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Journal of Lipid Research|June 24, 2018
FTO mediates cell-autonomous effects on adipogenesis and adipocyte lipid content by regulating gene expression via 6mA DNA modificationsJayne F Martin Carli, Charles A LeDuc, Yiying Zhang, et al.
Genetic Testing and Molecular Biomarkers|March 29, 2011
Novel splice mutation in microthalmia-associated transcription factor in Waardenburg SyndromeLaura Brenner, Kelly Burke, Charles A Leduc, et al.
The Journal of Biological Chemistry|November 2, 2010
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 signalingGeorge Stratigopoulos, Charles A LeDuc, Maria L Cremona, et al.
The Journal of Clinical Investigation|November 20, 2002
The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain proteinLoan K Phan, Feng Lin, Charles A LeDuc, et al.
Plos One|June 5, 2018
DMSO increases efficiency of genome editing at two non-coding lociGeorge Stratigopoulos, Maria Caterina De Rosa, Charles A LeDuc, et al.
Cold Spring Harbor Molecular Case Studies|April 24, 2019
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delayVolkan Okur, Charles A LeDuc, Edwin Guzman, et al.
Human Molecular Genetics|October 4, 2017
Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypesLisa Cole Burnett, Gabriela Hubner, Charles A LeDuc, et al.
Science Translational Medicine|January 3, 2020
Physiological consequences of transient hyperleptinemia during discrete developmental periods on body weight in miceAlicja A Skowronski, Charles A LeDuc, Kylie S Foo, et al.
Journal of Inherited Metabolic Disease|May 12, 2011
A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritisLisa Imundo, Charles A Leduc, Saurav Guha, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 14, 2021
Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registryEmily Breidbart, Liyong Deng, Patricia Lanzano, et al.
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