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Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder.
Lencz T, Guha S, Liu C, Rosenfeld J, Mukherjee S, DeRosse P, John M, Cheng L, Zhang C, Badner JA, Ikeda M, Iwata N, Cichon S, Rietschel M, Nöthen MM, Cheng AT, Hodgkinson C, Yuan Q, Kane JM, Lee AT, Pisanté A, Gregersen PK, Pe'er I, Malhotra AK, Goldman D, Darvasi A. Lencz T, et al. Among authors: rosenfeld j. Nat Commun. 2013;4:2739. doi: 10.1038/ncomms3739. Nat Commun. 2013. PMID: 24253340 Free PMC article.
Implication of a rare deletion at distal 16p11.2 in schizophrenia.
Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G; Molecular Genetics of Schizophrenia Consortium; Wellcome Trust Case Control Consortium 2. Guha S, et al. Among authors: rosenfeld ja. JAMA Psychiatry. 2013 Mar;70(3):253-60. doi: 10.1001/2013.jamapsychiatry.71. JAMA Psychiatry. 2013. PMID: 23325106 Free PMC article.
An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. Nature. 2012. PMID: 23128226 Free PMC article.
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.
Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C; 1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. Colonna V, et al. Genome Biol. 2014 Jun 30;15(6):R88. doi: 10.1186/gb-2014-15-6-r88. Genome Biol. 2014. PMID: 24980144 Free PMC article.
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüş ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium; Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Khurana E, et al. Among authors: rosenfeld ja. Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587. Science. 2013. PMID: 24092746 Free PMC article.
Genetic vulnerability and adverse mental health outcomes following mild traumatic brain injury: a meta-analysis of CENTER-TBI and TRACK-TBI cohorts.
Kals M, Wilson L, Levey DF, Parodi L, Steyerberg EW, Richardson S, He F, Sun X, Jain S, Palotie A, Ripatti S, Rosand J, Manley GT, Maas AIR, Stein MB, Menon DK; Genetic Associations In Neurotrauma (GAIN) Consortium (with contribution from the CENTER-TBI and TRACK-TBI studies). Kals M, et al. EClinicalMedicine. 2024 Dec 5;78:102956. doi: 10.1016/j.eclinm.2024.102956. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39720422 Free PMC article.
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.
Kalanithy JC, Mingardo E, Stegmann JD, Dhakar R, Dakal TC, Rosenfeld JA, Tan WH, Coury SA, Woerner AC, Sebastian J, Levy PA, Fleming LR, Waffenschmidt L, Lindenberg TT, Yilmaz Ö, Channab K, Babra BK, Christ A, Eiberger B, Hölzel S, Vidic C, Häberlein F, Ishorst N, Rodriguez-Gatica JE, Pezeshkpoor B, Kupczyk PA, Vanakker OM, Loddo S, Novelli A, Dentici ML, Becker A, Thiele H, Posey JE, Lupski JR, Hilger AC, Reutter HM, Merz WM, Dworschak GC, Odermatt B. Kalanithy JC, et al. Among authors: rosenfeld ja. J Med Genet. 2024 Dec 23:jmg-2023-109799. doi: 10.1136/jmg-2023-109799. Online ahead of print. J Med Genet. 2024. PMID: 39715634 Free article.
1,761 results