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Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structureAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.
The Journal of Biological Chemistry|July 6, 2023
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulationAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.
The Journal of Clinical Investigation|December 1, 2022
Nociception and pain in humans lacking a functional TRPV1 channelBen Katz, Rachel Zaguri, Simon Edvardson, et al.
Journal of the American Academy of Dermatology|April 16, 2008
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestationsVered Molho-Pessach, Ziad Agha, Suhail Aamar, et al.
American Journal of Human Genetics|January 1, 2019
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to ThriveSimon Edvardson, Claudia M Nicolae, Grace J Noh, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationshipRonen Spiegel, Hanna Mandel, Ann Saada, et al.
Neurogenetics|April 21, 2015
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegenerationNadirah Damseh, Chris M Danson, Motee Al-Ashhab, et al.
Clinical Genetics|September 27, 2025
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical DiagnosticsRivka Birnbaum, Maya Slovik, Shamir Zenvirt, et al.
Neurogenetics|July 26, 2018
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelinationTamar Harel, Debra Q Y Quek, Bernice H Wong, et al.
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