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12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.

artículo científico publicado en 2003

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 clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

artículo científico publicado en 2017

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 microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation

artículo científico publicado en 2012

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 new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

artículo científico publicado en 2006

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

artículo científico publicado en 2006

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

scientific article published on 03 November 2011

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

artículo científico publicado en 2004

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

artículo científico publicado en 2015

A systematic review and standardized clinical validity assessment of male infertility genes

article

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

artículo científico publicado en 2016

Accurate distinction of pathogenic from benign CNVs in mental retardation

artículo científico publicado en 2010

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2

artículo científico publicado en 2012

An integrated framework of personalized medicine: from individual genomes to participatory health care

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Anomalies of the CD8+ T cell pool in haemochromatosis: HLA-A3-linked expansions of CD8+CD28- T cells

scientific article published on 01 March 1997

Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors.

artículo científico publicado en 2003

Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer.

artículo científico publicado en 2002

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

artículo científico publicado en 2003

Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults

artículo científico publicado en 2011

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

artículo científico publicado en 2017

Breast cancer size estimation with MRI in BRCA mutation carriers and other high risk patients.

artículo científico publicado en 2013

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

artículo científico publicado en 2007

Cantú syndrome is caused by mutations in ABCC9.

artículo científico publicado en 2012

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination

artículo científico publicado en 2015

Challenges for implementing next-generation sequencing-based genome diagnostics: it's also the people, not just the machines.

artículo científico publicado en 2013

Characterization of a recurrent 15q24 microdeletion syndrome.

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

artículo científico publicado en 2003

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

artículo científico publicado en 2005

Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization

scientific article published on 01 December 2004

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

artículo científico publicado en 2011

Claes Lundsteen—in Memoriam

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

artículo científico publicado en 2008

Clinical exome sequencing in daily practice: 1,000 patients and beyond

artículo científico publicado en 2014

Common variants in DGKK are strongly associated with risk of hypospadias

scientific journal article

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

artículo científico

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

artículo científico publicado en 2007

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

artículo científico publicado en 2011

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry

artículo científico publicado en 2017

Cortical abnormalities in adults and adolescents with major depression based on brain scans from 20 cohorts worldwide in the ENIGMA Major Depressive Disorder Working Group

artículo científico publicado en 2016

Cortical abnormalities in bipolar disorder: an MRI analysis of 6503 individuals from the ENIGMA Bipolar Disorder Working Group

artículo científico publicado en 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

artículo científico publicado en 2017

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

artículo científico publicado en 2011

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 beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

artículo científico publicado en 2014

De novo mutations in children born after medical assisted reproduction

artículo científico publicado en 2022

De novo mutations in human genetic disease

artículo científico publicado en 2012

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

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

artículo científico publicado en 2003

Detection of chromosomal aberrations in cytologic brush specimens from head and neck squamous cell carcinoma ⬇️

artículo científico publicado el 25 de octubre de 1997

Detection of clinically relevant copy number variants with whole-exome sequencing

artículo científico publicado en 2013

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

Diagnostic genome profiling in mental retardation

artículo científico publicado en 2005

Diagnostic genome profiling: unbiased whole genome or targeted analysis?

artículo científico publicado en 2006

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Disease gene discovery in male infertility: past, present and future

scientific article published on 07 July 2020

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

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

artículo científico publicado en 2011

Disruption of the neurexin 1 gene is associated with schizophrenia

artículo científico publicado en 2009

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

artículo científico publicado en 2010

Double-target fluorescence in situ hybridization distinguishes multiple genetically aberrant clones in head and neck squamous cell carcinoma

artículo científico publicado en 1998

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

artículo científico publicado en 2017

Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs

artículo científico publicado en 2015

Exome sequencing and whole genome sequencing for the detection of copy number variation

artículo científico

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

artículo científico publicado en 2016

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

artículo científico publicado en 2009

From genes to genomes in the clinic

artículo científico publicado en 2015

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

artículo científico publicado en 2010

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

artículo científico publicado en 2013

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

Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals

artículo científico publicado en 2010

Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield

artículo científico publicado en 2012

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines

artículo científico publicado en 2004

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

artículo científico publicado en 2007

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

artículo científico publicado en 2010

Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene

artículo científico publicado en 2006

Genomic copy number analysis in mental retardation: finding the needles in the haystack.

artículo científico publicado en 2006

Genomic microarrays in clinical diagnosis

artículo científico publicado en 2006

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

scientific article published on March 2009

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

artículo científico publicado en 2009

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

artículo científico publicado en 2014

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

artículo científico publicado en 2011

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

artículo científico

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

artículo científico publicado en 2004

High-resolution genomic microarrays for X-linked mental retardation.

artículo científico publicado en 2007

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

artículo científico publicado en 2002

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

artículo científico publicado en 2006

Homozygosity mapping in outbred families with mental retardation

artículo científico publicado en 2011

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

artículo científico publicado en 2010

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

artículo científico publicado en 2014

Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.

artículo científico publicado en 2003

Identification of common variants associated with human hippocampal and intracranial volumes

artículo científico publicado en 2012

Identification of disease genes by whole genome CGH arrays

artículo científico publicado en 2005

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization

artículo científico

Identification of tumor-specific molecular signatures in intracranial ependymoma and association with clinical characteristics.

