Pediatric Genetics and Metabolism
2015
Division Introduction
The Division of Pediatric Genetics and Metabolism, under the direction of Ralph
DeBerardinis, M.D., Ph.D., is responsible for the evaluation, diagnosis and treatment of
children with genetic disorders, including birth defects, malformation syndromes,
genetically-defined developmental delays and inborn errors of metabolism.
Approximately one in four admissions to tertiary care pediatric hospitals results from
conditions with a genetic basis. Although many genetic conditions are rare, there are
hundreds of these diseases and they collectively account for a disproportionate amount
of illness and death in children. Furthermore, identifying the genetic basis of rare
conditions often leads to specific treatments that dramatically improve the health of the
patient.
There are three major components to the Division’s mission: Patient Care, Research and
Education.
Ralph DeBerardinis, M.D., Ph.D.
Patient Care
With a large and growing team of physicians, genetic counselors, nurse practitioners, dieticians and social workers, we are a
major regional resource for children and families with genetic diseases. Our team evaluates more than 250 patients each
month with known or suspected genetic diseases. Particular strengths of our clinical program include:
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We have the largest regional practice specializing in the diagnosis and treatment of children with inborn errors of
metabolism.
We have several clinics specializing in malformation syndromes and genetic forms of developmental delay.
We are experts in the use and interpretation of advanced genetic diagnostics, including tests involving nextgeneration sequencing.
We are the only clinic in Dallas that accepts referrals from the Texas Department of Health's newborn screening
program for biochemical disorders.
We have the largest regional multidisciplinary clinic to evaluate and follow children with Down syndrome.
We provide 24/7 coverage for our patients, with an M.D. Medical Geneticist on call at all times.
Research
Our clinical team is unique in that it is fully synchronized with a state-of-the-art research program in the Children’s Medical
Center Research Institute, a joint venture between UT Southwestern and Children’s Health. Our Genetic and Metabolic
Disease Program (GMDP) within the CRI is comprised of a team of scientists dedicated to identifying new genetic diseases
and developing new ways to treat children with genetic disorders. We use advanced, highly efficient technologies to
evaluate each patient’s genetic and metabolic individuality. State-of-the-art laboratory-based approaches in cellular and
molecular biology are then used to understand the precise consequences of the DNA mutations identified in our patients.
Our research team is funded through federal, state and private grant support. Specific research goals within the GMDP
include efforts to:
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Discover new genetic causes of childhood diseases.
Understand the genetic basis of metabolic diversity and its relationship to health and disease in children.
Develop new diagnostic methods to detect genetic diseases in patients.
Devlop imaging techniques to monitor metabolic states non-invasively in patients.
Establish clinical trials to assess the effect of new treatments.
Construct new disease models using genetically-modified mice, and use these models to test the effect of
experimental therapies.
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Pediatric Genetics and Metabolism
2015
Education
We are a vital part of UT Southwestern Medical Center's mission to train medical students, residents, fellows, and allied
health professionals in pediatrics, genetics and metabolism. We teach medical students and pediatric residents throughout
their training, manage an accredited residency program to train the next generation of physicians in Medical Genetics, and
provide continuing medical education in genetics and metabolism to the Dallas-Fort Worth medical community.
Faculty
The Division has five full-time and one part-time faculty and several residents, all with special interests in the diagnosis and
management of a variety of genetic conditions such as Down syndrome, Marfan syndrome, osteogenesis imperfecta, and
other disorders of skeletal development.
Honors / Awards
Ralph DeBerardinis
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Named organizer of 2015 Keystone Symposium on “Integrating Metabolism and Tumor Biology”
Named Chair of Metabolism and Cancer Section for American Association for Cancer Research
Mary Carlin
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Texas Super Doctors, Texas Monthly Magazine
Garrett Gotway and Angela Scheuerle
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Best Pediatric Specialists, D Magazine
Invited Lectures
Ralph DeBerardinis (from over 20 regional, local and international invited lectures in 2015)
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Keystone Symposium on Integrating Metabolism and Tumor Biology. Vancouver, Canada, January 2015.
