Publications


Weight Perturbation Alters Leptin Signal Transduction in a Region-Specific Manner throughout the Brain.
PLoS One 2017 20;12(1):e0168226. Epub 2017 Jan 20.
Department of Pediatrics, Division of Molecular Genetics, Columbia University, College of Physicians and Surgeons, New York, New York, United States of America.

Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.
Stem Cell Res 2016 Nov 16;17(3):526-530. Epub 2016 Aug 16.
Columbia University, Department of Pediatrics, Division of Molecular Genetics, United States; Naomi Berrie Diabetes Center, United States; New York Obesity Research Center, United States. Electronic address:

ZNF70, a novel ILDR2-interacting protein, contributes to the regulation of HES1 gene expression.
Biochem Biophys Res Commun 2016 Sep 25;477(4):712-716. Epub 2016 Jun 25.
Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi, 329-0498, Japan.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Am J Hum Genet 2016 Mar;98(3):562-570
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.
Nat Commun 2016 Feb 1;7:10494. Epub 2016 Feb 1.
MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.


Effects of a novel MC4R agonist on maintenance of reduced body weight in diet-induced obese mice.
Obesity (Silver Spring) 2014 May 9;22(5):1287-95. Epub 2014 Jan 9.
Department of Pediatrics, Division of Molecular Genetics, Columbia University, College of Physicians and Surgeons, New York, NY, USA.

Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
Cell Metab 2014 May;19(5):767-79
Naomi Berrie Diabetes Center and Division of Molecular Genetics, Department of Pediatrics, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA. Electronic address:




Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling.
J Biol Chem 2011 Jan 31;286(3):2155-70. Epub 2010 Oct 31.
Division of Molecular Genetics, Department of Pediatrics and Naomi Berrie Diabetes Center, Columbia University, New York, New York 10032, USA.

Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2.
Neurobiol Dis 2009 Mar 25;33(3):499-508. Epub 2008 Dec 25.
Division of Molecular Genetics and the Naomi Berrie Diabetes Center, Columbia University Medical College, Russell Berrie Medical Science Pavilion, Room 620, 1150 St. Nicholas Avenue, New York, NY 10032, USA.

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