Description:
NEUROLOGICALLY NORMAL CAUCASIAN CONTROL PANEL
POPULATION/CONVENIENCE CONTROL
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Estrada K, Whelan CW, Zhao F, Bronson P, Handsaker RE, Sun C, Carulli JP, Harris T, Ransohoff RM, McCarroll SA, Day-Williams AG, Greenberg BM, MacArthur DG, A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica Nature communications9:1929 2018 |
PubMed ID: 29769526 |
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Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R, Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity Genetics in medicine : official journal of the American College of Medical Genetics9:1929 2017 |
PubMed ID: 28771248 |
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Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D, MKS1 regulates ciliary INPP5E levels in Joubert syndrome Journal of medical genetics53:62-72 2015 |
PubMed ID: 26490104 |
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Vester A, Velez-Ruiz G, McLaughlin HM, NISC Comparative Sequencing Program HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A, A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo Human mutation34:191-9 2012 |
PubMed ID: 22930593 |
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Lee T, Li YR, Chesi A, Hart MP, Ramos D, Jethava N, Hosangadi D, Epstein J, Hodges B, Bonini NM, Gitler AD, Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis Neurology76:2062-5 2011 |
PubMed ID: 21562248 |
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