human Genetics 53:A262, 1993. Cohen T, Zeitune M, McGillivray B, Hall J, Lynn A, Aston C, CHAKRAVARTI A: Genetic analysis of microcephaly from two genetic service centers. American Journal of Human Genetics 53:A417, 1993. Nwokoro NA, Scott J, Callif-Daley F, Wenger SL, Mulvihill JJ, CHAKRAVARTI A: Clinical cytogenetic and molecular characterization of familial cat-eye cyndrome with biliary atresia and other aneuploidy. American Journal of Human Genetics 53:A585, 1993. Lynn AH, Kwoh CK, Venglish C, Aston CE, Osial, Jr TA, CHAKRAVARTI A: Genetic analysis of rheumatoid arthritis. American Journal of Human Genetics 53:A826, 1993. Nimgaonkar VL, Zhang XR, Caldwell JG, Ganguli R, CHAKRAVARTI A: Association with the dopamine D3 receptor gene locus among schizophrenic patients with a family history of schizophrenia. American Journal of Human Genetics 53:A838, 1993. Guida L, Rogan PK, CHAKRAVARTI A, Schwartz S, Nicholls RD: Isolatin of (CA)n repeats and characterization of the pericentromeric region of chromosome 15q. American Journal of Human Genetics 53:A1008, 1993. Oskato R, Bar-Shira A, Vanagaite L, Ziv Y, Ehrlich S, Rotman G, McConville CM, CHAKRAVARTI A: Ataxia-telangiectasia: allelic association with 11q22-23 markers in Moroccan-Jewish patients. American Journal of Human Genetics 53:A1055, 1993. Puffenberger EG, Kauffman ER, Bolk S, Angrist M, Matise TC CHAKRAVARTI A: Identity-by-descent mapping of Hirschsprung disease in a large Mennonite kindred. American Journal of Human Genetics 53:A1062, 1993. Weeks DE, Matise TC, CHAKRAVARTI A: Detection of tandemly duplicated genetic markers and implications for linkage analysis. American Journal of Human Genetics 53:A1100, 1993. Scott JA, Wenger SL, Steele MW, CHAKRAVARTI A: Molecular analysis of a partial trisomy 21 patient. American Journal of Human Genetics 53:A1227, 1993. Zhang XR, Brar JS, Hogge WA, Ganguli R, CHAKRAVARTI A: Dopamine D3 receptor gene locus: association with schizophrenia, as well age of onset. American Journal of Human Genetics 55:A160, 1994. Bolk S, Duggan DJ, CHAKRAVARTI A: Analysis of human chromosome 21 for a locus conferring susceptibility to Hirschsprung Disease. American Journal of Human Genetics 55:A181, 1994. Angrist M, Bolk S, CHAKRAVARTI A: Poster Symposium-Session. Mutation detection in autosomal dominant Hirschsprung disease: SSCP analysis of the RET protooncogene. American Journal of Human Genetics 55:A209, 1994. Puffenberger EG, Washington SS, Cass D, CHAKRAVARTI A: Mapping studies of Hirschsprung disease on chromosome 13q22. American Journal of Human Genetics 55:A4, 1994. Puffenberger EG, Bolk S, Kauffman ER, CHAKRAVARTI A: Mapping Susceptibility Genes for Hirschsprung Disease. Genome Mapping and Sequencing Meeting p 8, May 11-15, 1994. Nimgaonkar VL, Zhang XR, Brar J, Hogge W, Ganguli R, CHAKRAVARTI A: Dopamine D3 receptor gene locus: association with schizophrenia, as well as age at onset. American Journal of Human Genetics 55:A160, 1994. Puffenberger EG, CHAKRAVARTI A: Mapping genes underlying multigenic diseases in isolated populations: Hirschsprung disease, Genome Mapping and Sequencing Meeting. p 300, May 10-14, 1995. Washington SS, CHAKRAVARTI A: Allele frequency distribution in DNA pools. Genome Mapping and Sequencing Meeting, p 279, May 10-14, 1995. Matise TC, Farrell CK, CHAKRAVARTI A: Automated construction of radiation hybrid maps using multimap, Genome Mapping and Sequencing Meeting. p 95, May 1014, 1995. Matise TC, CHAKRAVARTI A: Automated construction of radiation hybrid maps using MultiMap. American Journal of Human Genetics 57:A15, 1995. Lynn AH, Puffenberger EG, Kashuk C, CHAKRAVARTI A: Multipoint linkage disequilibrium mapping