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Page 1
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Zariwala MA, et al. Among authors: lori a. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20. Am J Respir Crit Care Med. 2006. PMID: 16858015 Free PMC article.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: lori a. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
Systems biology dissection of PTSD and MDD across brain regions, cell types, and blood.
Daskalakis NP, Iatrou A, Chatzinakos C, Jajoo A, Snijders C, Wylie D, DiPietro CP, Tsatsani I, Chen CY, Pernia CD, Soliva-Estruch M, Arasappan D, Bharadwaj RA, Collado-Torres L, Wuchty S, Alvarez VE, Dammer EB, Deep-Soboslay A, Duong DM, Eagles N, Huber BR, Huuki L, Holstein VL, Logue MW, Lugenbühl JF, Maihofer AX, Miller MW, Nievergelt CM, Pertea G, Ross D, Sendi MSE, Sun BB, Tao R, Tooke J, Wolf EJ, Zeier Z; PTSD Working Group of Psychiatric Genomics Consortium**; Berretta S, Champagne FA, Hyde T, Seyfried NT, Shin JH, Weinberger DR, Nemeroff CB, Kleinman JE, Ressler KJ; PTSD Working Group of Psychiatric Genomics Consortium. Daskalakis NP, et al. Science. 2024 May 24;384(6698):eadh3707. doi: 10.1126/science.adh3707. Epub 2024 May 24. Science. 2024. PMID: 38781393
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.
Liu D, Meyer D, Fennessy B, Feng C, Cheng E, Johnson JS, Park YJ, Rieder MK, Ascolillo S, de Pins A, Dobbyn A, Lebovitch D, Moya E, Nguyen TH, Wilkins L, Hassan A; Psychiatric Genomics Consortium Phase 3 Targeted Sequencing of Schizophrenia Study Team; Burdick KE, Buxbaum JD, Domenici E, Frangou S, Hartmann AM, Laurent-Levinson C, Malhotra D, Pato CN, Pato MT, Ressler K, Roussos P, Rujescu D, Arango C, Bertolino A, Blasi G, Bocchio-Chiavetto L, Campion D, Carr V, Fullerton JM, Gennarelli M, González-Peñas J, Levinson DF, Mowry B, Nimgaokar VL, Pergola G, Rampino A, Cervilla JA, Rivera M, Schwab SG, Wildenauer DB, Daly M, Neale B, Singh T, O'Donovan MC, Owen MJ, Walters JT, Ayub M, Malhotra AK, Lencz T, Sullivan PF, Sklar P, Stahl EA, Huckins LM, Charney AW. Liu D, et al. Nat Genet. 2023 Mar;55(3):369-376. doi: 10.1038/s41588-023-01305-1. Epub 2023 Mar 13. Nat Genet. 2023. PMID: 36914870 Free PMC article.
The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study.
Wendt FR, Garcia-Argibay M, Cabrera-Mendoza B, Valdimarsdóttir UA, Gelernter J, Stein MB, Nivard MG, Maihofer AX; Post-Traumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium; Nievergelt CM, Larsson H, Mattheisen M, Polimanti R, Meier SM. Wendt FR, et al. Biol Psychiatry. 2023 Feb 15;93(4):362-369. doi: 10.1016/j.biopsych.2022.08.012. Epub 2022 Aug 24. Biol Psychiatry. 2023. PMID: 36335070 Free PMC article.
Identification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans.
Kimbrel NA, Ashley-Koch AE, Qin XJ, Lindquist JH, Garrett ME, Dennis MF, Hair LP, Huffman JE, Jacobson DA, Madduri RK, Trafton JA, Coon H, Docherty AR, Mullins N, Ruderfer DM, Harvey PD, McMahon BH, Oslin DW, Beckham JC, Hauser ER, Hauser MA; Million Veteran Program Suicide Exemplar Workgroup, the International Suicide Genetics Consortium, the Veterans Affairs Mid-Atlantic Mental Illness Research, Education, and Clinical Center Workgroup, and the Veterans Affairs Million Veteran Program. Kimbrel NA, et al. JAMA Psychiatry. 2023 Feb 1;80(2):135-145. doi: 10.1001/jamapsychiatry.2022.3896. JAMA Psychiatry. 2023. PMID: 36515925 Free PMC article.
117 results