Daryl A. Scott

Overview

Best Publications

• The Pendred syndrome gene encodes a chloride-iodide transport protein.

  Daryl A. Scott;Rong Wang;Trisha M Kreman;Val C. Sheffield

  744
  Citations

• Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

  Marwan Shinawi;Pengfei Liu;Sung Hae L Kang;Joseph Shen

  579
  Citations

• Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

  Glenn E. Green;Daryl A. Scott;Joshua M. McDonald;George G. Woodworth

  500
  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

• Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

  D. A. Scott;M. L. Kraft;R. Carmi;A. Ramesh

  307
  Citations

• Genetic factors in congenital diaphragmatic hernia

  Ashley M. Holder;M. Klaassens;D. Tibboel;A. De Klein

  305
  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

• American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

  Raye L. Alford

  256
  Citations

• Two Frequent Missense Mutations in Pendred Syndrome

  P. van Hauwe;L.A. Everett;P.J. Coucke;D.A. Scott

  244
  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

• Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)

  Daryl A. Scott;Rong Wang;Trisha M. Kreman;Mike Andrews

  218
  Citations

• MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

  Julia Wang;Rami Al-Ouran;Yanhui Hu;Seon-Young Kim

  189
  Citations

• Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

  Margaret J. Wat;Oleg A. Shchelochkov;Ashley M. Holder;Amy M. Breman

  187
  Citations

• The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

  Rachel B. Ramoni;Rachel B. Ramoni;John J. Mulvihill;David R. Adams;Patrick Allard

  160
  Citations

• NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

  Piotr Dittwald;Piotr Dittwald;Tomasz Gambin;Tomasz Gambin;Przemyslaw Szafranski;Jian Li

  153
  Citations

• Connexin mutations and hearing loss

  Daryl A. Scott;Michelle L. Kraft;Edwin M. Stone;Val C. Sheffield

  146
  Citations

• 1p36 deletion syndrome: an update.

  Valerie K Jordan;Hitisha P Zaveri;Daryl A Scott

  141
  Citations

• Phenotypic manifestations of copy number variation in chromosome 16p13.11.

  Sandesh C.Sreenath Nagamani;Ayelet Erez;Patricia Bader;Seema R. Lalani

  123
  Citations

• Clinical geneticists' views of VACTERL/VATER association.

  Benjamin D. Solomon;Kelly A. Bear;Virginia Kimonis;Annelies de Klein

  121
  Citations

• Performance of cochlear implant recipients with GJB2-related deafness.

  Glenn E. Green;Daryl A. Scott;Joshua M. McDonald;Holly F.B. Teagle

  115
  Citations