List of works - Geert Vandeweyer

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

scientific article

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

scientific article published on 4 June 2010

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA

scientific article published on 13 January 2012

A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples

scientific article published on 14 April 2015

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

scientific article published on 14 January 2011

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

CNV-WebStore: online CNV analysis, storage and interpretation

scientific article

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

scientific article published on 13 October 2014

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Detection and interpretation of genomic structural variation in health and disease.

scientific article published on January 2013

FRA2A is a CGG repeat expansion associated with silencing of AFF3

scientific article

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

scientific article published on 26 February 2009

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

scientific article

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

scientific article

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

scientific article published on 11 June 2012

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

scientific article

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

scientific article

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

scientific article published on 19 June 2017

Identification of rare copy number variants in high burden schizophrenia families

scientific article published on 15 March 2013

Insufficient evidence for a role of SERPINF1 in otosclerosis

scientific article published on 09 April 2019

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting.

scientific article published on 21 November 2015

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

scientific article published on 5 March 2013

Mutations in ADNP affect expression and subcellular localization of the protein

scientific article published on 17 July 2018

On the spot: very local chromosomal rearrangements

scientific article

Osmotic stress inhibits leaf growth of Arabidopsis thaliana by enhancing ARF-mediated auxin responses

scientific article published on 19 February 2020

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

article

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

scientific article published on 13 February 2017

The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.

scientific article published in August 2015

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

scientific article

The roles of patient groups in fostering cancer research

scientific article published on 01 February 2020

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

scientific article

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

scientific article

Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.

scientific article

List of works by Geert Vandeweyer

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA

A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

CNV-WebStore: online CNV analysis, storage and interpretation

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Detection and interpretation of genomic structural variation in health and disease.

FRA2A is a CGG repeat expansion associated with silencing of AFF3

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

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

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

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

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Identification of rare copy number variants in high burden schizophrenia families

Insufficient evidence for a role of SERPINF1 in otosclerosis

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Mutations in ADNP affect expression and subcellular localization of the protein

On the spot: very local chromosomal rearrangements

Osmotic stress inhibits leaf growth of Arabidopsis thaliana by enhancing ARF-mediated auxin responses

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

The roles of patient groups in fostering cancer research

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.