Lista de obras - Geert Vandeweyer - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

CNV-WebStore: online CNV analysis, storage and interpretation

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

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

artículo científico

FRA2A is a CGG repeat expansion associated with silencing of AFF3

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Identification of rare copy number variants in high burden schizophrenia families

artículo científico publicado en 2013

Insufficient evidence for a role of SERPINF1 in otosclerosis

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Mutations in ADNP affect expression and subcellular localization of the protein

artículo científico publicado en 2018

On the spot: very local chromosomal rearrangements

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Lista de obras de 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.