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American Journal of Human Genetics|August 28, 2010
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Mark A Corbett, Melanie Bahlo, Lachlan Jolly, et al.
Human Genetics|April 12, 2008
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesLane J Jaeckle Santos, Chao Xing, Robert B Barnes, et al.
European Journal of Medical Genetics|November 6, 2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHLudmila Kousoulidou, Sven Parkel, Olga Zilina, et al.
The Journal of Clinical Investigation|April 9, 2013
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signalingPetro Starokadomskyy, Nathan Gluck, Haiying Li, et al.
Annals of Neurology|March 4, 2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsIngrid E Scheffer, Sarah E Heron, Brigid M Regan, et al.
American Heart Journal|October 20, 2021
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genesGillian M Blue, Mauk Mekel, Debjani Das, et al.
Human Molecular Genetics|November 7, 2019
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disordersLoredana Poeta, Agnese Padula, Benedetta Attianese, et al.
NPJ Genomic Medicine|December 20, 2018
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsyMark A Corbett, Clare L van Eyk, Dani L Webber, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersRose White, Gladys Ho, Swetlana Schmidt, et al.
NPJ Genomic Medicine|June 25, 2019
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsyMark A Corbett, Clare L van Eyk, Dani L Webber, et al.
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