Solving the Mystery of Disease Through Research

DNA data chart, genetic chromosome barcoding vector illustration.

Department of Pediatrics Annual Report – 2022

Molecular Genetics

The primary mission of the Division of Molecular Genetics is research. The division operates across several scientific and administrative areas of the university, with studies ranging from the physiology and genetics of body weight homeostasis to neurogenetics of autism and the genetic causes of rare inborn errors of structure, metabolism, and development.

The division’s 70 staff members receive research support totaling approximately $10 million per annum from a wide range of sources.

The laboratory is also the location of the Molecular Biology/Molecular Genetics Core laboratory of the New York Nutrition and Obesity Research Center and the Columbia Diabetes Research Center (both NIH centers), and the lab co-administers research activities for the Naomi Berrie Diabetes Center.

The division has nationally recognized clinical and research programs, including:

Russell Berrie Foundation Programs

  • Pre-Translational Research Program: Provides funding  to lower barriers to rapid translation of basic diabetes research findings into human subjects
  • Berrie Program in Cellular Therapies of Diabetes: Evaluates the molecular basis for the development and function of insulin-producing cells in the pancreas and hypothalamic cells of the brain
  • Russell Berrie Foundation Obesity Research Initiative: Promotes transformative research in the neuroscience of ingestive behavior and body weight regulation
  • Frontiers in Diabetes Research: A full-day symposium with international speakers on a topic related to diabetes and metabolism. Provides research support for seven fellows in labs throughout the Columbia and NYC biomedical institutions

New York Obesity Research Center (NYONRC)

  • NYONRC focuses on the etiology, pathophysiology, and complications of obesity; treatment strategies; the physiology of weight regulation; and new tools and strategies for the study of nutrition and obesity.

Columbia Diabetes Research Center

  • The center provides research support for investigators pursuing research on diabetes and metabolic disorders.

Genetic Basis Disease Programs

The division has programs focused on determining the genetic basis of a range of diseases, including:

  • Cardiac disease
  • Breast Cancer Family Registry Cohort
  • Pancreatic cancer high-risk assessment
  • Center for Research on the Ethical, Legal and Social Implications of Psychiatric Genetics
  • Genetic studies and diagnosis of developmental disorders
  • Gene mutation and rescue in human diaphragmatic hernia
  • Developmental mechanisms of trachea-esophageal birth defects
  • Ovid Columbia (neurogenetic disorders)
  • Pulmonary arterial hypertension
  • Duchenne Muscular Dystrophy
  • Autism and neurodevelopmental disorders
  • Molecular bases for obesity and diabetes
  • Consequences of weight reduction on energy homeostasis
  • Primary cilium in body weight regulation
  • Wound healing in diabetes

Genomic Medicine Integration

  • Whole exome and whole genome sequencing
  • Columbia Electronic Medical Records and Genomics (eMERGE): Integration of genomic medicine in the electronic medical record (EMR)
  • Precision medicine
    • Identify the right treatment for the right patient at the right time
    • Increase the effectiveness of health care at reduced cost with improved outcomes, decreased adverse effects, greater patient satisfaction
    • Use precision medicine to maintain health
    • Use information from the individual patient in real time to stratify disease risk, response, and ultimately find the most effective and acceptable options for the individual to maintain health and quality of life
    • Develop a comprehensive program for an extremely large and ethnically/economically/educationally diverse population that is not available in other locations around the country

