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Raoul C.M. Hennekam

Raoul C.M. Hennekam

D-Index & Metrics

Genetics

D-Index
118
Citations
51203
World Ranking
412
National Ranking
13

Medicine

D-Index
122
Citations
57606
World Ranking
3463
National Ranking
129

Overview

Raoul C.M. Hennekam is affiliated with the University of Amsterdam in the Netherlands. Their research spans several fields, prominently including biochemistry, genetics, and molecular biology with a total of 67 publications. Medicine is another significant area of focus with 41 publications. Within these broader fields, Hennekam's work touches on subfields such as molecular biology, genetics, surgery, physiology, and pediatrics, perinatology, and child health.

The scientist's research topics cover a range of subjects, including genomic variations and chromosomal abnormalities, genomics and chromatin dynamics, RNA research and splicing, genetics and neurodevelopmental disorders, congenital limb and hand anomalies, chromatin remodeling and cancer, and prenatal screening and diagnostics.

Hennekam has authored papers in several key publication venues. These include:

  • European Journal of Medical Genetics
  • American Journal of Medical Genetics Part A
  • American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Genetics in Medicine
  • Human Molecular Genetics

Notable recent publications by Hennekam encompass:

  • De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome, 2020, Genetics in Medicine
  • Delineation of phenotypes and genotypes related to cohesin structural protein RAD21, 2020, Human Genetics
  • Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism, 2021, Scientific Reports
  • Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome, 2023, European Journal of Medical Genetics
  • European lipodystrophy registry: background and structure, 2020, Orphanet Journal of Rare Diseases

Frequent coauthors working with Hennekam include:

  • Leonie A. Menke
  • Jill A. Fahrner
  • Ariana Kariminejad
  • Margaret P Adam
  • Kreepa Kooblall

Best Publications

  • Syndromes of the Head and Neck

    Raoul C. M. Hennekam;R. J. Gorlin;M. M. Cohen

  • LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

    Y. Q. Gong;R. B. Slee;N. Fukai;G. Rawadi

  • Revised diagnostic criteria for the Marfan syndrome.

    A. De Paepe;R. B. Devereux;H. C. Dietz;R. C. M. Hennekam

  • Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

    Fred Petrif;Rachel H. Giles;Hans G. Dauwerse;Jasper J. Saris

  • Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

    Jacopo Celli;Pascal Duijf;Ben C.J Hamel;Michael Bamshad

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

    Andrew J Sharp;Sierra Hansen;Rebecca R Selzer;Ze Cheng

  • Hutchinson-Gilford progeria syndrome: review of the phenotype.

    Raoul C.M. Hennekam

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

    Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  • Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

    Stephen A. Brown;Dorothy Warburton;Lucia Y. Brown;Chih-yu Yu

  • The Smith-Lemli-Opitz syndrome

    Richard I Kelley;Raoul C M Hennekam

  • Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

    Jeroen H. Roelfsema;Stefan J. White;Yavuz Ariyürek;Deborah Bartholdi

  • Mapping the human DC lineage through the integration of high-dimensional techniques

    Peter See;Charles-Antoine Dutertre;Charles-Antoine Dutertre;Jinmiao Chen;Patrick Günther

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

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

    Francesca Pasutto;Heinrich Sticht;Gerhard Hammersen;Gabriele Gillessen-Kaesbach

  • Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

    Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick

  • Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

    Frédéric Brioude;Jennifer M Kalish;Alessandro Mussa;Alison C Foster;Alison C Foster

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

    Claire L. Navarro;Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Irène Boccaccio

  • Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

    Nandita A. Quaderi;Susann Schweiger;Karin Gaudenz;Brunella Franco

  • Rubinstein-Taybi syndrome.

    Raoul C M Hennekam;Raoul C M Hennekam

Frequent Co-Authors

Marcel M.A.M. Mannens
Marcel M.A.M. Mannens University of Amsterdam
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Alain Verloes
Alain Verloes Université Paris Cité
Gabriele Gillessen-Kaesbach
Gabriele Gillessen-Kaesbach University of Lübeck
Frits A. Beemer
Frits A. Beemer Utrecht University
Hülya Kayserili
Hülya Kayserili Koç University
Martijn H. Breuning
Martijn H. Breuning Leiden University Medical Center
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
Leslie G. Biesecker
Leslie G. Biesecker National Institutes of Health
Han G. Brunner
Han G. Brunner Radboud University

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