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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsElisabeth Bosch, Bernt Popp, Esther Güse, et al.Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.Brain : a Journal of Neurology|November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersRauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.The Journal of Clinical Investigation|October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathyNatalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.Nature Communications|July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Christine L Dixon, Hui Guo, et al.Pageof 28