o Conventional and Unconventional Roles of Mitochondrial Enzymes in Tumor Cell Metabolism
AACR, Society for Nuclear Medicine and Molecular Imaging, National Meeting, San Diego, CA, January 2015
o Understanding Metabolic Heterogeneity in Cancer Cells and Tumors
American Association for Cancer Research, Annual Meeting, Philadelphia, PA, April 2015
o Understanding Metabolic Heterogeneity in Cancer Cells and Tumors
AACR Special Conference on Cancer Metabolism, Bellevue, WA, June 2015
o Metabolic Heterogeneity in Cancer Cells and Tumors
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56 Annual Short Course on Medical and Experimental Mammalian Genetics. Jackson Laboratory, Bar Harbor, ME,
July 2015.
o Metabolomics and Metabolic Flux Analysis
Metabolic Signaling & Disease: From Cell to Organism. Cold Spring Harbor Symposium. Cold Spring Harbor, NY,
August 2015.
o Metabolic Heterogeneity in Cancer Cells and Tumors
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Pediatric Genetics and Metabolism
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2015
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46 Annual Symposium of the Princess Takamatsu Cancer Research Fund: Onco-metabolomics: A New Clue to
Understand Carcinogenesis, Cancer Biology and to Develop Novel Diagnostics and Therapeutics. Tokyo, Japan,
November 2015
o Metabolic Heterogeneity in Cancer Cells and Tumors
Banbury Conference on Tumor Cell Metabolism. Cold Spring Harbor, NY, December 2015.
o Metabolic Heterogeneity in Cancer
Mary Carlin
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47 Annual Kenneth C. Haltalin Pediatrics for the Practitioner Conference, Grapevine, TX, April 2015
o “Down Syndrome: Multi-disciplinary Follow-up and Clinic Update”
Jonathan Rios
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Annual Meeting of the Pediatric Orthopaedic Society of North America, Atlanta, GA, April, 2015
o “Tibial Pseudoarthrosis with NF1”
Education and Training
The Division of Pediatric Genetics and Metabolism is committed to
providing quality medical education for medical students, residents, and
fellows.
Medical Student Education
Genetics is an essential component of all facets of medicine, and the
Division of Pediatric Genetics and Metabolism is proud to take a major
role in the education of medical students and other trainees within the
UT Southwestern system.
First-Year Medical Students
We are highly involved in the first year medical school curriculum, including:
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Medical Biochemistry Course: protein and amino acid metabolism, hyperammonemia and urea cycle defects,
defects in amino acid metabolism (PKU, MSUD, etc.), purine and pyrimidine metabolism, and treatment of inborn
errors of metabolism
Medical Genetics Course: population genetics, inborn errors of metabolism, assessing genetic risk/pedigree
analysis, genetic screening, genetic counseling, and ethical issues in genetics
Third-Year Medical Students
Third-year medical students participate in pediatrics rotations involving:
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Case studies in clinical genetics
Genetics clinic outpatient rotations
Clinical genetics consultations
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Pediatric Genetics and Metabolism
2015
Fourth-Year Medical Students
We offer an elective in clinical genetics to fourth-year medical students involving outpatient genetics clinics and inpatient
genetics consultations.
Medical Genetics Interest Group
We provide mentorship to UT Southwestern medical students considering a career in Medical Genetics. This highly
successful interest group meets periodically to discuss new developments in clinical and research-based genetics. We seek
to provide an environment to educate students about career opportunities in this exciting and rapidly expanding area of
pediatrics.
Resident Education
We play a major role in the education of residents at UT Southwestern. Some of our activities include:
Medical Genetics Residency Program
The Department of Pediatrics, through the Division of Pediatric Genetics and Metabolism, is the sponsoring clinical
department for our ACGME certified training program in Medical Genetics. Medical Genetics is a specialty of its own, rather
than being a subspecialty of Pediatrics, Internal Medicine, or Obstetrics/Gynecology. The training program encompasses
many clinical departments at UT Southwestern, including Pediatrics, Internal Medicine, Obstetrics/Gynecology (prenatal
diagnosis), Neurology and Pathology (Clinical Molecular Genetics, Cytogenetics, and Biochemical Genetics), among others.
The program is directed by Garrett Gotway, M.D., Ph.D., a board certified pediatrician and medical geneticist. Given its
interdepartmental nature, the residency is managed through the McDermott Center for Human Growth and Development,
the Human Genetics Center of UT Southwestern. Learn more about the Medical Genetics program.
