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Conny M. A. van Ravenswaaij-Arts

Conny M. A. van Ravenswaaij-Arts

D-Index & Metrics

Genetics

D-Index
53
Citations
9353
World Ranking
3734
National Ranking
133

Overview

Conny M. A. van Ravenswaaij-Arts is affiliated with the University Medical Center Groningen in the Netherlands. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, with specific contributions to Medicine. The scholar's work concentrates mainly on Genetics and Molecular Biology, with further interests in Pediatrics, Perinatology and Child Health, Cell Biology, and Pulmonary and Respiratory Medicine.

The research topics explored include:

  • Genomic variations and chromosomal abnormalities
  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Congenital heart defects research
  • Prenatal Screening and Diagnostics
  • Epigenetics and DNA Methylation
  • Cellular transport and secretion

Frequent collaborators in their scientific work include:

  • Aafke Engwerda
  • Wilhelmina S. Kerstjens-Frederikse
  • Trijnie Dijkhuizen
  • Eleana Rraku
  • Morris A. Swertz

Publication venues where they have frequently contributed are:

  • European Journal of Medical Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Orphanet Journal of Rare Diseases
  • Genetics in Medicine
  • European Journal of Human Genetics

Selected recent papers include:

  • "Phelan-McDermid syndrome: a classification system after 30 years of experience," 2022, Orphanet Journal of Rare Diseases
  • "Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation," 2021, EMBO Molecular Medicine
  • "DLG4-related synaptopathy: a new rare brain disorder," 2021, Genetics in Medicine
  • "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype," 2021, Genetics in Medicine
  • "Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome," 2023, European Journal of Medical Genetics

Best Publications

  • Diagnostic Genome Profiling in Mental Retardation

    Bert B.A. de Vries;Rolph Pfundt;Martijn Leisink;David A. Koolen

  • Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

    Lisenka E.L.M. Vissers;Bert B.A. de Vries;Kazutoyo Osoegawa;Irene M. Janssen

  • Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

    Cynthia F. Bartels;Hülya Bükülmez;Hülya Bükülmez;Pius Padayatti;David K. Rhee

  • Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

    Stefanie Eggers;Simon Sadedin;Jocelyn A. van den Bergen;Gorjana Robevska

  • De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh

  • Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

    Michaela Auer-Grumbach;Andrea Olschewski;Lea Papić;Hannie Kremer

  • The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    Claire Redin;Claire Redin;Harrison Brand;Harrison Brand;Ryan L Collins;Ryan L Collins;Tammy Kammin

  • Mutation update on the CHD7 gene involved in CHARGE syndrome

    Nicole Janssen;Jorieke E. H. Bergman;Morris A. Swertz;Lisbeth Tranebjaerg

  • GRIN2A-related disorders : genotype and functional consequence predict phenotype

    Vincent Strehlow;Henrike O Heyne;Henrike O Heyne;Henrike O Heyne;Danique R M Vlaskamp;Katie F M Marwick

  • SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

    Danique R.M. Vlaskamp;Benjamin J. Shaw;Rosemary Burgess;Davide Mei

  • Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

    Marianne Doornbos;Birgit Sikkema-Raddatz;Claudia A. L. Ruijvenkamp;Trijnie Dijkhuizen

  • Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

    Damien L. Bruno;Britt Marie Anderlid;Anna Lindstrand;Conny Van Ravenswaaij-Arts

  • Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH : An update of the phenotypic map

    Ilse Feenstra;Lisenka E. L. M. Vissers;Mirjam Orsel;Ad Geurts van Kessel

  • Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

    Joris A. Veltman;Yvonne Jonkers;Inge Nuijten;Irene Janssen

  • Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

    Mireille Claustres;Viktor Kožich;Els Dequeker;Brain Fowler

  • Rapid Targeted Genomics in Critically Ill Newborns

    Cleo C van Diemen;Wilhelmina S Kerstjens-Frederikse;Klasien A Bergman;Tom J de Koning;Tom J de Koning

  • Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources

    Nicole de Leeuw;Trijnie Dijkhuizen;Jayne Y. Hehir-Kwa;Nigel P. Carter

  • Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

    Marielle E. M. Swinkels;Annet Simons;Dominique F. Smeets;Lisenka E. Vissers

  • Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

    Patrick Deelen;Sipko van Dam;Johanna C Herkert;Juha M Karjalainen

  • CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

    Yvonne Schulz;Peter Wehner;Lennart Opitz;Gabriela Salinas-Riester

Frequent Co-Authors

Lies H. Hoefsloot
Lies H. Hoefsloot Erasmus University Rotterdam
Han G. Brunner
Han G. Brunner Radboud University
Rolph Pfundt
Rolph Pfundt Radboud University
Dominique Smeets
Dominique Smeets Radboud University
Morris A. Swertz
Morris A. Swertz University Medical Center Groningen
Richard J. Sinke
Richard J. Sinke University Medical Center Groningen
Ad Geurts van Kessel
Ad Geurts van Kessel Radboud University
Joris A. Veltman
Joris A. Veltman University of Edinburgh
Bert B.A. de Vries
Bert B.A. de Vries Radboud University
Tjitske Kleefstra
Tjitske Kleefstra Erasmus University Rotterdam

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