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List of works by Raoul Hennekam

3D analysis of facial morphology.

scientific article published in May 2004

3D morphometry aids facial analysis of individuals with a childhood cancer

scientific article published on 2 August 2016

A diagnostic flow chart for non-immune hydrops fetalis

scientific article published on 01 May 2009

A locus for hereditary capillary malformations mapped on chromosome 5q

scientific article published on 02 March 2002

A phenotype map for 14q32.3 terminal deletions.

scientific article published on 24 February 2012

A proposal for classification of entities combining vascular malformations and deregulated growth ⬇️

scientific article published on February 26, 2011

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

scientific article published on 21 January 2015

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations ⬇️

scientific article published on 02 December 2011

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

scientific article published on 11 May 2016

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

scientific article published on 19 March 2009

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12

scientific article published on 07 March 2007

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability

scientific article published on 18 September 2012

Are capillary malformations neurovenular or purely neural?

scientific article

Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: a recognizable syndrome

scientific article published in July 2005

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?

scientific article

Atypical face shape and genomic structural variants in epilepsy

scientific article published on 13 September 2012

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

scientific article published on 12 May 2017

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbachâ Rott syndrome

scientific article published on 01 December 2009

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

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

scientific article published on 01 August 2007

Baseline Quality of Life in patients with Klippel-Trenaunay syndrome.

scientific article published on 16 March 2009

Brain tumors and syndromes in children

scientific article published on 17 February 2014

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

scientific article

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

scientific article

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

scientific article published on 17 June 2016

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up

scientific article published in April 2005

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

scientific article published on 30 August 2013

Common causes of genetic epileptic encephalopathies

scientific article published in May 2012

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

scientific article

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

scientific article

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

scientific article published on 01 May 2010

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

scientific article published on 15 September 2020

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Cranio-osteoarthropathy in sibs

scientific article published on July 2007

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

scientific article published on 02 September 2020

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

scholarly preprint article

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

scientific article published on 22 July 2020

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

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

Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation

scientific article published on 01 May 2005

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

scientific article published on 21 August 2019

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome

scientific article published on 8 July 2014

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

scientific article

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020

Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome

scientific article published on 22 October 2008

Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders

scientific article published on 09 January 2013

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

scientific article published on 23 October 2018

Discriminating power of localized three-dimensional facial morphology

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

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

scientific article

Elements of morphology: Standard terminology for the external genitalia ⬇️

scientific article published on May 6, 2013

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

scientific article published on 29 August 2019

Elements of morphology: introduction

scientific article published in January 2009

Elements of morphology: standard terminology for the nose and philtrum

scientific article published in January 2009

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scholarly article published in European Journal of Human Genetics

Etiology of mental retardation in children referred to a tertiary care center: a prospective study

scientific article published in July 2005

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

scientific article

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)

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Face shape differs in phylogenetically related populations

scientific article

Familial clustering of giant congenital melanocytic nevi

scientific article published on 22 May 2009

Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems

scientific article published in April 2010

Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity

scientific article published in November 2005

Fetal hypokinesia sequence caused by maternal autoimmune disorder?

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review

scientific article published on 01 July 2003

Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment

scientific article published in October 2009

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

scientific article

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

scientific article

Further delineation of Frank-ter Haar syndrome

scientific article published in December 2004

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

scientific article published in January 2005

Further delineation of Malan syndrome

scientific article published on 25 June 2018

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

scientific article published on 01 December 2008

Further delineation of the chromosome 14q terminal deletion syndrome

scientific article (publication date: June 2002)

Genetic control of tumor development in malformation syndromes

scientific article published on 03 November 2020

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

scientific article

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

scientific article

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

scientific article published on 14 December 2008

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

scientific article

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

scientific article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

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

scientific article

High rate of mosaicism in individuals with Cornelia de Lange syndrome ⬇️

scientific article published on March 15, 2013

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

scientific article

Identification of copy number variants associated with BPES-like phenotypes

Identification of mutations in CUL7 in 3-M syndrome

scientific article

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin–Lowry syndrome ⬇️

scientific article published on December 20, 2012

Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins

scientific article published on 14 January 2010

Intellectual disability and hemizygous GPD2 mutation

scientific article published on 29 March 2013

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

scientific article published on 01 January 2014

Interpreting humanity's genes

scientific article published on 12 August 2009

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

scientific article

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

scientific article published on 16 February 2012

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology

scientific article

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

scientific article

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

scientific article

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

scientific article

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

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)

