Tomasz Gambin

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

• A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

  Shinya Yamamoto;Manish Jaiswal;Wu Lin Charng;Tomasz Gambin

  402
  Citations

• COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

  Levi B. Watkin;Birthe Jessen;Wojciech Wiszniewski;Timothy J. Vece

  394
  Citations

• Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

  Ender Karaca;Tamar Harel;Davut Pehlivan;Shalini N. Jhangiani

  300
  Citations

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

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

  288
  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

• Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

  Claudia Gonzaga-Jauregui;Claudia Gonzaga-Jauregui;Tamar Harel;Tomasz Gambin;Maria Kousi

  254
  Citations

• Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function

  Ender Karaca;Stefan Weitzer;Davut Pehlivan;Hiroshi Shiraishi

  219
  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

• PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

  Asbjørg Stray-Pedersen;Paul H. Backe;Paul H. Backe;Hanne S. Sorte;Lars Mørkrid;Lars Mørkrid

  186
  Citations

• Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

  Zeynep Coban-Akdemir;Janson J. White;Xiaofei Song;Shalini N. Jhangiani

  185
  Citations

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

  Bo Yuan;Davut Pehlivan;Ender Karaca;Nisha Patel

  171
  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

• Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

  Joanna Wiszniewska;Weimin Bi;Chad Shaw;Pawel Stankiewicz

  149
  Citations

• Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  Michael F. Wangler;Claudia Gonzaga-Jauregui;Tomasz Gambin;Tomasz Gambin;Samantha Penney

  136
  Citations

• DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

  Janson White;Juliana F. Mazzeu;Alexander Hoischen;Shalini N. Jhangiani

  135
  Citations

• Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

  Patricia B.S. Celestino-Soper;Chad A. Shaw;Stephan J. Sanders;Jian Li

  131
  Citations

• Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

  Seema R. Lalani;Pengfei Liu;Pengfei Liu;Jill A. Rosenfeld;Levi B. Watkin;Levi B. Watkin

  128
  Citations

• Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

  Tomasz Gambin;Tomasz Gambin;Zeynep C. Akdemir;Bo Yuan;Shen Gu

  126
  Citations