V. Reid Sutton

Overview

Best Publications

• The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

  Jessica X. Chong;Kati J. Buckingham;Shalini N. Jhangiani;Corinne Boehm

  710
  Citations

• Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

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

  660
  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

• Asprosin is a centrally acting orexigenic hormone.

  Clemens Duerrschmid;Yanlin He;Chunmei Wang;Chia Li

  345
  Citations

• Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

  Marjorie J Lindhurst;Victoria E R Parker;Felicity Payne;Julie C Sapp

  318
  Citations

• Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

  Stuart K. Shapira;Christopher McCaskill;Hope Northrup;Aimee S. Spikes

  306
  Citations

• Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

  Kim M Keppler-Noreuil;Julie C Sapp;Marjorie J Lindhurst;Victoria Er Parker

  298
  Citations

• Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

  Xiaoling Wang;V Reid Sutton;J Omar Peraza-Llanes;Zhiyin Yu

  297
  Citations

• 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

  Shay Ben-Shachar;Zhishuo Ou;Chad A. Shaw;John W. Belmont

  246
  Citations

• Reanalysis of Clinical Exome Sequencing Data

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

  245
  Citations

• Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

  Sau W. Cheung;Chad A. Shaw;Daryl A. Scott;Ankita Patel

  239
  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

• Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

  Marcus J. Miller;Adam D. Kennedy;Andrea D. Eckhart;Lindsay C. Burrage

  215
  Citations

• Insights into genetics, human biology and disease gleaned from family based genomic studies.

  Jennifer E. Posey;Anne H. O’Donnell-Luria;Anne H. O’Donnell-Luria;Anne H. O’Donnell-Luria;Jessica X. Chong;Tamar Harel

  177
  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

• Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

  Bo Yuan;Davut Pehlivan;Ender Karaca;Nisha Patel

  171
  Citations

• Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

  Ulrike Schwarze;Tim Cundy;Shawna M. Pyott;Helena E. Christiansen

  164
  Citations

• State of the art review in gonadal dysgenesis: challenges in diagnosis and management

  Bonnie McCann-Crosby;Roshanak Mansouri;Jennifer E Dietrich;Laurence B McCullough

  162
  Citations

• Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

  Sandesh Chakravarthy Sreenath Nagamani;Ayelet Erez;Joseph Shen;Chumei Li

  158
  Citations