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JCI Insight|November 28, 2023
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibitionChristine W Gao, WanYing Lin, Ryan C Riddle, et al.Human Molecular Genetics|January 30, 2022
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndromeKevin Brennan, Hong Zheng, Jill A Fahrner, et al.Plos Genetics|June 10, 2024
Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1Christine W Gao, WanYing Lin, Ryan C Riddle, et al.American Journal of Medical Genetics. Part A|May 16, 2012
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1Jill A Fahrner, Aisha Frazier, Suha Bachir, et al.Genes|January 23, 2024
KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and HumansAllison J Kalinousky, Teresa R Luperchio, Katrina M Schrode, et al.JCI Insight|September 27, 2019
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome miceJill A Fahrner, Wan-Ying Lin, Ryan C Riddle, et al.ACS Applied Materials & Interfaces|March 17, 2011
Electroplate and lift lithography for patterned micro/nanowires using ultrananocrystalline diamond (UNCD) as a reusable templateDavid B Seley, Daniel A Dissing, Anirudha V Sumant, et al.Journal of Magnetic Resonance Imaging : JMRI|October 12, 2012
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiencyMaria Zulfiqar, Doris D M Lin, Marinette Van der Graaf, et al.American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.NPJ Genomic Medicine|November 9, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole bloodMichael A Levy, David B Beck, Kay Metcalfe, et al.Pageof 5