Faculty Research Areas of Expertise

  • Michael Rosenbaum, MD: Regulation and responses of behavioral, metabolic, neurological, neuroendocrine, and autonomic system to changes in body weight
  • Vidhu Thaker, MD: Genetic determinants of severe early childhood obesity and its clinical consequences for children from minority populations
  • Yiying Zhang, PhD : Metabolism of obesity and leptin biology; C neuronal development
  • Wendy K. Chung, MD, PhD: Performs human genetic research of monogenic and complex traits, including congenital heart disease, pulmonary hypertension, breast cancer, pancreatic cancer, obesity, diabetes, and autism. Maps and clones human genes.
  • Claudia Doege, MD: Elucidates the neuro-molecular mechanisms of human obesity to gain insights into the molecular neurophysiology of body weight regulation in humans
  • Dietrich M. Egli, PhD: Studies genome stability and the cell cycle in early embryonic development, during somatic cell reprogramming and cell differentiation. Uses stem cell-derived human islets to understand molecular physiology of diabetes.
  • Charles LeDuc, PhD: Focuses on the molecular neurophysiology of the regulation of mammalian energy homeostasis
  • George Stratigopoulos, PhD: Identifies new molecular pathways of the central nervous system involved in body weight regulation
  • Lori Zeltser, PhD: Explores how development and environment impacts body weight regulation and influence later susceptibility to obesity and eating disorders
  •  Rudolph Leibel, MD: The genetics of obesity and non-insulin-dependent diabetes (diabetes mellitus type 2); lab members have mapped, cloned, and identified mutations in the obese, diabetes, and fatty genes in humans, rats, and mice to define the physiological basis by which signaling networks regulate body mass and composition. Uses cells derived from human stem cells to understand the biology of body weight regulation and diabetes.

Education

The Division of Molecular Genetics provides opportunities for graduate students to receive training and mentorships leading to a doctorate degree. Interested students who have been accepted into the Columbia University Graduate School of Arts and Sciences can rotate through our laboratories before deciding whether to consider their research projects in our labs under the mentorship of our faculty.

  • Frontiers in Diabetes Research provides fellowship awards to post docs and awards to research scholars based on a competitive application process. Award recipients receive awards for one year, with the opportunity to continued research support for a second year. This program includes an annual topic-specific research symposium.
  • Russell Berrie Obesity Research Initiative (Leibel and Zuker) provides awards to senior investigators for research projects in the area of neuroscience of ingestive behavior and body weight regulation. Additional awards are made for feasibility studies. There is a competitive application process each year. Awards may be made for one year, with the opportunity for a second year of funding.
  • The Molecular Genetics Fellowship is a non-ACGME accredited program that provides opportunities for postdoctoral training in the genetic basis for monogenic or complex medical and physiological phenotypes using both human and animal models. Areas of special interest are obesity, diabetes types 1 and 2, MODY, breast cancer, pulmonary hypertension, congenital heart disease, cardiomyopathies, inherited arrhythmias, congenital diaphragmatic hernias, oral clefts, and spinal muscular atrophy.
 

Research

Programs and Centers include:

  • Berrie Program in Cellular Therapies of Diabetes: An international program emphasizing stem cell use to evaluate the molecular basis for the development and function of insulin-producing cells in the pancreas.
  • Russell Berrie Obesity Research Initiative: Promotes transformative research in the neuroscience of ingestive behavior and body weight regulation by leveraging the great strengths of programs in neuroscience, energy metabolism, and diabetes at Columbia.
  • New York Obesity Research Center (NYORC): Sponsored by the NIH and directed by Dr. Leibel, the NYORC has core facilities in human phenotyping, animal phenotyping and molecular biology/molecular genetics. Themes for this center include: the etiology, pathophysiology, and complications of obesity; treatment strategies; the physiology of weight regulation; development of new tools and strategies for the study of nutrition and obesity; and the training and development of scientists to study nutrition and obesity. A pilot and feasibility program funds research projects by Columbia scientists.
  • Columbia Diabetes Research Center (DRC): Directed by  Domenico Accili, MD, of the Department of Medicine, this NIH center provides research support for investigators pursuing research on diabetes and metabolic disorders. The center has core facilities and a pilot and feasibility program which funds research projects by Columbia scientists.
  • Screening for Monogenic Forms of Diabetes and Obesity: We receive samples from around the world including for genetic evaluation of neonatal diabetes, isolated familial diabetes, MODY, Wolfram syndrome, and obesity.

