NDPT020
96 WELL PLATE OF DNA SAMPLES
Description:
NEUROLOGICALLY NORMAL WHITE CONTROL PANEL
Aliquot Size:
5 µg each
Sex:
Males: 27 Females: 65
Brief Description:
This panel contains 5 micrograms of DNA from 92 unique and unrelated White individuals from North America without neurological disorders. Of these, 27 are males and 65 are females, with an age at collection ranging from 36-48 years. Data collected on these subjects consisted of Control Clinical Data Elements as outlined in the Coriell NINDS Genetics Repository guidelines. These data include a detailed medical and family history. None have a history of neurological illness in themselves, nor a first degree relative with a known primary neurological disorder. A more detailed description is also available.
Plate Layout:
The specific position on the plates has been optimized to reduce any possible errors in sample identity during the genotyping process.
| 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 |
| |
| 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 |
| |
| Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D, Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes European journal of human genetics : EJHG24:529-34 2015 |
| PubMed ID: 26130485 |
| |
| Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D, Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering American journal of human genetics97:715-25 2015 |
| PubMed ID: 26544806 |
| |
| 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 |
| |
| Cao L, Zheng L, Tang WG, Xiao Q, Zhang T, Tang HD, He SB, Wang XJ, Ding JQ, Chen SD, Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia
Movement Disorders25(6):747-52 2010 |
| PubMed ID: 20437540 |
| |
| Joyce van de Leemput, PhD,1,2,3
Fabienne Wavrant-De Vrie`ze, BA,1
Ian Rafferty, BA,1 Jose M. Bras, MS,1
Paola Giunti, MD,2 Elizabeth MC Fisher, PhD,3
John A. Hardy, PhD,2 Andrew B. Singleton, PhD,1*
and Henry Houlden, MD2, Sequencing Analysis of the ITPR1
Gene in a Pure Autosomal Dominant
Spinocerebellar Ataxia Series Movement Disorders25 (6):763-5 2010 |
| PubMed ID: 20437544 |
| |
| Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS., Novel THAP1 Sequence Variants in
Primary Dystonia Neurology74:229-38 2010 |
| PubMed ID: 20083799 |
| |
| Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ, A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis Human molecular genetics18:1524-32 2009 |
| PubMed ID: 19193627 |
| |
| Simón-Sánchez J, Singleton AB, Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls Human molecular genetics17:1988-93 2008 |
| PubMed ID: 18364387 |
|