using ancestral recombinants. American Journal of Human Genetics 57:A27, 1995. Puffenberger EG, Lynn A, Kunst C, Warren S, CHAKRAVARTI A Genetic variation in the Old Order Mennonites of Lancaster County, PA. American Journal of Human Genetics 57:A42, 1995. Soares MB, Bonaldo MF, Jelenc P, Lawton L, Venkatraj VS, Washington S, Wellington S, CHAKRAVARTI A, Identification and mapping of over 100 genes on human chromosome 13, American Journal of Human Genetics 57:A55, 1995. Hong HK, CHAKRAVARTI A, Molecular genetics of hydrocephalus: fine-structure mapping of the congenital hydrocephalus (ch) mouse mutation. American Journal of Human Genetics 57:A134, 1995. Blouin JL, Christie DH, CHAKRAVARTI A, Ledbetter D, Morris MA, Gos A, Antonarakis SE, A new dinulecotide repeat polymorphism at the telomere of chromosome 21q reveals significant difference between male and female rates of recombination. American Journal of Human Genetics 57:A187, 1995. CHAKRAVARTI A, Puffenberger EG, Mapping genes underlying multigenic diseases in isolated populations: Hirschsprung disease. American Journal of Human Genetics 57:A188, 1995. Hofstra RMW, Angrist M, Osinga J, Stulp RP, Tan G, Kamsteeg EJ, Schefferr H, CHAKRAVARTI A Buys CHCM, Mutation screening of the RET, EDNRB and ET3 genes in Hirschsprung patients. American Journal of Human Genetics 57:A193, 1995. Shaw SH, Nimgaonkar V, CHAKRAVARTI A, An association study of the D3 receptor gene and schizophrenia using a DNA pooling strategy. American Journal of Human Genetics 57:A203, 1995. Brown DM, Matise TC, Zangen SW, Winer ES, McLaughlin MG, Koike G, Simon JS, CHAKRAVARTI A, Jacob HJ: A 662 marker genetic linkage map of the rat. Human Gene Mapping (in press), 1996 Matise TC, Richard III CW, CHAKRAVARTI A, James MR: A high resolution radiation hybrid map of chromosome 11q21-qter: comparison of two whole-genome and on haploid radiation hybrid panels, Genome Mapping and Sequencing Meeting, p. 3, May 8-12, 1996. Brown DM, Matise TC, Simon JS, Koike G, McLaughlin M, Zangen s, Winer E, CHAKRAVARTI A, Jacob HJ: An integrated linkage map of the laboratory rat. Genome Mapping and Sequencing Meeting, p38, May 8-12, 1996. CHAKRAVARTI A, Lynn AH, Puffenberger E, Kashuk C: Genome sharing in relatives: mapping disease phenotypes by marker association studies. Genome Mapping and Sequencing Meeting p83, May 8-12, 1996. Shaw S, Zhang XR, CHAKRAVARTI A, Nimgaonkar V: An association study of the dopamine D3 receptor gene (DRD3) and schizophrenia. Genome Mapping and Seqencing Meeting p 217, May 8-12, 1996 Soares MB, Bonaldo MF, Jelenc P, Lawton L, Venkatraj S, Washington S, Wellington S, CHAKRAVARTI A, Warburton D: Identification and mapping of over 100 genes on human chromosome 13. Genome Mapping and Sequencing Meeting, p 224, May 812, 1996. Puffenberger EG, Lynn AH, Kashuk C, CHAKRAVARTI A: Genome-wide screen for Hirschsprung diesase susceptibility loci in a Mennonite kindred segregating endothelin-B receptor mutation. American Journal of Human Genetics 59:A3, 1996. Lynn AH, Kashuk C, Puffenberger, CHAKRAVARTI A: Genome sharing among relatives: theoretical considerations and application to the mapping of genes for complex traits. American Jourmal of Human Genetics 59: A58, 1996. Nath S, StJean P, Thiel B, Xu X, CHAKRAVARTI A, Schork N: Linkage disequilibrium mapping of quantitative trait loci in isolated of inbred populations using threshold defined cases and controls. American Journal of Human Genetics 59:A58, 1996. Antonarakis SE, Blouin JL, Curran M, Luebbert H, Kazazian HH, Dombroski B, Housman D, Ton C, Karayiorgou M, CHAKRAVARTI A, Wolyniec P, Lasseter VK, Nestadt G, Pulver AE: Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32. American