Major Grants

  • Molecular genetic analysis of human obesity: Identify the genes that mediate susceptibility to obesity in humans. NIH/NIDDK; R01DK52431-24. Principal Investigators: Rudolph Leibel, MD and Wendy K. Chung, MD, PhD.
  • New York Obesity Research Center studies the etiology, treatment strategies and the physiology of weight. NIH/NIDDK. P30DK26687-41. Principal Investigators: Rudolph Leibel, MD and Wendy Chung, MD, PhD; Co-Investigators: Claudia Doege, MD, Dieter Egli, PhD, Vidhu Thaker, MD, Yiying Zhang, PhD, and Charles LeDuc, PhD.
  • Diabetes & Endocrinology Research Center to promote interactions among research groups in diabetes, obesity, lipid metabolism, structural biology, immunology and beta cell transplantation. NIH/NIDDK. P30DK63608-18. Principal Investigators: Domenico Accili, MD and Rudolph Leibel, MD.
  • Functional imaging and eating behavior among FTO genotypes in pre-obese children. NIH/NIDDK. R01DK097399-05. Principal Investigators: Michael Rosenbaum, MD and Laurel Mayer, MD.
  • Study of coding variants in human obesity and their functional characterization using human iPSC-derived cellular models. NIH/NIDDK. 5R01DK110113-05. Principal Investigators: Ruth Loos, PhD and Claudia Doege, MD.
  • Center for identification and study of individuals with atypical diabetes mellitus. NIH/NIDDK. U54DK118612-02. Principal Investigators: Louis Philipson, MD, PhD and Rudolph Leibel, MD.
  • Evaluating the effects of diabetes linked exome sequence variants on beta cell differentiation, proliferation, function and adaptation to hyperglycemia. Regeneron Pharmaceuticals. Principal Investigators: Rudolph Leibel, MD, Wendy K. Chung, MD, PhD, Dietrich Egli, PhD, and Claudia Doege, MD.
  • Research initiative on the neurobiology of obesity. Russell Berrie Foundation. Principal Investigators: Rudolph Leibel, MD and Charles Zuker, PhD.
  • Role of the kinesin KIF1A in neurological disease. NIH/NINDA. 1R01NS114636-01. Principal Investigators: Richard Vallee, PhD and Wendy K. Chung, MD, PhD.
  • Molecular approaches to gene identification in congenital heart disease. NIH/NINDS. U01HL131003. Principal Investigator: Wendy K. Chung, MD, PhD.
  • Gene mutation and rescue in human diaphragmatic hernia. NIH/NICHD. 1P01HD068250PI. Principal Investigators: Patricia Donahue, MD and Wendy K. Chung, MD, PhD.
  • Prenatal cytogenetic diagnosis by genome sequencing to investigate the use of molecular testing by genome sequence analysis in prenatal diagnostic testing. NIH/NICHD/ELSI. R01HD055651060. Principal Investigators: Ronald Wapner, MD and Wendy K. Chung, MD, PhD.
  • Integrate cancer genomics data in genetic studies and diagnosis of developmental disorders. NIH/NHLBI. R03HL147197. Principal Investigators: Wendy K. Chung, MD, PhD and Yufeng Shen, PhD.
  • Breast cancer family cohort. NIH/NHLBI. U01CA1649204. Principal Investigators: Mary Beth Terry, PhD and Wendy K. Chung, MD, PhD.
  • Deep phenotyping in electronic health records for genomic medicine to develop data science and informatics methods to accelerate deep phenotyping using the unstructured data in electronic health records for genomic diagnostic decision support and genomic knowledge discovery. NLM/NHGRI. 1R01LM012895-01. Principal Investigators: Chunhua Weng, PhD and Wendy K. Chung, MD, PhD.
  • Development of recommendations and policies for genetic variant reclassification. NIH/NHGRI. R01HG010365. Principal Investigators: Wendy K. Chung, MD, PhD and Paul Appelbaum, MD.
  • Predictors of recidivism to obesity in weight-reduced individuals. NIH/NIDDK. 1UG3/UH3 DK128302. Principal Investigator: Rudolph Leibel, MD; Co-Principal Investigators: Dympna Gallagher, EdD, Laurel Mayer, MD, and Michael Rosenbaum, MD.
  • Neuroanatomic and functional characterization of cerebellar circuits mediating ingestive behaviors. NIH/NIDDK. R01DK131086-01A1. Principal Investigator: Nathaniel Sawtell, PhD and Rudolph Leibel, MD.
  • New York Nutrition Obesity Research Center. NIH/NIDDK. P30 DK26687-42. Principal Investigator: Rudolph Leibel, MD.
  • Targeted mass spectrometric assays in diabetes and obesity (TaMADOR). DP1 Catalyst. NIH. Virtual NHLBI Workshop on Medical Student Research Training External Advisor: Rudolph Leibel, MD.
  • Rescue: Rare disease detection and escalation support via a learning health system. NIH/National Human Genome Research Institute. 1R01HG012655-01. Co-Investigator: Wendy K. Chung, MD, PHD. 
  • Prospective genetic risk evaluation and assessment (PROGRESS) in autism. NIH/NICHD. P50HD109879. Multi-Principal Investigator: Wendy K. Chung, MD, PhD.
  • ClinGen expert curation panel for severe structural anomalies and stillbirth. NIH. U24HD104588. Principal Investigator: Ronald Wapner, MD; Co-Investigator: Wendy K. Chung, MD, PhD.
  • Clinical and Translational Science Award. NCATS/NIH. 2UL1TR001873-07. Co-Investigator: Wendy K. Chung, MD, PHD.
  • Molecular approaches to gene identification in congenital heart disease. NIH. U01HL131003. Co-Investigator: Wendy K. Chung, MD, PHD.
  • Developmental mechanisms of trachea-esophageal birth defects. 1P01HD093363-06. Principal Investigators: Aaron M. Zorn, PhD and Wendy K. Chung, MD, PhD.
  • The essentialome of the early differentiation and disease modeling using genome-wide screening in haploid human pluripotent stem cells. US-Israel Binational Science Foundation. Principal Investigator: Nissim Benvenisty, MD, PhD; Co-Principal Investigator: Dietrich Egli, PhD.
  • In vivo analysis of human islet graft infiltration and its immunomodulation by antigen-specific therapy. JDRF. Principal Investigator: Remi Creusot, PhD; Co-Investigator: Dietrich Egli, PhD. 
  • Understanding diabetes risk at the insulin VNTR locus. Weezie Family Foundation. Principal Investigator: Dietrich Egli, PhD.
  • Metabolic impact of antiretroviral therapy regimens on people living with HIV. NIH. R01 DK131503-01. Principal Investigator: Rupak Shivakoti, PhD; Co-Investigator: Michael Rosenbaum, MD.
  • Gene prioritization at the FTO locus. New York Nutrition Obesity Research Center Pilot & Feasibility grant. Principal Investigator: George Stratigopoulos, PhD.
  • Establishing the role of OCRL as a novel ciliary gene in weight regulation in human and murine models. NIDDK. 1R21DK129893-01A1. Principal Investigator: Vidhu Thaker, MD; Co-Investigator: George Stratigopoulos, PhD.
  • A role of human-specific alternative exons for brain development and ciliopathies. Interdisciplinary Research Initiatives Seed (IRIS) Fund Program. Principal Investigator: Chaolin Zhang, PhD; Co-Investigator: George Stratigopoulos, PhD.
  • RPGRIP1L and the evolution of splicing. 2023 Scientific Innovations Award. Brain Research Foundation. Principal Investigator: Chaolin Zhang, PhD; Co-Investigator: George Stratigopoulos, PhD.
  • Genetics of early childhood obesity and its clinical implications. Mentored Career Development Award. NIH/NIDDK. 5DK110539. Principal Investigator: Vidhu Thaker, MD.
  • Assessing DGKK signaling pathway as a SNORD116 target in the pathogenesis of PWS. Foundation for Prader-Willi Research (FPWR). Principal Investigator: Yiying Zhang, PhD.

