List of works - Han G. Brunner

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

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

scientific article

Genome sequencing identifies major causes of severe intellectual disability

scientific article

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

scientific article

A de novo paradigm for mental retardation

scientific article published on 14 November 2010

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

scientific article

Identification of common variants associated with human hippocampal and intracranial volumes

scientific article published on 15 April 2012

Common genetic variants influence human subcortical brain structures

scientific article

De novo mutations in human genetic disease

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

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

Diagnostic genome profiling in mental retardation

scientific article

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

scientific article

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

scientific article

A text-mining analysis of the human phenome

scientific article published on 01 May 2006

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

scientific article

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

scientific article

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

scientific article

Disease gene identification strategies for exome sequencing

scientific article

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

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

scientific article

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

scientific article

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

scientific article

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

scientific article

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

scientific article

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

scientific article published on 8 July 2012

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

scientific article published on October 2008

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

scientific article

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

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

Unlocking Mendelian disease using exome sequencing

scientific article published on 14 September 2011

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

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

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

scientific article published in August 2016

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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

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

From syndrome families to functional genomics

scientific article published on July 2004

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

scientific article

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

scientific article

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

scientific article

Mutations in different components of FGF signaling in LADD syndrome

scientific article

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

scientific article

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

scientific article published on 29 April 2012

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

scientific article published on 9 April 2002

WNT5A mutations in patients with autosomal dominant Robinow syndrome

scientific article

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

scientific article (publication date: 3 October 2016)

Pathogenesis of split-hand/split-foot malformation.

scientific article

Characterization of a recurrent 15q24 microdeletion syndrome.

scientific article published on 14 March 2007

List of works by Han G. Brunner

Diagnostic exome sequencing in persons with severe intellectual disability

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

Genome sequencing identifies major causes of severe intellectual disability

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

A de novo paradigm for mental retardation

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

Identification of common variants associated with human hippocampal and intracranial volumes

Common genetic variants influence human subcortical brain structures

De novo mutations in human genetic disease

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

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

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

Diagnostic genome profiling in mental retardation

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

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

A text-mining analysis of the human phenome

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

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

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

Disease gene identification strategies for exome sequencing

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

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

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

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

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

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

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

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

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

The Matchmaker Exchange: a platform for rare disease gene discovery

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

Unlocking Mendelian disease using exome sequencing

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

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

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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

From syndrome families to functional genomics

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

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

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

Mutations in different components of FGF signaling in LADD syndrome

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

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

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

WNT5A mutations in patients with autosomal dominant Robinow syndrome

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

Pathogenesis of split-hand/split-foot malformation.

Characterization of a recurrent 15q24 microdeletion syndrome.