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Plos Genetics|February 28, 2017
Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13Yihan Zhang, Haigen Huang, Gexin Zhao, et al.
American Journal of Medical Genetics. Part A|October 21, 2009
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitusChristèle du Souich, Athena Chou, Jingyi Yin, et al.
Plos Genetics|February 4, 2017
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13Yihan Zhang, Haigen Huang, Gexin Zhao, et al.
Molecular Cancer Research : MCR|August 6, 2013
TDP1 and PARP1 deficiency are cytotoxic to rhabdomyosarcoma cellsHok Khim Fam, Cheryl Walton, Sheetal A Mitra, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implicationsCourtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, et al.
Annals of Neurology|February 9, 2002
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlationCornelius F Boerkoel, Hiroshi Takashima, Carlos A Garcia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLauren Lawrence, Murat Sincan, Thomas Markello, et al.
European Journal of Human Genetics : EJHG|December 8, 2011
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegenerationTyler Mark Pierson, Dimitre R Simeonov, Murat Sincan, et al.
The EMBO Journal|October 20, 2007
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?Ryuki Hirano, Heidrun Interthal, Cheng Huang, et al.
Clinical Chemistry|October 3, 2015
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase DeficienciesWenyue Zhang, Philip M James, Bobby G Ng, et al.
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