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

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review

scientific article

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018)

scientific article published on 28 July 2018

MECP2 duplication in a patient with congenital central hypoventilation

scientific article published on 01 June 2010

MICRO syndrome: an entity distinct from COFS syndrome

scientific article published in July 2004

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

scientific article

Microcephaly, unusual nose, cutaneous syndactyly, and mental retardation

scientific article published on October 2010

Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers

scientific article published in January 2003

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia

scientific article

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

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

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

scientific article published in April 2007

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

scientific article published on March 2016

Multiple tumors due to mosaic genome-wide paternal uniparental disomy

scientific article published on 18 March 2019

Multiplexed profiling of secreted proteins for the detection of potential space biomarkers ⬇️

scientific article published on November 30, 2010

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies ⬇️

scientific article published on September 30, 2010

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

scientific article published on 12 July 2012

Mutational spectrum of Smith–Lemli–Opitz syndrome ⬇️

scientific article published on 05 October 2012

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal 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 ZBTB20 cause Primrose syndrome

scientific article

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

scientific article published on 2 December 2009

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

scientific article

Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes

article

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scientific article

Next-generation sequencing demands next-generation phenotyping ⬇️

scientific article published on March 27, 2012

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

scientific article

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

scientific article published on September 2015

Nicolaides-Baraitser syndrome: Delineation of the phenotype

scientific article

Non‐immune hydrops fetalis: A short review of etiology and pathophysiology ⬇️

scientific article published on 02 February 2012

Opposite effects on facial morphology due to gene dosage sensitivity

scientific article

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

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

scientific article

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

scientific article published on 12 April 2016

Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene ⬇️

scientific article published on January 28, 2012

Predicting additional care in young children with neurodevelopmental disability: a systematic literature review

scientific article

Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? ⬇️

scientific article published on January 18, 2011

Prevalence and patterns of morphological abnormalities in patients with childhood cancer

scientific article

Primrose Syndrome: characterization of the phenotype in 42 patients

scientific article published on 08 April 2020

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

scientific article published on 21 October 2003

Reply to Happle.

scientific article published in April 2009

Rett syndrome: A study of the face ⬇️

scientific article published on May 27, 2011

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

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

scientific article published on 15 February 2018

Rubinstein-Taybi syndrome (CREBBP, EP300).

scientific article published on 28 July 2010

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

scientific article

Self-injurious behavior

scientific article

Severe Cenani-Lenz syndrome caused by loss of LRP4 function

scientific article published on 01 May 2013

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

scientific article published on 24 December 2016

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions ⬇️

scientific article published on April 13, 2012

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

scientific article published on 24 February 2010

Structural genome variations in individuals with childhood cancer and tumour predisposition syndromes ⬇️

scientific article published on March 6, 2013

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

scientific article published on 2 May 2016

The Capacity Profile: a method to classify additional care needs in children with neurodevelopmental disabilities

scientific article published on May 2007

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome? ⬇️

scientific article published on 04 April 2011

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients

scientific article

The idic(15) syndrome: Expanding the phenotype ⬇️

scientific article published on May 14, 2012

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

scientific article

The mutation spectrum in RECQL4 diseases

scientific article

Tourette syndrome, growth retardation, and platyspondyly: an entity?

scientific article published in July 2002

Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

scientific article published on 01 December 2009

Two siblings with an unusual nasal malformation: further instances of craniorhiny?

article

Variants in KAT6A and pituitary anomalies

scientific article published on 21 June 2017

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

scientific article

Variation in WNT7A is unlikely to be a cause of familial congenital talipes equinovarus

scientific article

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants

scientific article published on 11 June 2019

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

scientific article

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

scientific article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

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