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Brain : a Journal of Neurology|January 13, 2024
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeStephanie Efthymiou, Marcello Scala, Vini Nagaraj, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
Human Genetics|June 27, 2016
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continentsDenise Yan, Demet Tekin, Guney Bademci, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.
American Journal of Medical Genetics. Part A|August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndromeSandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
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