Pending or being re-submitted

  • Fair phenotype annotation and genomic reinterpretation. NHGRI. Pending
  • R01. Principal Investigators: Chunhua Weng, PhD, Wendy K. Chung, MD, PHD, and Kai Wang, PhD.
  • Virtual systematic identification of drug targets of obesity candidate genes. NIH. Pending R01. Principal Investigator: Vanderbilt; Subcontract Principal Investigator: Claudia Doege, MD.
  • Metabolic alteration in presymptomatic and symptomatic amyotrophic lateral sclerosis. NIH. K23 NS131586. Principal Investigator: Lee; Co-Mentor: Michael Rosenbaum, MD, Neil Schneider, MD, PhD. 
  • Polycationic engineering to treat obesity. NIH. RO1 PA19-056. Principal Investigators: Li Qiang, PhD, and Kam Leong, PhD; Co-Investigator: Michael Rosenbaum, MD.
  • Infant nutrition, diet, and energy stores (INDES). ByHeart, Inc. Principal Investigator: Michael Rosenbaum, MD; Co-Investigators: Maxine Ashby-Thompson, EdD, MPH and Cristina Fernandez, MD.
  • The importance of ciliary RPGRIP1L in NPY/AgRP neurons and the regulation of food intake. NIH. R01 DK136807-01. Principal Investigator: George Stratigopoulos, PhD.

Selected Publications

Wang L, Liu Y, Stratigopoulos G, Panigrahi S, Sui L, Zhang Y, Leduc CA, Glover HJ, De Rosa MC, Burnett LC, Williams DJ, Shang L, Goland R, Tsang SH, Wardlaw S, Egli D, Zheng D, Doege CA, Leibel RL Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons. J Clin Invest. 2021;131(8):e146287. doi: 10.1172/JCI146287. PMID: 33630762.

De Rosa MC, Glover HJ, Stratigopoulos G, LeDuc CA, Su Q, Shen Y, Sleeman MW, Chung WK, Leibel RL, Altarejos JY, Doege CA. Gene expression atlas of energy balance brain regions. JCI Insight. 2021;6(16):e149137. doi: 10.1172/jci.insight.149137.PMID: 34283813.

Lee YK, Diaz B, Deroose M, Lee SX, Belvedere S, Accili D, Leibel RL, Lin HV. FOXO1 inhibition synergizes with FGF21 to normalize glucose control in diabetic mice. Mol Metab. 2021;49:101187. doi: 10.1016/j.molmet.2021.101187. Epub 2021 Feb 10. PMID: 33577983. 

Pahl MC, Doege CA, Hodge KM, Littleton SH, Leonard ME, Lu S, Rausch R, Pippin JA, De Rosa MC, Basak A, Bradfield JP, Hammond RK, Boehm K, Berkowitz RI, Lasconi C, Su C, Chesi A, Johnson ME, Wells AD, Voight BF, Leibel RL, Cousminer DL, Grant SFA. Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits. Nat Commun. 2021;12(1):6749. doi: 10.1038/s41467-021-27001-4. PMID: 34799566.

González BJ, Zhao H, Niu J, Williams DJ, Lee J, Goulbourne CN, Xing Y, Wang Y, Oberholzer J, Blumenkrantz MH, Chen X, LeDuc CA, Chung WK, Colecraft HM, Gromada J, Shen Y, Goland RS, Leibel RL, Egli D. Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. Commun Biol. 2022;5(1):779. doi: 10.1038/s42003-022-03696-z. PMID: 35918471.

