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Lista de obras de Han Brunner

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

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

artículo científico publicado en 2020

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 Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 01 October 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

A new web-based data mining tool for the identification of candidate genes for human genetic disorders

artículo científico publicado en 2003

A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

artículo científico publicado en 2008

A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder

scientific article published on 22 December 2010

A text-mining analysis of the human phenome

artículo científico publicado en 2006

AGORA, a data- and biobank for birth defects and childhood cancer.

artículo científico publicado en 2016

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

artículo científico publicado en 1993

Absence of heterozygosity due to template switching during replicative rearrangements

artículo científico publicado en 2015

Accurate distinction of pathogenic from benign CNVs in mental retardation

artículo científico publicado en 2010

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

article

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

artículo científico publicado en 2003

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

artículo científico publicado en 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

artículo científico publicado en 2019

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

artículo científico publicado en 2011

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

artículo científico publicado en 2014

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

artículo científico publicado en 2006

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

artículo científico publicado en 2011

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

artículo científico publicado en 2011

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

artículo científico publicado en 2018

CR1 genotype is associated with entorhinal cortex volume in young healthy adults

artículo científico publicado en 2011

Cantú syndrome is caused by mutations in ABCC9.

artículo científico publicado en 2012

Cardiac Inflammation Impedes Response to Cardiac Resynchronization Therapy in Patients with Idiopathic Dilated Cardiomyopathy

scientific article published on 30 September 2020

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

artículo científico publicado en 2013

Characterization of a recurrent 15q24 microdeletion syndrome.

artículo científico publicado en 2007

Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Chromosomal anomalies in the etiology of anorectal malformations: a review

scientific article published on 11 October 2011

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy

artículo científico publicado en 2018

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

artículo científico publicado en 2013

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

artículo científico publicado en 2016

Clinical significance of de novo and inherited copy-number variation

artículo científico

Common genetic variants influence human subcortical brain structures

artículo científico publicado en 2015

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

artículo científico publicado en 2008

Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.

artículo científico publicado en 2006

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

artículo científico publicado en 2017

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection

Conserved co-expression for candidate disease gene prioritization

artículo científico publicado en 2008

Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in Drosophila

artículo científico publicado en 2020

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

artículo científico publicado en 2020

Current self-reported symptoms of attention deficit/hyperactivity disorder are associated with total brain volume in healthy adults

artículo científico publicado en 2012

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

artículo científico publicado en 2016

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

artículo científico publicado en 2012

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

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes.

artículo científico publicado en 2010

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

artículo científico publicado en 2015

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 Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

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 Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

scientific article published on 11 July 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

artículo científico publicado en 2018

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

artículo científico publicado en 2019

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

artículo científico publicado en 2018

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 human genetic disease

artículo científico publicado en 2012

De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with non-syndromic intellectual disability.

artículo científico publicado en 2018

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 mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

artículo científico publicado en 2012

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

artículo científico publicado en 2013

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

artículo científico publicado en 2010

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

article

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

artículo científico publicado en 2013

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

scientific article published on 07 December 2018

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

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

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

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients

artículo científico publicado en 2020

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

artículo científico publicado en 2017

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

Easy-to-use decision aids for improved cancer family history collection and use among oncology practices

scientific article published on 02 September 2014

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

artículo científico publicado en 2007

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

artículo científico publicado en 2006

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 heritability of different outcomes for genetic studies of TNFi response in patients with rheumatoid arthritis

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

artículo científico publicado en 2010

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

artículo científico publicado en 2002

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

artículo científico publicado en 2017

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

artículo científico publicado en 2008

Feingold syndrome: clinical review and genetic mapping

artículo científico publicado en 2003

Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years

artículo científico publicado en 2010

From syndrome families to functional genomics

artículo científico publicado en 2004

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

artículo científico publicado en 2009

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

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

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

artículo científico publicado en 2002

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

scholarly article published 28 August 2017

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review

artículo científico publicado en 2014

Genetic architecture of subcortical brain structures in 38,851 individuals

scientific article published on 21 October 2019

Genetic players in esophageal atresia and tracheoesophageal fistula

artículo científico publicado en 2005

Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact

artículo científico publicado en 2009

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 sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis

artículo científico publicado en 2012

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 microarrays in mental retardation: a practical workflow for diagnostic applications

scientific article published on March 2009

Genotype-phenotype correlations in MYCN-related Feingold syndrome

artículo científico publicado en 2008

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

artículo científico publicado en 2007

Germline AGO2 mutations impair RNA interference and human neurological development

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Heritability of head size in Dutch and Australian twin families at ages 0-50 years

artículo científico publicado en 2010

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

artículo científico publicado en 2008

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

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

artículo científico publicado en 2014

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

artículo científico publicado en 2020

High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

Human intellectual disability genes form conserved functional modules in Drosophila.

