Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Hufnagel RB, et al. Among authors: jaworek tj. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. J Med Genet. 2015. PMID: 25480986 Free PMC article.
Exome Array Analysis of Early-Onset Ischemic Stroke.
Jaworek T, Ryan KA, Gaynor BJ, McArdle PF, Stine OC, OConnor TD, Lopez H, Aparicio HJ, Gao Y, Lin X, Groves ML, Flaherty ML, Liu S, Yang Q, Wilson J, Seshadri S, Kittner SJ, Mitchell BD, Xu H, Cole JW. Jaworek T, et al. Stroke. 2020 Nov;51(11):3356-3360. doi: 10.1161/STROKEAHA.120.031357. Epub 2020 Sep 11. Stroke. 2020. PMID: 32912094 Free PMC article.
Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.
Cole JW, Xu H, Ryan K, Jaworek T, Dueker N, McArdle P, Gaynor B, Cheng YC, O'Connell J, Bevan S, Malik R, Ahmed NU, Amouyel P, Anjum S, Bis JC, Crosslin D, Danesh J, Engelter ST, Fornage M, Frossard P, Gieger C, Giese AK, Grond-Ginsbach C, Ho WK, Holliday E, Hopewell J, Hussain M, Iqbal W, Jabeen S, Jannes J, Kamal A, Kamatani Y, Kanse S, Kloss M, Lathrop M, Leys D, Lindgren A, Longstreth WT Jr, Mahmood K, Meisinger C, Metso TM, Mosley T Jr, Müller-Nurasyid M, Norrving B, Parati E, Peters A, Pezzini A, Quereshi I, Rasheed A, Rauf A, Salam T, Shen J, Słowik A, Stanne T, Strauch K, Tatlisumak T, Thijs VN, Tiedt S, Traylor M, Waldenberger M, Walters M, Zhao W, Boncoraglio G, Debette S, Jern C, Levi C, Markus H, Meschia J, Rolfs A, Rothwell P, Saleheen D, Seshadri S, Sharma P, Sudlow C, Worrall B; METASTROKE Consortium of the ISGC; WTCCC-2 Consortium; Stine OC, Kittner SJ, Mitchell BD. Cole JW, et al. PLoS One. 2018 Nov 1;13(11):e0206554. doi: 10.1371/journal.pone.0206554. eCollection 2018. PLoS One. 2018. PMID: 30383853 Free PMC article.
Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke.
Jaworek T, Xu H, Gaynor BJ, Cole JW, Rannikmae K, Stanne TM, Tomppo L, Abedi V, Amouyel P, Armstrong ND, Attia J, Bell S, Benavente OR, Boncoraglio GB, Butterworth A; Cervical Artery Dissections and Ischemic Stroke Patients (CADSIP) Consortium; Carcel-Marquez J, Chen Z, Chong M, Cruchaga C, Cushman M, Danesh J, Debette S, Duggan DJ, Durda JP, Engstrom G, Enzinger C, Faul JD, Fecteau NS, Fernandez-Cadenas I, Gieger C, Giese AK, Grewal RP, Grittner U, Havulinna AS, Heitsch L, Hochberg MC, Holliday E, Hu J, Ilinca A; INVENT Consortium; Irvin MR, Jackson RD, Jacob MA, Rabionet R, Jimenez-Conde J, Johnson JA, Kamatani Y, Kardia SLR, Koido M, Kubo M, Lange L, Lee JM, Lemmens R, Levi CR, Li J, Li L, Lin K, Lopez H, Luke S, Maguire J, McArdle PF, McDonough CW, Meschia JF, Metso T, Müller-Nurasyid M, O'Connor TD, O'Donnell M, Peddareddygari LR, Pera J, Perry JA, Peters A, Putaala J, Ray D, Rexrode K, Ribases M, Rosand J, Rothwell PM, Rundek T, Ryan KA, Sacco RL, Salomaa V, Sanchez-Mora C, Schmidt R, Sharma P, Slowik A, Smith JA, Smith NL, Wassertheil-Smoller S, Söderholm M, Stine OC, Strbian D, Sudlow CLM, Tatlisumak T, Terao C, Thijs V, Torres-Aguila NP, Trégouët DA, Tuladhar AM, Veldink … See abstract for full author list ➔ Jaworek T, et al. Neurology. 2022 Oct 17;99(16):e1738-e1754. doi: 10.1212/WNL.0000000000201006. Neurology. 2022. PMID: 36240095 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
11 results