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Molecular Genetics and Metabolism|February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyFrancesco Gavazzi, Brittany Charsar, Eline Hamilton, et al.Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, 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.Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.Biorxiv : the Preprint Server for Biology|April 28, 2025
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscapeHope A Tanudisastro, Anna S E Cuomo, Ben Weisburd, et al.Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.Pageof 12