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Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themesSabine A Fuchs, Imre F Schene, Gautam Kok, et al.
Human Molecular Genetics|October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changesNoelle Sterling, Anna R Duncan, Raehee Park, et al.
American Journal of Human Genetics|September 22, 2005
Diagnostic genome profiling in mental retardationBert B A de Vries, Rolph Pfundt, Martijn Leisink, et al.
Nature Medicine|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsAlexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, et al.
International Journal of Molecular Sciences|July 27, 2022
DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental SyndromeEline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, et al.
The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.
Frontiers in Genetics|January 23, 2024
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare diseaseAbderrahim Marouane, Kornelia Neveling, A Chantal Deden, et al.
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