Journal of Human Genetics 59: A210, 1996. Bolk S, Angrist M, Croaker D, Kruglak L, CHAKRAVARTI A: Segregation of a chromosome 9q susceptibility gene in RET-linked Hirschsprung families. American Journal of Human Genetics 59:A213, 1996. Nimgaonkar VL, Rudert WA, Zhang XR, Ganguli R, CHAKRAVARTI A, Trucco M: Association between schizophrenia and markers on chromosome 6p21: evidence from three case-control studies. American Journal of Human Genetics 59: A230, 1996. Angrist M, Bolk S, Halushka M, Lapchak P, and CHAKRAVARTI A: Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient, American Journal of Human Genetics 59: A246, 1996. Matise TC, Kashuk C, Richard III CW, CHAKRAVARTI A, James MR: Radiation hybrids: panels, distances, density, and MultiMap. American Journal of Human Genetics 59: A308, 1996. CHAKRAVARTI A, Kashuk C, Puffenberger E: Genetic variation in an isolated population: The Old Order Mennonites of Eastern Pennsylvania. Human Evolution meeting, Cold Spring Harbor Laboratory, p. 73, 1997. Carrasquillo M, Zlotogora J, CHAKRAVARTI A: Two connexin 26 mutations of recent origin segregating in a single inbred kindred with nonsyndromic recessive deafness. American Journal of Human Genetics 61:A28, 1997. Bolk S, Pelet A, Hofstra R, Salomon R, Angrist M, Buys C, Lyonnet S, CHAKRAVARTI A: Multigenic inheritance of Hirschsprung disease. American Journal of Human Genetics 61: A 41, 1997. Hong H, Bentley K, CHAKRAVARTI A: Fine-structure mapping of congenital hydrocephalus (ch): a mouse model for human hydrocephalus. American Journal of Human Genetics 61: A154, 1997. Matise T, Kashuk C, Thangarajah T, CHAKRAVARTI A, James M: Combining radiation hybrid panels to increase mapping power. American Journal of Human Genetics 61:A238, 1997. Nath S, CHAKRAVARTI A: The assessment of sibling relationship. American Journal of Human Genetics 61:A287, 1997. Pulver A, Antonarakis S, Blouin J, Gehrig C, Radhakvishna U, Loetscher E, Kazazian H, Dombroski B, Lasseter V, Nestadt G, Nath S, CHAKRAVARTI A, De Marchi N, Housman D, Wolyniec P: A genome search for schizophrenia susceptibility loci: sib-pair sharing of alleles on chromosome 5q22-5q31 in 54 pedigrees. American Journal of Human Genetics 61:A291, 1997. Angrist M, Jing S, Halushka M, Bentley K, Bolk S, Nallasamy S, Fox G, CHAKRAVARTI A: Genomic organization of RET-signaling pathway genes and mutation analysis in Hirschsprung disease patients. American Journal of Human Genetics 61:A303, 1997. CHAKRAVARTI A: Genomic strategies for identifying genes underlying complex disease. FASEB Journal A1014, 1997. Halushka M, Fan J-B, Berno A, Kashuk C, Hsie L, Weder A, Cooper R, Lipshutz R, CHAKRAVARTI A: Analysis of gene variation within and between humans and primates using high-density oligonucleotide arrays. Genome Maping, Sequencing & Biology, Cold Spring Harbor Laboratory, p.248, 1998. Pulver AE, Blouin J-L, Dombroski B, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, Thornquist M, Ullrich G, Gehrig C, Radhakrishnan U, Snyder SE, Balk KG, CHAKRAVARTI A, Housman DE, Kazazian HH, Antonarakis SE: Multigenic inheritance of schizophrenia: a genome scan identifies susceptibility loci on chromosomes 13q32 and 8p21. American Journal of Human Genetics 63:A44, 1998. Halushka M, Fan J-B, Keefer R, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, CHAKRAVARTI A: Patterns of SNP diversity in human genes. Genome Maping, Sequencing & Biology, Cold Spring Harbor Laboratory, p.5, 1999. Mathews D, Hudson RR, Eichler EE, CHAKRAVARTI A: Sequence variation and linkage disequilibrium on the X chromosome. Genome Maping, Sequencing & Biology, Cold Spring Harbor Laboratory, p.7, 1999.