List of works - Tomasz Gambin

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

scientific article

Detection of clinically relevant exonic copy-number changes by array CGH.

scientific article

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

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

scientific article

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

scientific article

Molecular diagnostic experience of whole-exome sequencing in adult patients

scientific article published on 03 December 2015

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

scientific article published on November 2015

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

scientific article published on 20 April 2015

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

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

scientific article

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

scientific article published on 08 May 2013

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

scientific article published on 22 May 2013

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

scientific article

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

scientific article

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

scientific article

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

scientific article

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

scientific article

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

scientific article

Secondary findings and carrier test frequencies in a large multiethnic sample

scientific article published on 13 June 2015

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

scientific article

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

scientific article

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

scientific article

Inverted low-copy repeats and genome instability--a genome-wide analysis

scientific article published on 11 October 2012

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

scientific journal article

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

scientific article published in February 2017

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

scientific article published on 22 September 2016

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

scientific article published on 11 January 2016

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

scientific article

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

article

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

scientific article

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

scientific article published on 23 July 2012

Whole-Exome Sequencing in Familial Parkinson Disease

scientific article published on 23 November 2015

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

scientific article

Identification of novel candidate disease genes from de novo exonic copy number variants.

scientific article published on 21 September 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

scientific article published on 03 December 2013

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

scientific article

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

scientific article published on 3 October 2012

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

scientific article

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome

scientific article

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

scientific article published on 7 December 2015

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

scientific article

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

scientific article

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Population dynamics of miniature inverted-repeat transposable elements (MITEs) in Medicago truncatula.

scientific article published on 17 June 2009

Diversity and structure of PIF/Harbinger-like elements in the genome of Medicago truncatula

scientific article published on 9 November 2007

Assessment of the role of copy-number variants in 150 patients with congenital heart defects

scientific article published on 01 July 2012

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

scientific article

List of works by Tomasz Gambin

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Detection of clinically relevant exonic copy-number changes by array CGH.

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

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

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

Molecular diagnostic experience of whole-exome sequencing in adult patients

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

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

Lessons learned from additional research analyses of unsolved clinical exome cases

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

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

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

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

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

Secondary findings and carrier test frequencies in a large multiethnic sample

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

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

Inverted low-copy repeats and genome instability--a genome-wide analysis

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

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

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

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Whole-Exome Sequencing in Familial Parkinson Disease

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

Identification of novel candidate disease genes from de novo exonic copy number variants.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Population dynamics of miniature inverted-repeat transposable elements (MITEs) in Medicago truncatula.

Diversity and structure of PIF/Harbinger-like elements in the genome of Medicago truncatula

Assessment of the role of copy-number variants in 150 patients with congenital heart defects

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death