Lista de obras -

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

artículo científico publicado en 2013

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

artículo científico publicado en 2013

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 molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

artículo científico publicado en 2017

A novel marine nitrite-oxidizing Nitrospira species from Dutch coastal North Sea water

artículo científico publicado en 2013

A phenotype map for 14q32.3 terminal deletions.

artículo científico publicado en 2012

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

artículo científico publicado en 2016

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

artículo científico publicado en 2017

An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation

artículo científico publicado en 2010

Angiocentric glioma: report of clinico-pathologic and genetic findings in 8 cases

artículo científico publicado en 2007

Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.

artículo científico publicado en 2009

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

artículo científico publicado en 2015

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

artículo científico publicado en 2012

BRCA Testing by Single-Molecule Molecular Inversion Probes

artículo científico publicado en 2016

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

scientific journal article

Cantú syndrome is caused by mutations in ABCC9.

artículo científico publicado en 2012

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

artículo científico publicado en 2014

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

artículo científico publicado en 2013

Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH.

artículo científico publicado en 2008

Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

artículo científico publicado en 2015

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

artículo científico publicado en 2015

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

artículo científico publicado en 2016

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

artículo científico publicado en 2016

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

artículo científico publicado en 2017

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 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

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

artículo científico publicado en 2015

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

Disease gene identification strategies for exome sequencing

artículo científico publicado en 2012

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

artículo científico publicado en 2016

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

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 putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

artículo científico publicado en 2013

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 routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

artículo científico publicado en 2019

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

artículo científico publicado en 2017

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ⬇️

artículo científico publicado el 10 de enero de 2011

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

artículo científico publicado en 2013

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations

artículo científico publicado en 2002

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization

artículo científico publicado en 2007

Human TLR10 is an anti-inflammatory pattern-recognition receptor

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

artículo científico publicado en 2021

Insufficient evidence for a role of SERPINF1 in otosclerosis

artículo científico publicado en 2019

KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas

artículo científico publicado en 2012

LRP5 variants may contribute to ADPKD

artículo científico publicado en 2015

Long-Read Sequencing Emerging in Medical Genetics

article

Long-read trio sequencing of individuals with unsolved intellectual disability

scientific article published on 30 November 2020

MST1R mutation as a genetic cause of Lady Windermere syndrome

artículo científico publicado en 2017

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.

artículo científico publicado en 2010

Massively parallel sequencing of ataxia genes after array-based enrichment

artículo científico publicado en 2010

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

artículo científico publicado en 2014

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

artículo científico publicado en 2016

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

scientific journal article

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

artículo científico publicado en 2013

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

scientific article published on 19 August 2013

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

artículo científico publicado en 2014

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

artículo científico publicado en 2017

New insights into the generation and role of de novo mutations in health and disease

artículo científico publicado en 2016

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives

artículo científico publicado en 2021

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

artículo científico publicado en 2017

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

Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

P45: Comprehensive genomic analysis of desmoplastic medulloblastomas reveals novel amplified genes and supports a monoclonal origin of the different histologic components

article

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

artículo científico publicado en 2016

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

artículo científico publicado en 2015

Primary immunodeficiencies in cytosolic pattern-recognition receptor pathways: Toward host-directed treatment strategies

artículo científico publicado en 2020

Prioritization of neurodevelopmental disease genes by discovery of new mutations

artículo científico publicado en 2014

Progressive multifocal leukoencephalopathy in an immunocompetent patient

artículo científico publicado en 2016

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA.

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 Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

artículo científico publicado en 2015

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

artículo científico publicado en 2016

Rosetted glioneuronal tumor of the spine with overtly anaplastic histological features.

artículo científico publicado en 2009

STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis

artículo científico publicado en 2011

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

artículo científico publicado en 2007

Shotgun metagenomic data reveals significant abundance but low diversity of "Candidatus Scalindua" marine anammox bacteria in the Arabian Sea oxygen minimum zone

artículo científico publicado en 2014

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

artículo científico publicado en 2015

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

artículo científico publicado en 2010

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

artículo científico publicado en 2006

Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

artículo científico

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

artículo científico publicado en 2017

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

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

artículo científico publicado en 2017

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

artículo científico publicado en 2017

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

artículo científico publicado en 2016

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

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

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 molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

A novel marine nitrite-oxidizing Nitrospira species from Dutch coastal North Sea water

A phenotype map for 14q32.3 terminal deletions.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation

Angiocentric glioma: report of clinico-pathologic and genetic findings in 8 cases

Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

BRCA Testing by Single-Molecule Molecular Inversion Probes

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Cantú syndrome is caused by mutations in ABCC9.

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

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

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH.

Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

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

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

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

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

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

Disease gene identification strategies for exome sequencing

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

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 putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

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 routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ⬇️

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

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

Genome sequencing identifies major causes of severe intellectual disability

Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization

Human TLR10 is an anti-inflammatory pattern-recognition receptor

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

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

Insufficient evidence for a role of SERPINF1 in otosclerosis

KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas

LRP5 variants may contribute to ADPKD

Long-Read Sequencing Emerging in Medical Genetics

Long-read trio sequencing of individuals with unsolved intellectual disability

MST1R mutation as a genetic cause of Lady Windermere syndrome

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.

Massively parallel sequencing of ataxia genes after array-based enrichment

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

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

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Mutations in MED12 cause X-linked Ohdo syndrome

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

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

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

New insights into the generation and role of de novo mutations in health and disease

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

Next-generation genetic testing for retinitis pigmentosa