Lorraine Potocki

Overview

Best Publications

• A Systematic Analysis of Human Disease-Associated Gene Sequences In Drosophila melanogaster

  Lawrence T. Reiter;Lorraine Potocki;Sam Chien;Michael Gribskov

  1356
  Citations

• Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

  K.-S. Chen;P. Manian;T. Koeuth;L. Potocki

  464
  Citations

• Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

  Lorraine Potocki;Weimin Bi;Diane Treadwell-Deering;Claudia M. B. Carvalho

  449
  Citations

• Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

  Frank Greenberg;Richard A. Lewis;Lorraine Potocki;Daniel Glaze

  437
  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

• Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

  Lorraine Potocki;Ken Shiung Chen;Sung Sup Park;Doreen E. Osterholm

  392
  Citations

• Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

  A. Jordanova;P. De Jonghe;C. F. Boerkoel;H. Takashima

  352
  Citations

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

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

  313
  Citations

• Detection of clinically relevant exonic copy‐number changes by array CGH

  Philip M. Boone;Carlos A. Bacino;Chad A. Shaw;Patricia A. Eng

  279
  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

• Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

  S. Ben-Shachar;B. Lanpher;J. R. German;M. Qasaymeh

  252
  Citations

• Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

  Lorraine Potocki;Daniel Glaze;Dun Xian Tan;Sung Sup Park

  227
  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

• 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

• 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

• 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

• Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

  Lorraine Potocki;Christine J Shaw;Pawel Stankiewicz;James R Lupski;James R Lupski

  155
  Citations

• Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

  Nikki Liburd;Manju Ghosh;Saima Riazuddin;Sadaf Naz

  153
  Citations

• Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

  Marjolein H. Willemsen;Bridget A. Fernandez;Carlos A. Bacino;Erica Gerkes

  145
  Citations

• Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

  Przemyslaw Szafranski;Christian P. Schaaf;Richard E. Person;Ian B. Gibson

  141
  Citations