artículo científico publicado en 2013

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers

artículo científico publicado en 2015

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

scientific journal article

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Identification of rare de novo epigenetic variations in congenital disorders.

artículo científico publicado en 2018

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

artículo científico publicado en 2005

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

artículo científico publicado en 2010

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

artículo científico publicado en 2007

Implications of Genetic Testing in Dilated Cardiomyopathy

artículo científico publicado en 2020

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

artículo científico

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

artículo científico publicado en 2007

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2007

Leveraging genomic diversity to promote human and animal health

scientific article published on 11 December 2019

Long-read trio sequencing of individuals with unsolved intellectual disability

scientific article published on 30 November 2020

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

artículo científico publicado en 2011

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

artículo científico publicado en 2012

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

artículo científico publicado en 2006

Low frequency of MECP2 mutations in mentally retarded males.

artículo científico publicado en 2002

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

artículo científico publicado en 2013

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

artículo científico publicado en 2005

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

artículo científico publicado en 2007

Meier-Gorlin syndrome

artículo científico publicado en 2015

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

artículo científico publicado en 2012

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

scientific article published on 11 June 2019

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

artículo científico publicado en 2016

Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy

artículo científico publicado en 2019

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

artículo científico publicado en 2010

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

artículo científico publicado en 2014

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

artículo científico publicado en 2008

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 ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

scientific article published on 25 April 2019

Mutations in ANTXR1 cause GAPO syndrome.

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 DVL1 cause an osteosclerotic form of Robinow syndrome.

artículo científico publicado en 2015

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

artículo científico publicado en 2012

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

artículo científico publicado en 2017

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 RPSA and NKX2-3 link development of the spleen and intestinal vasculature

artículo científico publicado en 2019

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

artículo científico publicado en 2004

Mutations in different components of FGF signaling in LADD syndrome

artículo científico publicado en 2006

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

artículo científico publicado en 2006

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

artículo científico publicado en 2002

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

artículo científico publicado en 2012

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

artículo científico publicado en 2006

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

artículo científico publicado en 2006

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

artículo científico publicado en 2007

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

artículo científico publicado en 2006

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

artículo científico publicado en 2008

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

article

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

scientific article published on 13 December 2018

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

artículo científico publicado en 2018

No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease

article

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations

artículo científico publicado en 2014

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

scientific article published on 07 December 2019

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

article

Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis.

artículo científico publicado en 2005

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

artículo científico publicado en 2013

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

artículo científico publicado en 2013

P63 gene mutations and human developmental syndromes.

artículo científico publicado en 2002

PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis

artículo científico publicado en 2002

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

artículo científico publicado en 2002

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

artículo científico publicado en 2017

Parental subfertility, fertility treatment, and the risk of congenital anorectal malformations

artículo científico publicado en 2015

Pathogenesis of split-hand/split-foot malformation.

artículo científico publicado en 2003

Pattern of p63 mutations and their phenotypes--update

artículo científico publicado en 2006

Phenome connections

artículo científico publicado en 2008

Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

artículo científico publicado en 2020

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

artículo científico publicado en 2012

Pierpont syndrome: a collaborative study.

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

artículo científico

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

artículo científico publicado en 2017

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

artículo científico publicado en 2017

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

artículo científico publicado en 2008

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes

artículo científico publicado en 2006

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

artículo científico publicado en 2010

Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients

artículo científico publicado en 2004

Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings.

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Splitting p63

artículo científico publicado en 2002

Status quo of annotation of human disease variants.

artículo científico publicado en 2013

Structural asymmetries of the human cerebellum in relation to cerebral cortical asymmetries and handedness

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

artículo científico publicado en 2002

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

artículo científico publicado en 2014

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

The biological coherence of human phenome databases

artículo científico

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

artículo científico publicado en 2006

The genetic architecture of the human cerebral cortex

The genetic architecture of the human cerebral cortex

artículo científico publicado en 2020

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males

artículo científico publicado en 2006

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

artículo científico publicado en 2013

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment

artículo científico publicado en 2002

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

artículo científico publicado en 2015

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

artículo científico publicado en 2018

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

scientific article published on 13 December 2016

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome

artículo científico publicado en 2011

Understanding variable expressivity in microdeletion syndromes.

artículo científico publicado en 2010

Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability.

artículo científico publicado en 2006

Unlocking Mendelian disease using exome sequencing

artículo científico

Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated Cardiomyopathy

scientific article published on 12 June 2019

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

artículo científico publicado en 2017

WNT5A mutations in patients with autosomal dominant Robinow syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2011

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

artículo científico

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