Kitamoto T, Lee YK, Sultana N, Watanabe H, McKimpson WM, Du W, Fan J, Diaz B, Lin HV, Leibel RL, Belvedere S, Accili D. Chemical induction of gut β-like-cells by combined FoxO1/Notch inhibition as a glucose-lowering treatment for diabetes. Mol Metab. 2022;66:101624. doi: 10.1016/j.molmet.2022.101624. PMID: 36341906.

Skowronski AA, Shaulson ED, Leibel RL, LeDuc CA. The postnatal leptin surge in mice is variable in both time and intensity and reflects nutritional status. Int J Obes (Lond). 2022;46(1):39-49. doi: 10.1038/s41366-021-00957-5. Epub 2021 Sep 2. PMID: 34475504 

Fan X, Pan H, Chung WK, Shen Y. SHINE: Protein language model based pathogenicity prediction for short inframe insertion and deletion variants. Brief Bioinform. 2023;24(1):bbac584. doi: 10.1093/bib/bbac584. PMCID: PMC9851320.

Oyama NM, Vaneynde P, Reynhout S, Pao EC, Timms A, Fan X, Foss K, Derua R, Janssens V, Chung WK, Mirzaa GM. Clinical, neuroimaging and molecular characteristics of PPP2R5D related neurodevelopmental disorders: An expanded series with functional characterization and genotype-phenotype analysis. J Medical Genet. 2022 Oct. Online ahead of print. doi: 10.1136/jmg-2022-108713.

Liu C, Ta CN, Havrilla J, Chung WK, Nestor JG, Spotnitz M, Geneslaw A, Wang K, Weng C. OARD: Open Annotation for Rare Diseases and their phenotype based on real-world data. Am J Hum Genet. 2022;109(9):1591–1604. doi: 10.1016/j.ajhg.2022.08.002. PMID: 35998640. 

Chung WK, Berg JS, Botkins JR, Brenner SE, Broscos JP, Brothers KB, Currier RJ, Gaviglio A, Kowtoniuk WE, Olson C, Puryear ML, Saarinen A, Sahin M, Shen Y, Sherr EH, Watson MS, Hu Z. Newborn screening for neurodevelopmental diseases: Are we there yet? Am J Med Genet C Semin Med Genet. 2022;190(2):222–230. doi: 10.1002/ajmg.c.31988. PMID: 35838066. 

Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O’Roak BJ, Geschwind DH, Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Integrating de novo and inherited variants in 42, 6074 autism cases identifies mutations in new moderate risk genes. Nat Genet. 2022;54(9):1305–1319. doi: 10.1038/s41588-022-01148-2. PMID: 35982159. 

Flex E, Albadri S, Radio FC, Cecchetti S, Lauri A, Priolo M, Kissopoulos M, Carpentieri G, Fasano G, Venditti M, Bellacchio E, Welch CL, Colombo PC, Kochav SM, Chang R, Bressi R, Trivisano M, Micalizzi A, Magliocca V, Mancini C, Pizzi S, De Santis F, Rosello M, Specchio N, Compagnucci C, McWalter K, Chung WK, Del Bene F, Tartaglia M. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Hum Mol Genet. 2023;32(3):473–488. doi: 10.1093/hmg/ddac213. PMID: 36018820. 

Lipman A, Ziegler A, Xiao F, Yufeng S, Chung WK. Clinical and genetic characterization of CACNA1A-related disease. Clin Genet. 2022;102(4):288–295. doi: 10.1111/cge.14180. PMID: 35722745. 

Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaec N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Dipple AL, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, Leduc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Soquet SS, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022;45(5):996–1012. doi: 10.1002/jimd.12526. PMID: 35621276. 