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Influence of paternal age on ongoing pregnancy rate at eight weeks' gestation in assisted reproduction

artículo científico publicado en 2015

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

artículo científico publicado en 2006

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

artículo científico publicado en 2011

Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing

artículo científico publicado en 2016

LRP5 variants may contribute to ADPKD

artículo científico publicado en 2015

Loss of a small region around the PTEN locus is a major chromosome 10 alteration in prostate cancer xenografts and cell lines

artículo científico publicado en 2004

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

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

artículo científico publicado en 2008

Mapping of resection margins of oral cancer for p53 overexpression and chromosome instability to detect residual (pre)malignant cells

scientific article published on 01 January 2001

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

Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications

artículo científico publicado en 2005

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

Mobster: accurate detection of mobile element insertions in next generation sequencing data

artículo científico publicado en 2014

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

artículo científico publicado en 2005

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

artículo científico publicado en 2009

Molecular parameters associated with insulinoma progression: chromosomal instability versus p53 and CK19 status

scientific article published on 01 January 2006

Multiple phenotypes in phosphoglucomutase 1 deficiency

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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 DYNC1H1 cause severe intellectual disability with neuronal migration defects.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

artículo científico publicado en 2007

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

artículo científico publicado en 2010

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

scientific article published on 19 August 2013

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

artículo científico publicado en 2012

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

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

artículo científico publicado en 2015

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Novel bioinformatic developments for exome sequencing

artículo científico publicado en 2016

Novel candidate tumour suppressor gene loci on chromosomes 11q23-24 and 22q13 involved in human insulinoma tumourigenesis

scientific article published on 01 December 2006

Nuclear receptors Nur77 and Nurr1 modulate mesenchymal stromal cell migration

artículo científico publicado en 2011

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

artículo científico publicado en 2007

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

artículo científico publicado en 2016

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

artículo científico publicado en 2014

Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

artículo científico publicado en 2018

Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

artículo científico publicado en 2014

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

artículo científico publicado en 2014

Point mutations as a source of de novo genetic disease.

artículo científico

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

artículo científico publicado en 2015

Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.).

artículo científico publicado en 2011

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 CNVs disrupt three candidate genes in schizophrenia patients

artículo científico publicado en 2008

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

artículo científico publicado en 2012

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype

artículo científico publicado en 2010

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Reduced purifying selection prevails over positive selection in human copy number variant evolution

artículo científico publicado en 2008

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

artículo científico publicado en 2012

Response to Dr Fried & Dr Kievit, and Dr Malhi et al

artículo científico publicado en 2016

Role of gain of 12p in germ cell tumour development

artículo científico publicado en 2003

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

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

scientific article published on 13 August 2018

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

artículo científico publicado en 2017

Standardized phenotyping enhances Mendelian disease gene identification

artículo científico publicado en 2015

Structural genomic variation in intellectual disability

artículo científico publicado en 2012

Subcortical brain alterations in major depressive disorder: findings from the ENIGMA Major Depressive Disorder working group

artículo científico publicado en 2015

Subcortical brain structure and suicidal behaviour in major depressive disorder: a meta-analysis from the ENIGMA-MDD working group

artículo científico publicado en 2017

Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium

artículo científico publicado en 2016

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

scientific journal article

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 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

artículo científico publicado en 2009

The CASPR2 cell adhesion molecule functions as a tumor suppressor gene in glioma.

artículo científico publicado en 2010

The diagnostic pathway in complex paediatric neurology: a cost analysis

artículo científico publicado en 2014

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

artículo científico

The role of de novo mutations in adult-onset neurodegenerative disorders.

artículo científico publicado en 2018

Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix

artículo científico publicado en 2009

Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

artículo científico publicado en 2016

Understanding variable expressivity in microdeletion syndromes.

artículo científico publicado en 2010

Unlocking Mendelian disease using exome sequencing

artículo científico

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

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

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

artículo científico publicado en 2012

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics

artículo científico publicado en 2007

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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