World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
76
Citations
18912
World Ranking
1838
National Ranking
64

Medicine

D-Index
77
Citations
19749
World Ranking
18502
National Ranking
684

Overview

Hans Scheffer is affiliated with Radboud University in the Netherlands and specializes in the field of Biochemistry, Genetics and Molecular Biology. Their research predominantly focuses on Genetics, with additional contributions in Cancer Research, Molecular Biology, Pathology and Forensic Medicine, and Pulmonary and Respiratory Medicine.

The primary topics of Scheffer's work include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genetic factors in colorectal cancer, Cystic Fibrosis Research Advances, Genetic Syndromes and Imprinting, and Immunodeficiency and Autoimmune Disorders.

Scheffer has published extensively in well-established journals. Frequent publication venues include:

  • European Journal of Human Genetics
  • European Journal of Pediatrics
  • Human Genomics
  • Human Genetics and Genomics Advances
  • GigaScience

Among recent papers, notable examples include:

  • Recommendations for whole genome sequencing in diagnostics for rare diseases, 2022, European Journal of Human Genetics
  • Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases, 2021, European Journal of Human Genetics
  • Stepwise ABC system for classification of any type of genetic variant, 2021, European Journal of Human Genetics
  • Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands, 2023, European Journal of Pediatrics
  • Twist exome capture allows for lower average sequence coverage in clinical exome sequencing, 2023, Human Genomics

Hans Scheffer frequently collaborates with several researchers, indicating an active involvement in collaborative projects. Frequent co-authors include:

  • Sergi Beltrán
  • Holm Graeßner
  • Matthis Synofzik
  • Steven Laurie
  • Birte Zurek

Best Publications

  • Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

    Joep de Ligt;Marjolein H. Willemsen;Bregje W. M. van Bon;Tjitske Kleefstra

  • Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.

    Carla G van El;Martina C Cornel;Pascal Borry;Ros J Hastings

  • Guidelines for diagnostic next-generation sequencing.

    Gert Matthijs;Erika Souche;Mariëlle Alders;Anniek Corveleyn

  • POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

    J. van Reeuwijk;M. Janssen;C. van der Elzen;D. Beltran Valero de Bernabe

  • Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

    L.A. Robak;L.A. Robak;I.E. Jansen;I.E. Jansen;J van Rooij;A.G. Uitterlinden

  • Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder

    Wilhelmina G. Leen;Joerg Klepper;Marcel M. Verbeek;Maike Leferink

  • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

    G. van der Steege;P.M. Grootscholten;P. van der Vlies;T.G. Draaijers

  • Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

    Suzanne Lesage;Valérie Drouet;Elisa Majounie;Vincent Deramecourt

  • A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases

    Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot

  • Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

    A. Beilina;I. N. Rudenko;A. Kaganovich;L. Civiero

  • Next-generation genetic testing for retinitis pigmentosa.

    Kornelia Neveling;Rob W.J. Collin;Christian Gilissen;Ramon A.C. van Huet

  • Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis

    B.P.C. van de Warrenburg;R.J. Sinke;C.C. Verschuuren-Bemelmans;H. Scheffer

  • Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

    Elisabeth Dequeker;Manfred Stuhrmann;Michael A Morris;Teresa Casals

  • Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

    Marcel F Jonkman;Hans Scheffer;Rein Stulp;Hendri H Pas

  • Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

    Konstantinos Nikopoulos;Christian Gilissen;Alexander Hoischen;C. Erik van Nouhuys

  • Association between angiotensin-converting-enzyme gene polymorphism and failure of renoprotective therapy

    G.G van Essen;P.L Rensma;D de Zeeuw;W.J Sluiter

  • DELETIONS OF THE SURVIVAL MOTOR-NEURON GENE IN UNAFFECTED SIBLINGS OF PATIENTS WITH SPINAL MUSCULAR-ATROPHY

    J. M. Cobben;G. Van Der Steege;P. Grootscholten;M. De Visser

  • Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

    David A. Koolen;Jamie M. Kramer;Kornelia Neveling;Willy M. Nillesen

  • Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

    Michael A. Van Es;Helenius J. Schelhaas;Paul W J Van Vught;Nicola Ticozzi;Nicola Ticozzi

  • Genome-wide association study confirms extant PD risk loci among the Dutch

    Javier Simón-Sánchez;Jacobus J van Hilten;Bart van de Warrenburg;Bart Post

Frequent Co-Authors

Charles H.C.M. Buys
Charles H.C.M. Buys University of Groningen
Barbara Franke
Barbara Franke Radboud University
Marcel F. Jonkman
Marcel F. Jonkman University Medical Center Groningen
Joris A. Veltman
Joris A. Veltman University of Edinburgh
Christian Gilissen
Christian Gilissen Radboud University
Kornelia Neveling
Kornelia Neveling Radboud University
Frans P.M. Cremers
Frans P.M. Cremers Radboud University
Han G. Brunner
Han G. Brunner Radboud University
Helger G. Yntema
Helger G. Yntema Radboud University

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