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Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
Nature|April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
Medrxiv : the Preprint Server for Health Sciences|December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDERWallid Deb, Thomas Besnard, Florence Desprez, et al.
American Journal of Human Genetics|September 28, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish populationTadahiro Mitani, Sedat Isikay, Alper Gezdirici, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor betaVéronique Caron, Nicolas Chassaing, Nicola Ragge, et al.
The Journal of Clinical Investigation|June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
American Journal of Human Genetics|April 23, 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Laura Harrold, Daniel G Calame, et al.
American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.
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