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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2018
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter studyMahim Jain, Allison Tam, Jay R Shapiro, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.Molecular Genetics & Genomic Medicine|January 21, 2016
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathPhilip M Boone, Bo Yuan, Shen Gu, et al.American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.Cell|April 19, 2016
Asprosin, a Fasting-Induced Glucogenic Protein HormoneChase Romere, Clemens Duerrschmid, Juan Bournat, et al.Nature Medicine|November 7, 2017
Asprosin is a centrally acting orexigenic hormoneClemens Duerrschmid, Yanlin He, Chunmei Wang, et al.American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.Human Molecular Genetics|July 6, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.American Journal of Human Genetics|May 29, 2018
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromeM Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, et al.Pageof 6