Tomasz Gambin
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Verified email at ii.pw.edu.pl - Homepage
Title
Cited by
Cited by
Year
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ...
The American Journal of Human Genetics 97 (2), 199-215, 2015
5112015
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ...
Cell 159 (1), 200-214, 2014
2682014
Detection of clinically relevant exonic copy‐number changes by array CGH
PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ...
Human mutation 31 (12), 1326-1342, 2010
2442010
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
LB Watkin, B Jessen, W Wiszniewski, TJ Vece, M Jan, Y Sha, M Thamsen, ...
Nature genetics 47 (6), 654-660, 2015
1822015
Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy
C Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, ...
Cell reports 12 (7), 1169-1183, 2015
1702015
Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease
E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ...
Neuron 88 (3), 499-513, 2015
1662015
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function
E Karaca, S Weitzer, D Pehlivan, H Shiraishi, T Gogakos, T Hanada, ...
Cell 157 (3), 636-650, 2014
160*2014
Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...
Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017
1592017
Molecular diagnostic experience of whole-exome sequencing in adult patients
JE Posey, JA Rosenfeld, RA James, M Bainbridge, Z Niu, X Wang, S Dhar, ...
Genetics in Medicine 18 (7), 678-685, 2016
1492016
Lessons learned from additional research analyses of unsolved clinical exome cases
MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ...
Genome medicine 9 (1), 1-15, 2017
1312017
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
P Dittwald, T Gambin, P Szafranski, J Li, S Amato, MY Divon, LXR Rojas, ...
Genome research 23 (9), 1395-1409, 2013
1242013
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
A Stray-Pedersen, PH Backe, HS Sorte, L Mørkrid, NY Chokshi, ...
The American Journal of Human Genetics 95 (1), 96-107, 2014
1212014
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
J Wiszniewska, W Bi, C Shaw, P Stankiewicz, SHL Kang, AN Pursley, ...
European Journal of Human Genetics 22 (1), 79-87, 2014
1212014
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ...
The Journal of clinical investigation 125 (2), 636-651, 2015
1182015
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
PBS Celestino-Soper, CA Shaw, SJ Sanders, J Li, MT Murtha, ...
Human molecular genetics 20 (22), 4360-4370, 2011
1032011
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
MF Wangler, C Gonzaga-Jauregui, T Gambin, S Penney, T Moss, ...
PLoS Genet 10 (3), e1004258, 2014
952014
Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome
J Li, RA Harris, SW Cheung, C Coarfa, M Jeong, MA Goodell, LD White, ...
PLoS Genet 8 (5), e1002692, 2012
942012
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
J White, JF Mazzeu, A Hoischen, SN Jhangiani, T Gambin, MC Alcino, ...
The American Journal of Human Genetics 96 (4), 612-622, 2015
922015
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ...
Nucleic acids research 45 (4), 1633-1648, 2017
772017
Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles
Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ...
The American Journal of Human Genetics 103 (2), 171-187, 2018
762018
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