Lee SSJ, Appelbaum PS, Chung WK. Challenges and potential solutions to health disparities in genomic medicine. Cell. 2022;185(12):2007–2010. doi: 10.1016/j.cell.2022.05.010. PMID: 35688129

Appelbaum PS, Burke W, Parens E, Zeevi D, Arbour L, Garrison N, Bonham VL, Chung WK. Is there a way to reduce the inequities in variant interpretation on the basis of ancestry? Am J Hum Genet. 2022;109(6):981–988. doi: 10.1016/j.ajhg.2022.04.012. PMID: 35659933. 

Gruber D, Puryear ML, Armstrong N, Scavina M, Tavakoli NP, Caggana M, Chung WK. Newborn screening for Duchenne muscular dystrophy—early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. Am J Med Genet C Semin Med Genet. 2022;190(2):197–205. doi: 10.1002/ajmg.c.32000. PMID: 36152336.

Zhong G, Ahimaz P, Edwards NA, Hagen JJ, Faure C, Lu Q, Kingma P, Middlesworth W, Khlevner K, El Fiky M, Schindel D, Fialkowski E, Kashyap A, Forlenza S, Kenny AP, Zorn AM, Shen Y, Chung WK. Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. HGG Adv. 2022;3(3):100107. doi: 10.1016/j.xhgg.2022.100107. PMID: 35519826. 

Fenster R, Ziegler A, Kentros C, Geltzeiler A, Green-Snyder LA, Brooks E, Chung WK. Characterization of phenotypic range DYRK1A haploinsufficiency syndrome using standardized behavioral measures. Am J Med Genet A. 2022;188(7):1954–1963. doi: 10.1002/ajmg.a.62721.  PMID: 35285131.

Tirado-Class N, Hathaway C, Chung WK, Dungrawala H. PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity. Cold Spring Harb Mol Case Stud. 2022;8(5):a006212. doi: 10.1101/mcs.a006212. PMID: 35863899. 

Herb BR, Glover HJ, Bhaduri A, Colantuoni C, Bale TL, Siletti K, Linnarsson S, Hodge R, Lein E, Kriegstein AR, Doege CA, Ament SA. Single-cell genomics reveals region-specific developmental trajectories  underlying neuronal diversity in the human hypothalamus. bioRxiv. 2022 Oct. doi: https://doi.org/10.1101/2021.07.20.453090. Preprint. Under review Sci Adv.

González B J, Zhao H, Niu J, Williams DJ, Lee J, Goulbourne CN, Xing Y, Wang Y, Oberholzer J, Blumenkrantz MH, Chen X, Leduc CA, Chung WK, Colecraft HM, Gromada J, Shen Y, Goland RS, Leibel RL, Egli D. Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. Commun Biol. 2022;5(1):779. PMID:35918471.

Palmerola K, Amrane S, De Los Angeles A, Xu S, Wang N, de Pinho M, Zuccaro MV, Taglialatela A, Massey D, Turocy J, Robles A, Subbiah A, Prosser B, Lobo R, Ciccia A, Koren A, Baslan T, Egli D. Replication stress impairs chromosome segregation and preimplantation development in human embryos. Cell. 2022 Aug 4;185(16):2988–3007.e20. doi: 10.1016/j.cell.2022.06.028. PMID:35858625.

LeDuc CA, Skowronski AA, Rosenbaum M. The role of leptin in the development of energy homeostatic systems and the maintenance of body weight. Front. Physiol. 2021;12:789519. doi: 10.3389/fphys.2021.789519.

Goh C, Bohn B, Marotz C, Molinsky R, Roy S, Paster B, C-Y Chen, M Rosenbaum, M Yuzefpolskaya, P Colombo, M Desvarieux, P Papapanou, D Jacobs, R Knight, R Demmer. Nitrite generating and depleting capacity of the oral microbiome risk: Results from ORIGINS. J Amer Heart Assoc 2022 May 17;11(10):e023038. doi: 10.1161/JAHA.121.023038.

