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Nature Genetics|September 1, 1997
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansionG David, N Abbas, G Stevanin, et al.Human Molecular Genetics|December 1, 1996
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxiasG Stevanin, Y Trottier, G Cancel, et al.Journal of Medical Internet Research|March 7, 2025
Opportunities and Challenges in Using Electronic Health Record Systems to Study Postacute Sequelae of SARS-CoV-2 Infection: Insights From the NIH RECOVER InitiativeHannah L Mandel, Shruti N Shah, L Charles Bailey, et al.Annals of Neurology|February 16, 1999
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotesM Cossée, A Dürr, M Schmitt, et al.Human Molecular Genetics|May 1, 1997
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 familiesG Cancel, A Dürr, O Didierjean, et al.Science (New York, N.Y.)|March 8, 1996
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansionV Campuzano, L Montermini, M D Moltò, et al.Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.Sleep|May 11, 2023
Risk of post-acute sequelae of SARS-CoV-2 infection associated with pre-coronavirus disease obstructive sleep apnea diagnoses: an electronic health record-based analysis from the RECOVER initiativeHannah L Mandel, Gunnar Colleen, Sajjad Abedian, et al.Nature|February 5, 2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2R G Walters, S Jacquemont, A Valsesia, et al.Pageof 31