Donders Institute for Brain, Cognition and Behaviour
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Theme 2: Perception, Action and Control

Clinical Molecular Genetics of Heterogeneous Genetic Disorders

Donders Institute for Brain, Cognition and BehaviourMain fields of research:

  • Development of new molecular genetic approaches, including novel analytical techniques and new approaches for data analysis and interpretation,
  • The molecular genetics of neurogenetic disorders, and
  • Pharmacogenetics

The molecular research focuses on the development of novel techniques, e.g. the application of next generation sequencing (NGS) techniques in research and diagnostics, in particular of neurogenetic disorders. These activities will be centred around NGS techniques including automated data analysis/interpretation in molecular research and DNA diagnostics are developed, validated and implemented.

Contact
Name:

Hans Scheffer

Telephone: 024-3613799
Email: H.Scheffer@radboudumc.nl
Fax: 024-3616658
Visiting address: Department of Human Genetics, Division Genome Diagnostics
Radboud University Nijmegen Medical Centre / HP 848
Geert Grooteplein Zuid 10
6525 GA Nijmegen
The Netherlands
Postal address: Department of Human Genetics, Division Genome Diagnostics
Radboud University Nijmegen Medical Centre
P.O. Box 9101
6500 HB Nijmegen
The Netherlands



Key grants and prizes
  • FP7 Collaborative Project TECHGENE (Grant agreement no.: 223143
  • FP7 Marie Curie Fellowship CRANIOTECHGENE (Grant agreement no.: 221048)
  • FP6 Eurogentest
  • FP7 Eurogentest
Key publications
  • Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.
    Mattocks CJ, Watkins G, Ward D, Janssens T, Bosgoed EA, van der Donk K, Ligtenberg MJ, Pot B, Theelen J, Cross NC, Scheffer H, Matthijs G. Clin Chem.
    2010 Apr;56(4):593-602. Epub 2010 Feb 18. PMID: 20167696 (IP2009: 6.26; highest ranked journal in field clinical laboratory science)
  • Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
    Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Brain.
    2010 Mar;133(Pt 3):655-70. Epub 2010 Feb 2.
  • Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
    Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Am J Hum Genet. 2010 Dec 10;87(6):813-9. Epub
    2010 Nov 18. PMID: 21092923 (IF2010: 12.3)
  • Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability.
    de Ligt J, Willemsen MH, van Bon, BWM, Kleefstra T, Yntema, HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries, BBA, Brunner HG, Veltman JA and Vissers LE,
    New England Journal of Medicine 367: 1921-1929 Published: NOV 15 2012 DOI: 10.1056/NEJMoa1206524
  • Next-generation genetic testing for retinitis pigmentosa. Neveling
    K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. PMID: 22334370

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Theme 2:
Perception, Action and Decision-making

Donders
Research Group
Clinical Molecular Genetics of Heterogeneous Genetic Disorders


Associate Principal Investigator
Dr. H. Scheffer

Group members

Scientific staff
Kornelia Neveling

PhD
Elske Kuipers