Lista de obras - Tomasz Gambin - Dominio Público Uruguay

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

artículo científico publicado en 2018

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

artículo científico publicado en 2019

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

artículo científico publicado en 2019

A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report

artículo científico publicado en 2020

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

scientific journal article

A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns

artículo científico publicado en 2009

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

artículo científico publicado en 2016

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

scientific article published on 14 April 2020

Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation

artículo científico publicado en 2014

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Benchmarking distributed data warehouse solutions for storing genomic variant information

artículo científico publicado en 2017

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

Biallelic variants in KIF14 cause intellectual disability with microcephaly

artículo científico publicado en 2018

CAV3 mutation in a patient with transient hyperCKemia and myalgia

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Classification based on the highest impact jumping emerging patterns

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

artículo científico publicado en 2019

Cloud-native distributed genomic pileup operations

artículo científico publicado en 2022

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance

scientific article published on 28 May 2019

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

artículo científico publicado en 2019

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

artículo científico publicado en 2018

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

artículo científico publicado en 2013

DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease

scientific article published on 07 February 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

scientific article published on 01 April 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Efficient Multiple Samples aCGH Analysis for Rare CNVs Detection

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Evidence against ZNF469 being causative for keratoconus in Polish patients

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

FBN1 contributing to familial congenital diaphragmatic hernia.

artículo científico publicado en 2015

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene

article

Functional performance of aCGH design for clinical cytogenetics ⬇️

artículo científico publicado el 16 de marzo de 2013

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

artículo científico publicado en 2015

Genetic architecture of laterality defects revealed by whole exome sequencing

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

artículo científico publicado en 2015

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

article

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

scientific article published on 28 July 2020

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

artículo científico publicado en 2012

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

artículo científico publicado en 2017

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients

artículo científico publicado en 2021

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

artículo científico publicado en 2020

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

artículo científico publicado en 2016

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

artículo científico publicado en 2014

Molecular diagnostic experience of whole-exome sequencing in adult patients

artículo científico publicado en 2015

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

artículo científico publicado en 2016

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

artículo científico publicado en 2015

Multiple samples aCGH analysis for rare CNVs detection

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

artículo científico publicado en 2016

Phenotype expansion and development in Kosaki Overgrowth Syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

scientific journal article

Rule-Based Algorithm Transforming OWL Ontology Into Relational Database

SeQuiLa-cov: A fast and scalable library for depth of coverage calculations

artículo científico publicado en 2019

SeQuiLa: an elastic, fast and scalable SQL-oriented solution for processing and querying genomic intervals

scientific article published on 01 June 2019

Secondary findings and carrier test frequencies in a large multiethnic sample

artículo científico publicado en 2015

Social cognition, psychopathological symptoms, and family functioning in a sample of inpatient adolescents using variable-centered and person-centered approaches

artículo científico publicado en 2015

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

artículo científico publicado en 2014

TIRfinder: A Web Tool for Mining Class II Transposons Carrying Terminal Inverted Repeats.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia

artículo científico publicado en 2018

The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies

artículo científico publicado en 2022

Two male sibs with severe micrognathia and a missense variant in MED12.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing

artículo científico publicado en 2016

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

artículo científico publicado en 2015

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

article

Whole-Exome Sequencing in Familial Parkinson Disease

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2016

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

artículo científico publicado en 2014

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

Lista de obras de Tomasz Gambin

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report

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

A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

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

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

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

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

Benchmarking distributed data warehouse solutions for storing genomic variant information

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Biallelic variants in KIF14 cause intellectual disability with microcephaly

CAV3 mutation in a patient with transient hyperCKemia and myalgia

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

Classification based on the highest impact jumping emerging patterns

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

Cloud-native distributed genomic pileup operations

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

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

Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance

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

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

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

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease

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

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

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

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

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

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

Efficient Multiple Samples aCGH Analysis for Rare CNVs Detection

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Evidence against ZNF469 being causative for keratoconus in Polish patients

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

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

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

FBN1 contributing to familial congenital diaphragmatic hernia.

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene

Functional performance of aCGH design for clinical cytogenetics ⬇️

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

Genetic architecture of laterality defects revealed by whole exome sequencing

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

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

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

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

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

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

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

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

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

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

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

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

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

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Lessons learned from additional research analyses of unsolved clinical exome cases

Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

Molecular diagnostic experience of whole-exome sequencing in adult patients

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

Multiple samples aCGH analysis for rare CNVs detection

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

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

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

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins