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Nature Communications|October 20, 2020
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologySahar Elouej, Karim Harhouri, Morgane Le Mao, et al.Neurogenetics|December 22, 2005
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's diseaseSilke Metzger, Peter Bauer, Juergen Tomiuk, et al.Frontiers in Pediatrics|May 31, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.Breast Cancer Research : BCR|January 26, 2018
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancerNana Weber-Lassalle, Jan Hauke, Juliane Ramser, et al.European Journal of Cancer (Oxford, England : 1990)|June 24, 2026
Spectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancerNatalie Herold, Christoph Engel, Dorothee Speiser, et al.Nature Communications|May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonismBjörn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.The Lancet. Neurology|March 20, 2018
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort studyAlhassane Diallo, Heike Jacobi, Arron Cook, et al.Acta Neuropathologica|August 1, 2024
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagyJonasz J Weber, Leah Czisch, Priscila Pereira Sena, et al.Brain : a Journal of Neurology|June 29, 2014
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesSophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, et al.Pageof 67