List of works by Han G. 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

scientific article published on 23 June 2020

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

scientific article published on 18 October 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.

scientific article published on 10 April 2018

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

scientific article published on 23 March 2017

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

scientific article

A de novo paradigm for mental retardation.

scientific article published on 14 November 2010

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

scientific article published on 5 December 2017

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

scientific article

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

scientific article

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.

scientific article

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

scientific article published on 01 May 2006

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

scientific article

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

scientific article

Absence of heterozygosity due to template switching during replicative rearrangements

scientific article

Accurate distinction of pathogenic from benign CNVs in mental retardation

scientific article

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

article

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

scientific article

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

scientific article published on 12 November 2018

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

scientific article published on 5 July 2011

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

scientific article published in Nature Communications

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

scientific article published on 02 May 2019

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

scientific article

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

scientific article

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.

scientific article published in June 2006

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

scientific article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

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

scientific article published in Nature Communications

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

scientific article published on 2 July 2011

Cantú syndrome is caused by mutations in ABCC9.

scientific article

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

scientific article

Characterization of a recurrent 15q24 microdeletion syndrome.

scientific article published on 14 March 2007

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

scientific article published in January 2010

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

scientific article

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

scientific article published on 01 November 2018

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

scientific article published on 3 February 2016

Clinical significance of de novo and inherited copy-number variation

scientific article published on 10 October 2013

Common genetic variants influence human subcortical brain structures

scientific article

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

scientific article

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

scientific article

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

scientific article published on 19 December 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

scientific article

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

scientific article published on 12 February 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

scientific article published on 29 July 2020

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

scientific article (publication date: 2012)

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

scientific article published on 25 August 2016

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

scientific article

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

scientific article

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

scientific article published on 24 February 2016

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes.

scientific article published on 19 October 2010

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

scientific article

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

scientific article published on 27 January 2016

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

scientific article published in November 2017

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

scientific article published in January 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.

scientific article

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

scientific article published on 28 March 2019

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

scientific article

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

scientific article published on 17 September 2018

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

scientific article

De novo mutations in human genetic disease

scientific article

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.

scientific article published on 24 April 2018

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

scientific article

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

scientific article

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

scientific article published on 19 January 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

scientific article

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

scientific article published in August 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

scientific article

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

scientific article

Disease gene identification strategies for exome sequencing

scientific article

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

scientific article published on March 2016

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

scientific article

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

scientific article

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

scientific article published on 15 October 2019

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

scientific article published on 21 September 2020

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

scientific article published on 26 April 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

scientific article published on 01 April 2007

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

scientific article

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

scientific article

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

scientific article published on 14 October 2020

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

scientific article

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

scientific article

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

scientific article

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

scientific article

Feingold syndrome: clinical review and genetic mapping

scientific article (publication date: November 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.

scientific article published in June 2010

From syndrome families to functional genomics

scientific article published on July 2004

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

scientific article

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

scientific article published on September 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

scientific article published on 26 November 2014

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

scientific article published on 4 May 2013

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

scientific article published on 01 April 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

scientific article published on December 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

scientific article

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

scientific article

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

scientific article published on 17 July 2010

Genome sequencing identifies major causes of severe intellectual disability

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 August 2007

Germline AGO2 mutations impair RNA interference and human neurological development

scientific article published on 16 November 2020

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

scientific article published on 11 July 2016

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

scientific article

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

scientific article published on 21 December 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.

scientific article

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

scientific article published on 28 October 2020

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

scientific article published on 4 November 2015

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

scientific article published in June 2004

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

scientific article published on 9 April 2002

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

scientific article

Homozygosity mapping in outbred families with mental retardation

scientific article

Human intellectual disability genes form conserved functional modules in Drosophila.

scientific article

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

scientific article published on 24 October 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).

scientific article published on 2 June 2004

Identification of common variants associated with human hippocampal and intracranial volumes

scientific article published on 15 April 2012

Identification of disease genes by whole genome CGH arrays

scientific article

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

scientific article published on 11 October 2013

Identification of rare de novo epigenetic variations in congenital disorders.

scientific article published on 25 May 2018

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

scientific article published on 20 April 2005

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

scientific article

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

scientific article

Implications of Genetic Testing in Dilated Cardiomyopathy

scientific article published on 03 September 2020

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

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

scientific article published on 14 April 2007

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

scientific article published in July 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

scientific article (publication date: July 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

scientific article

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

scientific article published on 8 July 2012

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

scientific article

Low frequency of MECP2 mutations in mentally retarded males.

scientific article

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

scientific article published on 26 April 2013

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

scientific article

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

scientific article

Meier-Gorlin syndrome

scientific article

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

scientific article

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

scientific article published in August 2016

Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy

scientific article published on 18 September 2019

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

scientific article

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

scientific article

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

scientific article published on June 2014

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

scientific article published on 30 January 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

scientific article published in May 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.

scientific article published on 18 April 2013

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

scientific article

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.

scientific article published on 26 March 2015

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

scientific article published in March 2012

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

scientific article

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

scientific article

Mutations in MED12 cause X-linked Ohdo syndrome

scientific article published on 7 February 2013

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

scientific article published on 23 September 2019

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

scientific article

Mutations in different components of FGF signaling in LADD syndrome

scientific article

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

scientific article

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

scientific article

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

scientific article published on 29 April 2012

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in July 2006

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

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

scientific article

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

scientific article published on 20 December 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

scientific article published on 20 May 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

scientific article (publication date: 3 October 2016)

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

scientific article published on 10 March 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.

scientific article published in August 2005

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

scientific article published on 12 November 2013

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

scientific article

P63 gene mutations and human developmental syndromes.

scientific article

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

scientific article (publication date: November 2002)

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

scientific article

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

scientific article published on 2 November 2017

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

scientific article published on 01 March 2015

Pathogenesis of split-hand/split-foot malformation.

scientific article

Pattern of p63 mutations and their phenotypes--update

scientific article published on 01 July 2006

Phenome connections

scientific article published on 19 February 2008

Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

scientific article published on 06 November 2020

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

scientific article published on 7 February 2012

Pierpont syndrome: a collaborative study.

scientific article published on 10 August 2011

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

scientific article published in December 2014

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

scientific article published on 30 August 2017

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

scientific article published on 2 February 2017

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

scientific article published on September 2017

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

scientific article published on 13 July 2016

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

scientific article

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

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

scientific article published on October 2008

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 16 August 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

scientific article

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

scientific article

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

scientific article published in April 2007

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

scientific article published on 30 August 2017

Splitting p63

scientific article

Status quo of annotation of human disease variants.

scientific article

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

scientific article published on 26 August 2016

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

scientific article published on 4 March 2015

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

scientific article

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

scientific article published on March 2002

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

scientific article

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

scientific article

The biological coherence of human phenome databases

scientific article published on December 2009

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

scientific article published on May 2006

The genetic architecture of the human cerebral cortex

The genetic architecture of the human cerebral cortex

scientific article

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

scientific article

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

scientific article

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

scientific article

The phenotype of recurrent 10q22q23 deletions and duplications

scientific article

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

scientific article published on 01 February 2002

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

scientific article published on 10 February 2015

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

scientific article published on 24 March 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

scientific article

Understanding variable expressivity in microdeletion syndromes.

scientific article published in March 2010

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

scientific article

Unlocking Mendelian disease using exome sequencing

scientific article published on 14 September 2011

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

scientific article

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

scientific article

WNT5A mutations in patients with autosomal dominant Robinow syndrome

scientific article

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

scientific article

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

scientific article published on June 2017

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