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American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.Proceedings of the National Academy of Sciences of the United States of America|July 14, 2021
Thousands of induced germline mutations affecting immune cells identified by automated meiotic mapping coupled with machine learningDarui Xu, Stephen Lyon, Chun Hui Bu, et al.Journal of Medical Genetics|May 9, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)Sen Zhao, Yuanqiang Zhang, Weisheng Chen, et al.Nature Genetics|February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismJohn J Reynolds, Louise S Bicknell, Paula Carroll, et al.Nature Medicine|August 25, 2015
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseasesYun R Li, Jin Li, Sihai D Zhao, et al.Pageof 8