about
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesA drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesRecurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsNew mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophyHomozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns.Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screenPGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsUse of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHEWhole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasiaGenomic hypomethylation in the human germline associates with selective structural mutability in the human genome.New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.Detection of clinically relevant exonic copy-number changes by array CGH.Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlationDVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteHomozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.Secondary findings and carrier test frequencies in a large multiethnic sample.COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisWhole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyExome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rateHutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
P50
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P50
description
Polish bioinformatician
@en
onderzoeker
@nl
polski bioinformatyk
@pl
հետազոտող
@hy
name
Tomasz Gambin
@ast
Tomasz Gambin
@en
Tomasz Gambin
@es
Tomasz Gambin
@fr
Tomasz Gambin
@nl
Tomasz Gambin
@pl
Tomasz Gambin
@sl
type
label
Tomasz Gambin
@ast
Tomasz Gambin
@en
Tomasz Gambin
@es
Tomasz Gambin
@fr
Tomasz Gambin
@nl
Tomasz Gambin
@pl
Tomasz Gambin
@sl
altLabel
Tomasz Lech Gambin
@pl
prefLabel
Tomasz Gambin
@ast
Tomasz Gambin
@en
Tomasz Gambin
@es
Tomasz Gambin
@fr
Tomasz Gambin
@nl
Tomasz Gambin
@pl
Tomasz Gambin
@sl
P1153
23484771100
P21
P214
435144782721167104520
P2456
P31
P3124
P496
0000-0002-0941-4571
P734
P7859
viaf-435144782721167104520