Yaping Yang

Overview

Best Publications

• Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

  Yaping Yang;Donna M. Muzny;Jeffrey G. Reid;Matthew N. Bainbridge

  2146
  Citations

• Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

  Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu

  1460
  Citations

• Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

  Jennifer E. Posey;Tamar Harel;Pengfei Liu;Jill A. Rosenfeld

  660
  Citations

• Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

  Laura M. Amendola;Gail P. Jarvik;Michael C. Leo;Heather M. McLaughlin

  579
  Citations

• Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

  D. Williams Parsons;Angshumoy Roy;Yaping Yang;Tao Wang

  454
  Citations

• Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

  Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas

  396
  Citations

• Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

  Christian P Schaaf;Manuel L Gonzalez-Garay;Fan Xia;Lorraine Potocki

  313
  Citations

• Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

  Martin H. Berryer;Fadi F. Hamdan;Laura L. Klitten;Rikke S. Møller

  298
  Citations

• Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

  Asbjørg Stray-Pedersen;Hanne Sørmo Sorte;Pubudu Samarakoon;Tomasz Gambin;Tomasz Gambin

  288
  Citations

• Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

  Natalia Gomez-Ospina;Carol J. Potter;Rui Xiao;Kandamurugu Manickam

  287
  Citations

• Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

  Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  268
  Citations

• Reanalysis of Clinical Exome Sequencing Data

  Pengfei Liu;Linyan Meng;Elizabeth A. Normand;Fan Xia

  245
  Citations

• Mutations in SLC25A46 , encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

  Alexander J Abrams;Robert B Hufnagel;Adriana Rebelo;Claudia Zanna

  222
  Citations

• Molecular diagnostic experience of whole-exome sequencing in adult patients

  Jennifer E. Posey;Jill A. Rosenfeld;Regis A. James;Matthew Bainbridge

  218
  Citations

• Lessons learned from additional research analyses of unsolved clinical exome cases

  Mohammad K. Eldomery;Mohammad K. Eldomery;Zeynep Coban-Akdemir;Tamar Harel;Jill A. Rosenfeld

  217
  Citations

• De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

  Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  190
  Citations

• De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

  Matthew N Bainbridge;Hao Hu;Donna M Muzny;Luciana Musante

  175
  Citations

• Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

  Tamar Harel;Wan Hee Yoon;Caterina Garone;Shen Gu

  174
  Citations

• Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

  James R Lupski;Claudia Gonzaga-Jauregui;Yaping Yang;Matthew N Bainbridge

  162
  Citations

• Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

  Raphael Carapito;Martina Konantz;Catherine Paillard;Zhichao Miao

  156
  Citations