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Neurology. Genetics|August 7, 2023
Genomic Diagnoses for Ectopic Intracerebral CalcificationsChangrui Xiao, Thomas Cassini, Daniel Benavides, et al.Journal of Neuroimmunology|December 2, 2023
Adult-onset neurodegeneration in XMEN diseaseDaniel Benavides, Anusha Ebrahim, Juan C Ravell, et al.Molecular Genetics & Genomic Medicine|July 18, 2022
Adults with lysosomal storage diseases in the undiagnosed diseases networkChangrui Xiao, Mary Koziura, Heidi Cope, et al.Neuromuscular Disorders : NMD|March 1, 2011
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old manTyler Mark Pierson, Gary Tart, David Adams, et al.Frontiers of Medicine|July 17, 2013
Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in ChinaXiaohong Duan, Thomas Markello, David Adams, et al.American Journal of Medical Genetics. Part A|December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndromeRyan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.Human Mutation|February 1, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritanceMurat Sincan, Dimitre R Simeonov, David Adams, et al.American Journal of Medical Genetics. Part A|May 5, 2026
Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature ReviewEthan W Hollingsworth, Changrui XiaoHuman Mutation|February 2, 2012
Detecting false-positive signals in exome sequencingKarin V Fuentes Fajardo, David Adams, , et al.BMJ Case Reports|May 11, 2013
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorderJacqueline Brady, Aditi Trehan, Dennis Landis, et al.Pageof 49