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Genetics

D-Index
59
Citations
11818
World Ranking
3251
National Ranking
114

Overview

Claudia A. L. Ruivenkamp is affiliated with Leiden University Medical Center in the Netherlands. Their research primarily focuses on the intersection of biochemistry, genetics, and molecular biology, with a significant emphasis on genetics and neurodevelopmental disorders. Throughout their career, they have contributed to fields such as cardiology and cardiovascular medicine, immunology, and cognitive neuroscience, expanding the scope of their research within medical genetics.

Their work covers several main topics, including:

  • Genetics and neurodevelopmental disorders
  • Genomic variations and chromosomal abnormalities
  • Genomics and rare diseases
  • Epigenetics and DNA methylation
  • Autism spectrum disorder research
  • Ion channel regulation and function
  • Cellular transport and secretion

Ruivenkamp has published extensively, with notable venues including:

  • The American Journal of Human Genetics (8 publications)
  • American Journal of Medical Genetics Part A (6 publications)
  • Genetics in Medicine (3 publications)
  • Human Genetics and Genomics Advances (3 publications)
  • European Journal of Pediatrics (2 publications)

Frequent coauthors who have contributed alongside Ruivenkamp include:

  • Gijs W.E. Santen (12 collaborations)
  • Boris Keren (11 collaborations)
  • Rolph Pfundt (10 collaborations)
  • Arie van Haeringen (10 collaborations)
  • Lisenka E.L.M. Vissers (8 collaborations)

Recent research papers authored or coauthored by Ruivenkamp illustrate their focus on genetic disorders and molecular mechanisms, including:

  • Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature, 2021, The American Journal of Human Genetics
  • The Phenotypic Continuum of ATP1A3-Related Disorders, 2022, Neurology
  • Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature, 2020, Clinical Epigenetics
  • DLG4-related synaptopathy: a new rare brain disorder, 2021, Genetics in Medicine
  • De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay, 2020, The American Journal of Human Genetics

Through these publications, Ruivenkamp contributes to the understanding of genetic mutations, epigenetic modifications, and their relationships to neurodevelopmental and rare diseases. Their interdisciplinary approach combines molecular biology with clinical genetics to investigate complex disorders at the genomic and epigenomic levels.

Best Publications

  • Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Holly A.F. Stessman;Bo Xiong;Bo Xiong;Bradley P. Coe;Tianyun Wang

  • Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

    Cornelis A. Albers;Cornelis A. Albers;Cornelis A. Albers;Dirk S. Paul;Harald Schulze;Kathleen Freson

  • Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

    Johannes G. Dauwerse;Jill Dixon;Saskia Seland;Claudia A L Ruivenkamp

  • Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

    Gijs W E Santen;Emmelien Aten;Yu Sun;Rowida Almomani

  • Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

    Leopold Groesser;Eva Herschberger;Arno Ruetten;Claudia Ruivenkamp

  • Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

    E.K. Bijlsma;A.C.J. Gijsbers;J.H.M. Schuurs-Hoeijmakers;A. van Haeringen

  • Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)

    Schoumans J;Ruivenkamp C;Holmberg E;Kyllerman M

  • Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers.

    Claudia A.L. Ruivenkamp;Tom van Wezel;Carlo Zanon;Alphons P.M. Stassen

  • Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    F.D. Hannes;A.J. Sharp;H.C. Mefford;T. de Ravel

  • Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

    Ron Hochstenbach;Ellen van Binsbergen;John Engelen;Aggie Nieuwint

  • AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Vincenzo Salpietro;Vincenzo Salpietro;Vincenzo Salpietro;Christine L Dixon;Hui Guo;Hui Guo;Oscar D Bello

  • Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

    Wigard P Kloosterman;Masoumeh Tavakoli-Yaraki;Markus J van Roosmalen;Ellen van Binsbergen

  • Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

    Yu Sun;Beata Bak;Nadia Schoenmakers;A. S Paul Van Trotsenburg

  • Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

    Johannes R. Lemke;Kirsten Geider;Katherine L. Helbig;Henrike O. Heyne

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  • Next-generation diagnostics: gene panel, exome, or whole genome?

    Yu Sun;Claudia A.L. Ruivenkamp;Mariëtte J.V. Hoffer;Terry Vrijenhoek

  • MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

    Jan M Wit;Wilma Oostdijk;Monique Losekoot;Hermine A van Duyvenvoorde

  • Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

    C. Halgren;S. Kjaergaard;M. Bak;C. Hansen

  • Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

    B W M van Bon;A Hoischen;J Hehir-Kwa;A P M de Brouwer

  • Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of dutch genome diagnostic laboratories

    Marjan M. Weiss;Bert Van der Zwaag;Jan D. H. Jongbloed;Maartje J. Vogel

Frequent Co-Authors

Martijn H. Breuning
Martijn H. Breuning Leiden University Medical Center
Rolph Pfundt
Rolph Pfundt Radboud University
Jan M. Wit
Jan M. Wit Leiden University Medical Center
Han G. Brunner
Han G. Brunner Radboud University
Bert B.A. de Vries
Bert B.A. de Vries Radboud University
Evan E. Eichler
Evan E. Eichler University of Washington
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Egbert Bakker
Egbert Bakker Leiden University Medical Center
Tjitske Kleefstra
Tjitske Kleefstra Erasmus University Rotterdam
Megan T. Cho
Megan T. Cho National Human Genome Research Institute

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