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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: stein d. J Exp Med. 2024 Jun 3;221(6):e20232387. doi: 10.1084/jem.20232387. Epub 2024 Apr 2. J Exp Med. 2024. PMID: 38563820
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Sevim Bayrak C, Stein D, Jain A, Chaudhary K, Nadkarni GN, Van Vleck TT, Puel A, Boisson-Dupuis S, Okada S, Stenson PD, Cooper DN, Schlessinger A, Itan Y. Sevim Bayrak C, et al. Among authors: stein d. Am J Hum Genet. 2021 Dec 2;108(12):2301-2318. doi: 10.1016/j.ajhg.2021.10.007. Epub 2021 Nov 10. Am J Hum Genet. 2021. PMID: 34762822 Free PMC article.
Principal component analysis as an efficient method for capturing multivariate brain signatures of complex disorders-ENIGMA study in people with bipolar disorders and obesity.
McWhinney SR, Hlinka J, Bakstein E, Dietze LMF, Corkum ELV, Abé C, Alda M, Alexander N, Benedetti F, Berk M, Bøen E, Bonnekoh LM, Boye B, Brosch K, Canales-Rodríguez EJ, Cannon DM, Dannlowski U, Demro C, Diaz-Zuluaga A, Elvsåshagen T, Eyler LT, Fortea L, Fullerton JM, Goltermann J, Gotlib IH, Grotegerd D, Haarman B, Hahn T, Howells FM, Jamalabadi H, Jansen A, Kircher T, Klahn AL, Kuplicki R, Lahud E, Landén M, Leehr EJ, Lopez-Jaramillo C, Mackey S, Malt U, Martyn F, Mazza E, McDonald C, McPhilemy G, Meier S, Meinert S, Melloni E, Mitchell PB, Nabulsi L, Nenadić I, Nitsch R, Opel N, Ophoff RA, Ortuño M, Overs BJ, Pineda-Zapata J, Pomarol-Clotet E, Radua J, Repple J, Roberts G, Rodriguez-Cano E, Sacchet MD, Salvador R, Savitz J, Scheffler F, Schofield PR, Schürmeyer N, Shen C, Sim K, Sponheim SR, Stein DJ, Stein F, Straube B, Suo C, Temmingh H, Teutenberg L, Thomas-Odenthal F, Thomopoulos SI, Urosevic S, Usemann P, van Haren NEM, Vargas C, Vieta E, Vilajosana E, Vreeker A, Winter NR, Yatham LN, Thompson PM, Andreassen OA, Ching CRK, Hajek T. McWhinney SR, et al. Among authors: stein dj. Hum Brain Mapp. 2024 Jun 1;45(8):e26682. doi: 10.1002/hbm.26682. Hum Brain Mapp. 2024. PMID: 38825977
Maternal age is related to offspring DNA methylation: A meta-analysis of results from the PACE consortium.
Yeung E, Biedrzycki RJ, Gómez Herrera LC, Issarapu P, Dou J, Marques IF, Mansuri SR, Page CM, Harbs J, Khodasevich D, Poisel E, Niu Z, Allard C, Casey E, Berstein FM, Mancano G, Elliott HR, Richmond R, He Y, Ronkainen J, Sebert S, Bell EM, Sharp G, Mumford SL, Schisterman EF, Chandak GR, Fall CHD, Sahariah SA, Silver MJ, Prentice AM, Bouchard L, Domellof M, West C, Holland N, Cardenas A, Eskenazi B, Zillich L, Witt SH, Send T, Breton C, Bakulski KM, Fallin MD, Schmidt RJ, Stein DJ, Zar HJ, Jaddoe VWV, Wright J, Grazuleviciene R, Gutzkow KB, Sunyer J, Huels A, Vrijheid M, Harlid S, London S, Hivert MF, Felix J, Bustamante M, Guan W. Yeung E, et al. Among authors: stein dj. Aging Cell. 2024 May 29:e14194. doi: 10.1111/acel.14194. Online ahead of print. Aging Cell. 2024. PMID: 38808605 Free article.
3,751 results