about
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPVariantDB: a flexible annotation and filtering portal for next generation sequencing data.CNV-WebStore: online CNV analysis, storage and interpretation.Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.FRA2A is a CGG repeat expansion associated with silencing of AFF3A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samplesThe contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Detection and interpretation of genomic structural variation in health and disease.Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.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.Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm GenesMutations in ADNP affect expression and subcellular localization of the proteinA de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNAArray-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardationIdentification of rare copy number variants in high burden schizophrenia familiesOsmotic stress inhibits leaf growth of Arabidopsis thaliana by enhancing ARF-mediated auxin responsesThe roles of patient groups in fostering cancer researchInsufficient evidence for a role of SERPINF1 in otosclerosis
P50
Q24567998-E87E1E65-BCB8-4FD9-878D-C6959A61F45FQ30865154-67872582-589F-4D66-B671-B90B5AEA16F0Q33786270-A68E402A-B924-4628-A393-8DF543389495Q34326689-295C049B-D7C6-42A6-9B91-329907709CD8Q34330891-B6EEB464-D359-4AF7-A25C-C7C4D69EE145Q35156954-3E2B0276-C929-4565-93EC-0BFC04B0F468Q35602221-2D5168DA-1A64-4E69-A64C-AE018C91AEFBQ36017050-A6540D3C-F111-4536-8215-F904301E4CF1Q36091184-23A11A91-D73D-41B0-B489-43180761CCCDQ36133280-1C388FFA-6CDB-4799-85C5-B80A4DF0226EQ38068938-E2BB2AE6-8D81-43D1-AAEA-0DCDE723BCECQ38917473-C76725FF-645B-4956-93A3-C566A27FA405Q40267165-B9390151-2095-4E4B-BF42-7DA9DD67F685Q41932516-6E6C12BB-33C8-435A-B3F1-00CA58DBD061Q48207122-F9802498-4D94-432E-AD85-C7530F9EDDDBQ48285481-18701FBE-40E8-4C5F-8D56-3565CE578D02Q48721610-3C702A38-25C6-48CA-A25A-A06794337CDFQ50306682-F2BAB6BC-1280-49B3-BA4B-362D59FE7D83Q50309733-1E55BF79-F6DB-42B4-9431-2904054AB58EQ51849217-167F0BDD-299A-4877-9E21-D0C1ED1D538EQ55738656-B029A785-3597-4F04-930F-4544FDA5E4F1Q57828393-2A4CDAC7-FD76-49D6-9307-C6052B5F4159Q57828422-039D1138-2A2E-4666-884E-D70FD10EDD24Q57828426-3ED5C083-5400-45DC-B9D9-CA144F249D5DQ60357837-970A52F9-2766-44D0-B784-BAC9EA9FBD56Q89796051-8B80B7AB-0CD6-41D6-BA1F-3D8FA06123C7Q92163538-3264294E-2CA1-4AB8-8AF9-F074CBE045E4Q92990679-32A18F7B-AB9B-4C64-B570-BA37DA798B23
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Geert Vandeweyer
@ast
Geert Vandeweyer
@en
Geert Vandeweyer
@es
Geert Vandeweyer
@nl
Geert Vandeweyer
@sl
type
label
Geert Vandeweyer
@ast
Geert Vandeweyer
@en
Geert Vandeweyer
@es
Geert Vandeweyer
@nl
Geert Vandeweyer
@sl
prefLabel
Geert Vandeweyer
@ast
Geert Vandeweyer
@en
Geert Vandeweyer
@es
Geert Vandeweyer
@nl
Geert Vandeweyer
@sl
P106
P31
P496
0000-0002-6262-6522