Pediatrics
The Division provides didactic teaching for the pediatric residents, including but not limited to:
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Clinical dysmorphology
Cause and evaluation of birth defects
Common chromosome anomalies
Newborn screening
Acute metabolic disorders
Genetic storage disorders
We provide direct teaching for the residents in the regular departmental clinical conferences, as well as part of our
inpatient consultation service.
Finally, there is a Clinical Genetics elective available for second- and third-year pediatric residents. The residents see
outpatients in our clinics and inpatients for consultation services under the supervision of one of the members of the
Division faculty. We encourage the residents to participate in clinical research projects if they are interested.
Other Specialties
Trainees in other departments also spend time in our clinics. Residents in Neurology, Pathology, and other specialties may
receive some of their training through our Division.
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Pediatric Genetics and Metabolism
2015
Residents
Unlike other subspecialties, training in genetics crosses departmental lines and is considered a residency rather than a
fellowship. The Department of Pediatrics is the sponsoring clinical department, and the residency is managed through
the McDermott Center for Human Growth and Development, the Genetics Center at UT Southwestern.
Research Activities
The Division has been involved in clinical research projects involving clinical trials of new therapies, as well as multicenter
studies in clinical and molecular genetics. We have been involved in translational research, helping to make a bridge
between the basic science researchers in molecular genetics and the
patients.
Our large and varied patient population gives us the ability to conduct
studies in several areas.
The laboratory of Dr. DeBerardinis is interested in understanding the
metabolic activities that support cell growth and proliferation in
normal cells and in cancer. In order to produce daughter cells, which
occur with each round of the cell cycle, cells need to double their
biomass (proteins, lipids, and nucleic acids). This is a tremendous
challenge requiring energy, building blocks, and the coordination of a
large number of metabolic pathways.
Dr. DeBerardinis is exploring the idea that these metabolic activities are orchestrated by growth factor-stimulated signal
transduction pathways, which direct cells to take up abundant nutrients and allocate them into the proper metabolic
pathways. He wants to understand how signal transduction impacts metabolic fluxes during physiologic states of cell
proliferation (e.g., embryogenesis, wound healing, activation of the immune system) and during pathological states (e.g.,
cancer).
To do this, the DeBerardinis Lab uses a combination of techniques in molecular biology, cell biology, and biochemistry,
coupled with metabolic flux analysis using mass spectrometry and nuclear magnetic resonance, and animal models of
metabolism and cancer. Current projects include developing imaging probes to identify abnormal metabolic activities in
tumors and in children with metabolic diseases.
Clinical Activities
We accept referrals from all pediatricians and children's hospitals in the Dallas/Fort Worth metroplex, as well as from more
distant areas within and beyond Texas. The Division’s clinical activities at Children’s Medical Center are focused in the
following areas:
Metabolic Disease Clinic
The Metabolic Diseases Clinic provides evaluation and testing for children with known or suspected inborn errors of
metabolism (IEMs). IEMs are a family of hundreds of rare diseases caused by mutations in the genes that allow the body to
produce energy and grow. We are a regional center of excellence in these diseases, establishing the diagnosis in affected
children, counseling and educating their families about these conditions, and optimizing therapy tailored to the needs of
each child. Blood, urine, enzyme, and DNA analyses are performed for diagnosis. Patients with a confirmed diagnosis are
then provided with nutritional evaluation, genetic counseling and psychosocial assessment as well as long-term care.
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Pediatric Genetics and Metabolism
2015
The Metabolic Disease Clinic is closely associated with the Newborn
Screening Clinic. We are a major referral center for the Texas Newborn
Screening Program. This statewide program seeks to identify newborn
babies with any of 30 different treatable diseases, many of which are
genetic/metabolic in nature. A large fraction of the approximately
400,000 babies born in Texas each year are evaluated through our
Division. When a baby in North Texas is found to have a metabolic
abnormality on the newborn screen, the family is referred to our team
for definitive diagnosis, treatment, and long-term care if necessary.
Through the Texas Newborn Screening Program, more than 75 children
with genetic metabolic diseases are identified each year, and the
coordinated care of these children by the Metabolic Disease Clinic at
Children’s significantly improves their development and survival.