Bhangoo A, Gupta R, Shelov SP, Carey DE, Accacha S, Fennoy I, Altshuler L, Lowell B, Rapaport R, Rosenfeld W, Speiser P, Ten S, Rosenbaum M. Fasting serum IGFBP-1 as a marker of insulin resistance in diverse school children groups. Front Endocrinol (Lausanne). 2022;13:84036. doi: 10.3389/fendo.2022.840361.

Demmer R, Marotz C, Molinsky R, Martino C, Bohn B, Roy S, Rosenbaum M, Desvarieux M, Yuzefpolskaya M, Paster B, Jacobs DR, Colombo PC, Papapanou PN, Knight R. Early microbial markers of periodontal disease in the Oral Infections Glucose Intolerance and Insulin Resistance Study (ORIGINS). NPJ Biofilms Microbiomes. 2022;8:30. doi: 10.1038/s41522-022-00289-w.

Rosenbaum M. Passive prenatal exposure to cannabinoids promotes weight gain  and dysglycemia in childhood. J Clin Endocrinol Metab. 2022;107(8):e3530–e3531.

Rosenbaum, M. Appetite, energy expenditure and the regulation of energy balance. Gastroenterol Clin. 2022. In Press.

Rosenbaum M, Thaker V. Special considerations relevant to pediatric obesity. Endotext. 2022 Oct. Bookshelf ID: NBK279060. PMID: 25905288.

Wan Q, Huang B, Li T, Xiao Y, Du W, Wang BZ, Rosenbaum M, Leong KW, Qiang L. Selective targeting of visceral adiposity by polycation nanomedicine. Nat. Nanotechnol. 2022;17:1311–1321.

Thaker VV, Deng S, Gorski G, Vedantam S, Clish C, Salem R, Hirschhorn JN. Baseline metabolomic profile as potential biomarker for weight change after Roux-en-Y bypass surgery. J Endocr Soc. 2021;5(1):A5. https://doi.org/10.1210/jendso/bvab048.009.

François M, Fernández-Gayol O, Zeltser LM. A framework for developing translationally relevant animal models of stress-induced changes in eating behavior. Biol Psychiatry. 2021;91(10):P888–897. doi: 10.1016/j.biopsych.2021.06.020. PMID: 34433512.

François M, Canal Delgado I, Shargorodsky N, Leu CS, Zeltser LM. Assessing effects of stress on feeding behaviors in laboratory mice. eLife. 2022;11:e70271 doi:10.7554/eLife.70271. PMID: 35167441. PMCID: PMC8846584.

Presentations/Abstracts

Iannello G, Sena C, Pais L, Sathanayagam R, Genetti C, Noel A, Phornphutkul C, Benson L, Dannheim K, Agrawal PB, Stratigopoulos GS, Thaker VV. OCRL tissue-specific alternative splicing in humans results in divergent phenotypes. 64th Annual Meeting of the American Society of Human Genetics. 2021 Oct 18–22; Virtual.

Garduno AC, Richard EL, Cao S, Thaker V, Salem RM. Genetic risk of insulin resistance is associated with kidney disease in type 2 diabetics and non-diabetics. Paper presented at the American Diabetes Association 81st Scientific Sessions. 2021 Oct; Virtual.

Batzli G, Guo K, Zhao H, Burnett L, LeDuc CA, Shen Y, Leibel RL, Zhang Y. Identification of mouse hypothalamic transcripts and pathways affected by Snord116 deletion. 2022 PWS Research Symposium, Foundation for Prader-Willi Research.

Guo K, Batzli G, LeDuc CA, Stratigopoulos G, Burnett L,  Leibel RL, Zhang Y. Snord116 in neurons of Nkx2.1 lineage is required for the regulation of postnatal growth. 2022 PWS Research Symposium, Foundation for Prader-Willi Research.