List of works - Catheline Vilain

"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency

scientific article published on September 1, 2011

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

scientific article published in August 2013

A familial heterozygous null mutation of MET in autism spectrum disorder

scientific article (publication date: October 2014)

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems

scientific article

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

scientific article

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Digestive involvement in a severe form of Snyder-Robinson syndrome: possible expansion of the phenotype

scientific article published on 10 November 2020

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

scientific article published on 4 February 2015

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

scientific article published on 28 June 2013

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

scientific article published on 10 July 2017

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

scientific article

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives

scientific article published on 19 August 2020

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

scientific article published on 15 February 2014

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

scientific article

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

scientific article published on 23 September 2015

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3

scientific article published on 18 August 2020

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

scientific article published on 19 July 2017

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

scientific article published on 10 October 2013

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy

scientific article published on 19 February 2016

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men

scientific article published on 01 July 2019

List of works by Catheline Vilain

"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A familial heterozygous null mutation of MET in autism spectrum disorder

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Digestive involvement in a severe form of Snyder-Robinson syndrome: possible expansion of the phenotype

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men