Genetics/Dysmorphology Clinic
Children with conditions involving birth defects, developmental delay or mental retardation, or other known or suspected
genetic disorders receive evaluation and testing in the Genetics/Dysmorphology Clinic. Chromosomal and DNA analysis for
diagnosis of genetic disease is provided, as well as psychosocial assessment, counseling, and comprehensive case
management with referral to medical specialists, community resources, and support groups. Family history analysis and risk
counseling to discuss reproductive options also are available through a team of board-certified genetic counselors.
Down Syndrome Clinic
Faculty and staff with the Down Syndrome Clinic have more than 50 collective years of experience in caring for children
with Down Syndrome and provide comprehensive treatment for children and their families, including medical management,
genetic counseling, physical, speech and motor development evaluation and recommendations, psychosocial support,
screening and referral for behavioral and psychiatric problems, and referral to community agencies for educational
intervention or therapies.
Altogether, the Division staffed over 2,600 outpatient encounters in these clinics in 2015. This volume more than doubles
the volume from two years ago.
Current Grant Support
Ralph DeBerardinis
Grantor: NIH 1R01 CA157996 05
Title of Project: Metabolic regulators of tumor cell growth
Role: Principal Investigator
Dates: 7/2011 – 8/2016
Grantor: V Foundation Translational Research Award
Title of Project: Translational studies in lung cancer metabolism: creating new paradigms in diagnosis and therapy
Role: Principal Investigator
Dates: 11/2013 – 10/2016
Grantor: CPRIT RP130272
Title of Project: The metabolic phenome of human lung cancer
Role: Principal Investigator
Dates: 6/2013 – 5/2016
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Pediatric Genetics and Metabolism
2015
Grantor: Welch Foundation Grant I-1733
Title of Project: Glutamine-Dependent Reductive Carboxylation (GDRC): A Metabolic Achilles' Heel in Cancer
Role: Principal Investigator
Dates: 7/2013 – 6/2016
Grantor: CPRIT RP101243
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Title of Project: Metabolic Imaging of Hyperpolarized C Substrates in Animal Models of Cancer
Role: Co-Principal Investigator of sub-project (PI-Sherry)
Dates: 9/2010 – 8/2015
Grantor: NIH/NCI 1 R01 CA154843-01A1
Title of Project: Defining the metabolic phenotype of low grade gliomas in vivo
Role: Co-Investigator (PI-Maher)
Dates: 4/2012 – 3/2017
Grantor: DOD W81XWH-12-1-0464
Title of Project: Oxygen-Regulated Metabolic Homeostasis: Therapeutic Implications of Paradigm Shift
Role: Principal Investigator of Metabolomics sub-contract (PI-Semenza)
Dates: 9/2012 – 9/2017
Grantor: NCI R01 CA168815 03
Title of Project: Metabolic Adaptive Responses in Cancer
Role: Principal Investigator of Metabolomics sub-contract (PI-Plas)
Dates: 4/2013 – 3/2018
Grantor: UL1TR001105 03
Title of Project: UT Southwestern Center for Translational Medicine
Role: Co-Director of Core 1 (PI-Toto)
Dates: 7/2013 – 6/2018
Grantor: NIH 5 R01 CA174786 02
Title of Project: Signaling and Targeting of 6-Phosphogluconate Dehydrogenase in Human Cancers
Role: Principal Investigator of Metabolomics sub-contract (PI-Chen)
Dates: 4/2014 –2/2019
Jonathan Rios
Grantor: Texas Scottish Rite Hospital for Children
Title of Project: Genomic Characterization of Hereditary Spastic Paraplegia
Role: Principal Investigator
Dates: 4/2012 – 4/2016
Grantor: Children’s Clinical Research Advisory Council (CCRAC)
Title of Project: Genetics of IMAGe Syndrome
Role: Principal Investigator
Dates: 2/2013 – 1/2016
Grantor: Pediatric Orthopaedic Society of North America
Title of Project: Uncoupling Cell Signaling and Mineralization Defects in Neurofibromin Deficient Tibial
Psuedoarthrosis
Role: Principal Investigator
Dates: 5/2015 – 4/2017
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Pediatric Genetics and Metabolism
2015
Grantor: NIH
Title of Project: Genetic and Metabolic Basis of Familial Lipodystrophies
Role: Co-Investigator
Dates: 9/2012 – 8/2017
Grantor: NIH
Title of Project: UT Southwestern Center for Translational Medicine
Role: Key Personnel
Dates: 9/2013 – 4/2018
Grantor: Texas Scottish Rite Hospital for Children
Title of Project: Solving the Genetics of Pediatric Musculoskeletal Disorders
Role: Co-Investigator
Dates: 6/2012 – 5/2016
Grantor: Texas Scottish Rite Hospital for Children
Title of Project: Genetic Studies of Idiopathic Clubfoot
Role: Principal Investigator
Dates: 11/2014 – 10/2019
Grantor: Texas Scottish Rite Hospital for Children
Title of Project: MAPK Signaling in Stem Cell Function and Bone Development
Role: Principal Investigator
Dates: 5/2015 – 4/2020
Grantor: NIH
Title of Project: Target Pyrophosphate Excess to Prevent, Predict and Treat NF1 Pseudoarthrosis
Role: Co-Investigator
Dates: 12/2015 – 11/2020
Grantor: NIH
Title of Project: The G.O.O.D. for Kids Program
Role: Principal Investigator
Dates: 9/2015 – 8/2016
Grantor: Pediatric Orthopaedic Society of North America
Title of Project: Genome-wide Approach to Genetic Causes of Congenital Pseudoarthrosis of the Tibia (CPT)
Role: Principal Investigator
Dates: 5/2013 – 4/2015
Grantor: Texas Scottish Rite Hospital for Children
Title of Project: Program for Medical Genetics
Role: Co-Investigator
Dates: Annual institutional support
Grantor: Texas Scottish Rite Hospital for Children
Title of Project: Identification of de novo mutations causing Spina Bifida in discordant twins
Role: Principal Investigator
Dates: 2/2013 – 2/2016
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Pediatric Genetics and Metabolism
2015
Peer-Reviewed Publications
1.
Block KI, Gyllenhaal C, Lowe L, Amedei A, Amin AR, Amin A, Aquilano K, Arbiser J, Arreola A, Arzumanyan A, Ashraf
SS, Azmi AS, Benencia F, Bhakta D, Bilsland A, Bishayee A, Blain SW, Block PB, Boosani CS, Carey TE, Carnero A, Carotenuto
M, Casey SC, Chakrabarti M, Chaturvedi R, Chen GZ, Chen H, Chen S, Chen YC, Choi BK, Ciriolo MR, Coley HM, Collins AR,
Connell M, Crawford S, Curran CS, Dabrosin C, Damia G, Dasgupta S, DeBerardinis RJ, et al. Designing a broad-spectrum
integrative approach for cancer prevention and treatment. Seminars in Cancer Biology 2015;35 Suppl:S276-304.
2.
Boroughs LK, DeBerardinis RJ. Metabolic pathways promoting cancer cell survival and growth. Natural Cell Biology
2015;17:351-9.
3.
Buescher JM, Antoniewicz MR, Boros LG, Burgess SC, Brunengraber H, Clish CB, DeBerardinis RJ, et al. A roadmap
for interpreting (13)C metabolite labeling patterns from cells. Current Opinion in Biotechnology 2015;34:189-201.
4.
Cetinbas N, Daugaard M, Mullen AR, Hajee S, Rotblat B, Lopez A, Li A, DeBerardinis RJ, Sorensen PH. Loss of the
tumor suppressor Hace1 leads to ROS-dependent glutamine addiction. Oncogene 2015;34:4005-10.
5.
Chakrabarti G, Moore ZR, Luo X, Ilcheva M, Ali A, Padanad M, Zhou Y, Xie Y, Burma S, Scaglioni PP, Cantley LC,
DeBerardinis RJ, et al. Targeting glutamine metabolism sensitizes pancreatic cancer to PARP-driven metabolic catastrophe
induced by ss-lapachone. Cancer & Metabolism 2015;3:12.
6.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D,
Gotway G, et al. Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound
heterozygotes. Orphanet Journal of Rare Diseases 2015;10:99.
7.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry
MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein
Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, et al. De novo mutations in NALCN cause a syndrome
characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. American Journal of
Human Genetics 2015;96:462-73.
8.
