List of works - Sascha Vermeer

A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia

scientific article published on 12 July 2013

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

scientific article published on May 2007

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations

scientific article

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

scientific article published on 9 May 2008

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

scientific article published on 24 October 2008

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

scientific article published in October 2014

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

scientific article

Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs

scientific article published on 22 March 2012

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

scientific article

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

scientific article

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

scientific article published on May 2009

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

scientific article

Massively parallel sequencing of ataxia genes after array-based enrichment

scientific article

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

scientific article published on 9 May 2013

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

scientific article

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

scientific article published on 2 March 2013

Reviewing the genetic causes of spastic-ataxias

scientific article

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

List of works by Sascha Vermeer

A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Massively parallel sequencing of ataxia genes after array-based enrichment

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

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

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

Reviewing the genetic causes of spastic-ataxias

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia