List of works - Raoul Hennekam

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

scientific article

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

scientific article

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

scientific article

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Revised diagnostic criteria for the Marfan syndrome

article by Anne De Paepe et al published 24 April 1996 in American Journal of Medical Genetics Part A

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

scientific article

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

scientific article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

scientific article

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

scientific article

Identification of mutations in CUL7 in 3-M syndrome

scientific article

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

scientific article

Next-generation sequencing demands next-generation phenotyping

scientific article published on March 27, 2012

Protein-truncating mutations in ASPM cause variable reduction in brain size

scientific article published on 21 October 2003

3D analysis of facial morphology.

scientific article published in May 2004

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

scientific article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

scientific article published on 14 December 2008

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

scientific article

The mutation spectrum in RECQL4 diseases

scientific article

Discriminating power of localized three-dimensional facial morphology

scientific article

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients

scientific article published on 30 August 2013

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

scientific article

High rate of mosaicism in individuals with Cornelia de Lange syndrome

scientific article published on March 15, 2013

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

scientific article

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

scientific article

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

scientific article

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

scientific article

Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome

scientific article

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

scientific article

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology

scientific article

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

scientific article

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

scientific article

High incidence of malformation syndromes in a series of 1,073 children with cancer

scientific article

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

scientific article published on 24 February 2010

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

scientific article published in April 2007

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria

scientific article

Further delineation of Kabuki syndrome in 48 well-defined new individuals

scientific article published in January 2005

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

scientific article

Elements of morphology: introduction

scientific article published in January 2009

Further delineation of the chromosome 14q terminal deletion syndrome

scientific article (publication date: June 2002)

List of works by Raoul Hennekam

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Revised diagnostic criteria for the Marfan syndrome

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Identification of mutations in CUL7 in 3-M syndrome

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

Next-generation sequencing demands next-generation phenotyping

Protein-truncating mutations in ASPM cause variable reduction in brain size

3D analysis of facial morphology.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

The mutation spectrum in RECQL4 diseases

Discriminating power of localized three-dimensional facial morphology

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

High rate of mosaicism in individuals with Cornelia de Lange syndrome

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Cantú syndrome is caused by mutations in ABCC9.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

High incidence of malformation syndromes in a series of 1,073 children with cancer

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria

Further delineation of Kabuki syndrome in 48 well-defined new individuals

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

Elements of morphology: introduction

Further delineation of the chromosome 14q terminal deletion syndrome