DeNicola GM, Chen PH, Mullarky E, Sudderth JA, Hu Z, Wu D, Tang H, Xie Y, Asara JM, Huffman KE, Wistuba II,
Minna JD, DeBerardinis RJ, Cantley LC. NRF2 regulates serine biosynthesis in non-small cell lung cancer. Nature Genetics
2015.
9.
Egnatchik RA, DeBerardinis RJ. Metabolism: Growth in the fat lane. Nature 2015;520:165-6.
10.
Eksambe D, Agim N, Uddin N, Gotway G, Pascual JM. IKBKG Mutation with Incontinentia Pigmenti and RingEnhancing Encephalopathy. JAMA Neurology 2015;72:1533-5.
11.
Erez A, DeBerardinis RJ. Metabolic dysregulation in monogenic disorders and cancer - finding method in madness.
Nature Reviews Cancer 2015;15:440-8.
12.
Foley SB, Rios JJ, Mgbemena VE, et al. Use of whole genome sequencing for diagnosis and discovery in the cancer
genetics clinic. EBioMedicine 2015;2:74-81.
13.
Griss T, Vincent EE, Egnatchik R, Chen J, Ma EH, Faubert B, Viollet B, DeBerardinis RJ, Jones RG. Metformin
Antagonizes Cancer Cell Proliferation by Suppressing Mitochondrial-Dependent Biosynthesis. PLoS Biology
2015;13:e1002309.
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Pediatric Genetics and Metabolism
2015
14.
Hensley CT, DeBerardinis RJ. In vivo analysis of lung cancer metabolism: nothing like the real thing. The Journal of
Clinical Investigation 2015;125:495-7.
15.
Herranz D, Ambesi-Impiombato A, Sudderth J, Sánchez-Martín M, Belver L, Tosello V, Xu L, Wendorff AA, Castillo
M, Haydu JE, Márquez J, Matés JM, Kung AL, Rayport S, Cordon-Cardo C, DeBerardinis RJ, Ferrando AA. Metabolic
reprogramming induces resistance to anti-NOTCH1 therapies in T cell acute lymphoblastic leukemia. Nature Medicine
2015;21:1182-9.
16.
Hirschey MD, DeBerardinis RJ, Diehl AM, et al. Dysregulated metabolism contributes to oncogenesis. Seminars in
Cancer Biology 2015.
17.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB,
Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter
AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C,
Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, et al. Mandibulofacial Dysostosis with
Microcephaly: Mutation and Database Update. Human Mutation 2015.
18.
Jiang L, Xiao L, Sugiura H, Huang X, Ali A, Kuro-o M, Deberardinis RJ, Boothman DA. Metabolic reprogramming
during TGFbeta1-induced epithelial-to-mesenchymal transition. Oncogene 2015;34:3908-16.
19.
Jin L, Li D, Alesi GN, Fan J, Kang HB, Lu Z, Boggon TJ, Jin P, Yi H, Wright ER, Duong D, Seyfried NT, Egnatchik R,
DeBerardinis RJ, et al. Glutamate dehydrogenase 1 signals through antioxidant glutathione peroxidase 1 to regulate redox
homeostasis and tumor growth. Cancer Cell 2015;27:257-70.
20.
Keppler-Noreuil KM, Rios JJ, Parker VE, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing
eligibility criteria, differential diagnosis, and evaluation. American Journal of Medical Genetics Part A 2015;167A:287-95.
21.
Kocabas F, Xie L, Xie J, Yu Z, DeBerardinis RJ, et al. Hypoxic metabolism in human hematopoietic stem cells. Cell &
Bioscience 2015;5:39.
22.
Langlois PH, Scheuerle AE. Descriptive epidemiology of birth defects thought to arise by new mutation. Birth
Defects Research Part A, Clinical and Molecular Teratology 2015.
23.
Lin AP, Abbas S, Kim SW, Ortega M, Bouamar H, Escobedo Y, Varadarajan P, Qin Y, Sudderth J, Schulz E, Deutsch A,
Mohan S, Ulz P, Neumeister P, Rakheja D, Gao X, Hinck A, Weintraub ST, DeBerardinis RJ, et al. D2HGDH regulates alphaketoglutarate levels and dioxygenase function by modulating IDH2. Nature Communications 2015;6:7768.
24.
Lin R, Elf S, Shan C, Ortega M, Bouamar H, Escobedo Y, Varadarajan P, Qin Y, Sudderth J, Schulz E, Deutsch A,
Mohan S, Ulz P, Neumeister P, Rakheja D, Gao X, Hinck A, Weintraub ST, DeBerardinis RJ, et al. 6-Phosphogluconate
dehydrogenase links oxidative PPP, lipogenesis and tumour growth by inhibiting LKB1-AMPK signalling. Nature Cell Biology
2015;17:1484-96.
25.
Lou TF, Sethuraman D, Dospoy P, Srivastva P, Kim HS, Kim J, Ma X, Chen PH, Huffman KE, Frink RE, Larsen JE, Lewis
CM, Um SW, Kim DH, Ahn JM, DeBerardinis RJ, et al. Cancer-specific production of N-acetylaspartate via NAT8L
overexpression in non-small cell lung cancer and its potential as a circulating biomarker. Cancer Prevention Research 2015.
26.
Lumata L, Yang C, Ragavan M, Carpenter N, DeBerardinis RJ, Merritt ME. Hyperpolarized (13)C Magnetic
Resonance and Its Use in Metabolic Assessment of Cultured Cells and Perfused Organs. Methods in Enzymology
2015;561:73-106.
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Pediatric Genetics and Metabolism
2015
27.
Mai CT, Isenburg J, Langlois PH, Alverson CJ, Gilboa SM, Rickard R, Canfield MA, Anjohrin SB, Lupo PJ, Jackson DR,
Stallings EB, Scheuerle AE, Kirby RS; National Birth Defects Prevention Network. Population-based birth defects data in the
United States, 2008 to 2012: Presentation of state-specific data and descriptive brief on variability of prevalence. Birth
Defects Research Part A, Clinical and Molecular Teratology 2015;103:972-93.
28.
Martínez-Reyes I, Diebold LP, Kong H, Schieber M, Huang H, Hensley CT, Mehta MM, Wang T, Santos JH, Woychik
R, Dufour E, Spelbrink JN, Weinberg SE, Zhao Y, DeBerardinis RJ, Chandel NS. TCA Cycle and Mitochondrial Membrane
Potential Are Necessary for Diverse Biological Functions. Molecular Cell 2015.
29.
Montal ED, Dewi R, Bhalla K, Ou L, Hwang BJ, Ropell AE, Gordon C, Liu WJ, DeBerardinis RJ, et al. PEPCK
Coordinates the Regulation of Central Carbon Metabolism to Promote Cancer Cell Growth. Molecular Cell 2015.
30.
Moore Z, Chakrabarti G, Luo X, Ali A, Hu Z, Fattah FJ, Vemireddy R, DeBerardinis RJ, et al. NAMPT inhibition
sensitizes pancreatic adenocarcinoma cells to tumor-selective, PAR-independent metabolic catastrophe and cell death
induced by beta-lapachone. Cell Death & Disease 2015;6:e1599.
31.
Namazy J, Cabana MD, Scheuerle AE, et al. The Xolair Pregnancy Registry (EXPECT): the safety of omalizumab use
during pregnancy. The Journal of Allergy and Clinical Immunology 2015;135:407-12.
32.
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of
Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, et al.
Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation 2015;36:1048-51.
33.
O'Brien JL, Langlois PH, Lawson CC, Scheuerle AE, et al. Maternal occupational exposure to polycyclic aromatic
hydrocarbons and craniosynostosis among offspring in the national birth defects prevention study. Birth Defects Research
Part A, Clinical and Molecular Teratology 2015.
34.
Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL, Jr, Carlin ME, et al. Delineation of candidate genes
responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. European Journal of
Human Genetics: EJHG 2015;23:54-60.
35.
Peña CG, Nakada Y, Saatcioglu HD, Aloisio GM, Cuevas I, Zhang S, Miller DS, Lea JS, Wong KK, DeBerardinis RJ, et al.
LKB1 loss promotes endometrial cancer progression via CCL2-dependent macrophage recruitment. The Journal of Clinical
Investigation 2015.
36.
Pichumani K, Mashimo T, Baek HM, Ratnakar J, Mickey B, DeBerardinis RJ, et al. Conditions for (13)C NMR
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