Peining Li

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

Catherine A. Brownstein, F.T. Adler, Carol Nelson‐Williams et al. · Proceedings of the National Academy of Sciences · 2008 · 239 citations · Full text

Parathyroid Disease, Pathology, α-Klotho Level Results +19

The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans

Michael P. Donnelly, Peristera Paschou, Elena L. Grigorenko et al. · The American Journal of Human Genetics · 2010 · 82 citations · Full text

Allelic Variant, Genetic Disorder, Genetics +8

Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay

Bixia Xiang, Ao Li, Valentin Dinu et al. · American Journal of Medical Genetics Part A · 2008 · 69 citations · Full text

Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation

Bixia Xiang, Hongbo Zhu, Yiping Shen et al. · Journal of Molecular Diagnostics · 2010 · 64 citations · Full text

Psychiatry, Genetic Disorder, Medicine +8