Lista de obras - Christian Gilissen - Dominio Público Uruguay

1 in 38 individuals at risk of a dominant medically actionable disease

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

artículo científico publicado en 2013

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

artículo científico publicado en 2013

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

artículo científico publicado en 2012

A de novo paradigm for male infertility

artículo científico publicado en 2022

A de novo paradigm for mental retardation.

artículo científico publicado en 2010

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

artículo científico publicado en 2017

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

artículo científico publicado en 2015

A missense mutation underlies defective SOCS4 function in a family with autoimmunity.

artículo científico publicado en 2015

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

artículo científico publicado en 2012

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

artículo científico publicado en 2015

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis

scientific article published on 01 June 2019

APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations

artículo científico publicado en 2013

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

scientific article published on 26 November 2019

Accurate distinction of pathogenic from benign CNVs in mental retardation

artículo científico publicado en 2010

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics

artículo científico publicado en 2017

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

artículo científico publicado en 2014

Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells.

artículo científico publicado en 2011

Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients

artículo científico publicado en 2016

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

scientific article published on 30 January 2020

BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia

artículo científico publicado en 2010

Cantú syndrome is caused by mutations in ABCC9.

artículo científico publicado en 2012

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

artículo científico publicado en 2020

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

artículo científico publicado en 2011

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

artículo científico publicado en 2011

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

artículo científico publicado en 2016

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

artículo científico

Cord blood mesenchymal stem cells suppress DC-T Cell proliferation via prostaglandin B2.

artículo científico publicado en 2014

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

artículo científico publicado en 2016

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

artículo científico publicado en 2016

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

artículo científico publicado en 2016

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

artículo científico publicado en 2018

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

artículo científico publicado en 2015

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

artículo científico publicado en 2012

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

artículo científico publicado en 2010

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

artículo científico publicado en 2019

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

artículo científico publicado en 2016

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

Different Balance of Wnt Signaling in Adult and Fetal Bone Marrow-Derived Mesenchymal Stromal Cells

artículo científico publicado en 2016

Disease gene identification strategies for exome sequencing

artículo científico publicado en 2012

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

artículo científico publicado en 2012

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

artículo científico publicado en 2016

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

artículo científico publicado en 2010

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

artículo científico publicado en 2016

Error probabilities for local extrema in gene expression data

article

Evidence for 28 genetic disorders discovered by combining healthcare and research data

artículo científico publicado en 2020

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

artículo científico publicado en 2013

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

artículo científico publicado en 2010

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

artículo científico publicado en 2014

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

artículo científico publicado en 2014

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

artículo científico publicado en 2011

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment

artículo científico publicado en 2015

Exome sequencing in patients with chronic central serous chorioretinopathy

scientific article published on 29 April 2019

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

artículo científico publicado en 2016

Functional differences between mesenchymal stem cell populations are reflected by their transcriptome.

artículo científico publicado en 2010

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

artículo científico publicado en 2012

Genetic studies in intellectual disability and related disorders

artículo científico publicado en 2015

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.

artículo científico publicado en 2018

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

artículo científico publicado en 2016

High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9-positive patients

artículo científico publicado en 2011

High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs

artículo científico

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

artículo científico publicado en 2013

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

scientific journal article

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

artículo científico publicado en 2016

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

artículo científico publicado en 2016

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy

artículo científico publicado en 2016

Improved exome prioritization of disease genes through cross-species phenotype comparison

artículo científico publicado en 2014

LRP5 variants may contribute to ADPKD

artículo científico publicado en 2015

Long-read trio sequencing of individuals with unsolved intellectual disability

scientific article published on 30 November 2020

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

artículo científico publicado en 2013

MST1R mutation as a genetic cause of Lady Windermere syndrome

artículo científico publicado en 2017

Massively parallel sequencing of ataxia genes after array-based enrichment

artículo científico publicado en 2010

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

artículo científico publicado en 2016

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

scholarly article

MicroRNA hsa-miR-135b regulates mineralization in osteogenic differentiation of human unrestricted somatic stem cells

artículo científico publicado en 2010

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

artículo científico publicado en 2015

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

scientific article published on 01 February 2019

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

artículo científico publicado en 2013

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

artículo científico publicado en 2012

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

artículo científico publicado en 2012

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

artículo científico publicado en 2017

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

artículo científico publicado en 2012

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

artículo científico publicado en 2012

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

artículo científico publicado en 2012

NGS Datenanalyse und Qualitätskontrolle

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

artículo científico publicado en 2014

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

artículo científico publicado en 2012

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

artículo científico publicado en 2010

Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

artículo científico publicado en 2013

Novel bioinformatic developments for exome sequencing

artículo científico publicado en 2016

Novel genetic causes for cerebral visual impairment

artículo científico publicado en 2015

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

artículo científico publicado en 2016

Nuclear receptors Nur77 and Nurr1 modulate mesenchymal stromal cell migration

artículo científico publicado en 2011

Osteo-transcriptomics of human mesenchymal stem cells: accelerated gene expression and osteoblast differentiation induced by vitamin D reveals c-MYC as an enhancer of BMP2-induced osteogenesis

artículo científico

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

artículo científico publicado en 2021

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

artículo científico publicado en 2017

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

scientific article published on 10 July 2020

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

artículo científico publicado en 2016

Parent-of-origin-specific signatures of de novo mutations

artículo científico publicado en 2016

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

artículo científico publicado en 2017

Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease.

artículo científico publicado en 2017

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

artículo científico publicado en 2009

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

artículo científico publicado en 2012

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

artículo científico publicado en 2013

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

artículo científico publicado en 2021

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

artículo científico publicado en 2015

Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.

artículo científico publicado en 2012

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

artículo científico publicado en 2016

The effect of enamel matrix derivative (Emdogain®) on gene expression profiles of human primary alveolar bone cells

artículo científico

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

artículo científico publicado en 2015

Unlocking Mendelian disease using exome sequencing

artículo científico

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

artículo científico publicado en 2017

Use of animal models for exome prioritization of rare disease genes

article

Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis

artículo científico publicado en 2012

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

artículo científico publicado en 2017

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

artículo científico publicado en 2014

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

artículo científico publicado en 2013

Lista de obras de Christian Gilissen

1 in 38 individuals at risk of a dominant medically actionable disease

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

A de novo paradigm for male infertility

A de novo paradigm for mental retardation.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

A missense mutation underlies defective SOCS4 function in a family with autoimmunity.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis

APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

Accurate distinction of pathogenic from benign CNVs in mental retardation

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells.

Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia

Cantú syndrome is caused by mutations in ABCC9.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

Cord blood mesenchymal stem cells suppress DC-T Cell proliferation via prostaglandin B2.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

Different Balance of Wnt Signaling in Adult and Fetal Bone Marrow-Derived Mesenchymal Stromal Cells

Disease gene identification strategies for exome sequencing

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

Error probabilities for local extrema in gene expression data

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment

Exome sequencing in patients with chronic central serous chorioretinopathy

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Functional differences between mesenchymal stem cell populations are reflected by their transcriptome.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Genetic studies in intellectual disability and related disorders

Genome sequencing identifies major causes of severe intellectual disability

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9-positive patients

High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy

Improved exome prioritization of disease genes through cross-species phenotype comparison

LRP5 variants may contribute to ADPKD

Long-read trio sequencing of individuals with unsolved intellectual disability

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

MST1R mutation as a genetic cause of Lady Windermere syndrome

Massively parallel sequencing of ataxia genes after array-based enrichment

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

MicroRNA hsa-miR-135b regulates mineralization in osteogenic differentiation of human unrestricted somatic stem cells