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American Journal of Human Genetics|December 3, 2014
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, et al.Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.American Journal of Human Genetics|April 2, 2019
Truncating Mutations in UBAP1 Cause Hereditary Spastic ParaplegiaMohammad Ali Farazi Fard, Adriana P Rebelo, Elena Buglo, et al.Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing HeritabilityIlaria Quartesan, Stefano Facchini, Arianna Manini, et al.Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Population-scale Long-read Sequencing in the <i>All of Us</i> Research ProgramKiran V Garimella, Qiuhui Li, Julie Wertz, et al.Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.Pageof 15