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Therapeutic Advances in Rare Disease|July 31, 2024
Koolen-de Vries Syndrome: a journey from diagnosis to treatmentsAnna C Pfalzer, Blake Ivers, Alayna Haynam, et al.
Human Mutation|December 17, 2008
Genomic microarrays in mental retardation: a practical workflow for diagnostic applicationsDavid A Koolen, Rolph Pfundt, Nicole de Leeuw, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilitiesKarlijn Vermeulen, Anneke de Boer, Joost G E Janzing, et al.
Genetics in Medicine Open|December 13, 2024
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndromeFlorent Colin, Pauline Burger, Timothée Mazzucotelli, et al.
Journal of Medical Genetics|September 8, 2016
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndromeAnna Schossig, Agnès Bloch-Zupan, Adrian Lussi, et al.
Human Mutation|January 12, 2017
Quantification of Phenotype Information Aids the Identification of Novel Disease GenesAnneke T Vulto-van Silfhout, Christian Gilissen, Jelle J Goeman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disordersRoos van der Donk, Sandra Jansen, Janneke H M Schuurs-Hoeijmakers, et al.
European Journal of Human Genetics : EJHG|June 30, 2005
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationDavid A Koolen, William Reardon, Elisabeth M Rosser, et al.
European Journal of Human Genetics : EJHG|February 2, 2012
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicismDavid A Koolen, Juliette Dupont, Nicole de Leeuw, et al.
American Journal of Human Genetics|April 10, 2012
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencingAndy Itsara, Lisenka E L M Vissers, Karyn Meltz Steinberg, et al.
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