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Page 1
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Trost B, et al. Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. Cell. 2022. PMID: 36368308 Free PMC article.
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Ding Q, Somerville C, Manshaei R, Trost B, Reuter MS, Kalbfleisch K, Stanley K, Okello JBA, Hosseini SM, Liston E, Curtis M, Zarrei M, Higginbotham EJ, Chan AJS, Engchuan W, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK. Ding Q, et al. Among authors: trost b. Hum Genet. 2023 Feb;142(2):201-216. doi: 10.1007/s00439-022-02494-1. Epub 2022 Nov 14. Hum Genet. 2023. PMID: 36376761 Free PMC article.
Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies.
Murtaza N, Cheng AA, Brown CO, Meka DP, Hong S, Uy JA, El-Hajjar J, Pipko N, Unda BK, Schwanke B, Xing S, Thiruvahindrapuram B, Engchuan W, Trost B, Deneault E, Calderon de Anda F, Doble BW, Ellis J, Anagnostou E, Bader GD, Scherer SW, Lu Y, Singh KK. Murtaza N, et al. Among authors: trost b. Cell Rep. 2022 Nov 22;41(8):111678. doi: 10.1016/j.celrep.2022.111678. Cell Rep. 2022. PMID: 36417873 Free article.
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Zarrei M, Burton CL, Engchuan W, Higginbotham EJ, Wei J, Shaikh S, Roslin NM, MacDonald JR, Pellecchia G, Nalpathamkalam T, Lamoureux S, Manshaei R, Howe J, Trost B, Thiruvahindrapuram B, Marshall CR, Yuen RKC, Wintle RF, Strug LJ, Stavropoulos DJ, Vorstman JAS, Arnold P, Merico D, Woodbury-Smith M, Crosbie J, Schachar RJ, Scherer SW. Zarrei M, et al. Among authors: trost b. Hum Mol Genet. 2023 Jul 20;32(15):2411-2421. doi: 10.1093/hmg/ddad074. Hum Mol Genet. 2023. PMID: 37154571 Free PMC article.
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Abdi M, Aliyev E, Trost B, Kohailan M, Aamer W, Syed N, Shaath R, Gandhi GD, Engchuan W, Howe J, Thiruvahindrapuram B, Geng M, Whitney J, Syed A, Lakshmi J, Hussein S, Albashir N, Hussein A, Poggiolini I, Elhag SF, Palaniswamy S, Kambouris M, de Fatima Janjua M, Tahir MOE, Nazeer A, Shahwar D, Azeem MW, Mokrab Y, Aati NA, Akil A, Scherer SW, Kamal M, Fakhro KA. Abdi M, et al. Among authors: trost b. Genome Med. 2023 Oct 7;15(1):81. doi: 10.1186/s13073-023-01228-w. Genome Med. 2023. PMID: 37805537 Free PMC article.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW. Scala M, et al. Among authors: trost b. medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383. medRxiv. 2023. PMID: 38234782 Free PMC article. Preprint.
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
Mušálková D, Přistoupilová A, Jedličková I, Hartmannová H, Trešlová H, Nosková L, Hodaňová K, Bittmanová P, Stránecký V, Jiřička V, Langmajerová M, Woodbury-Smith M, Zarrei M, Trost B, Scherer SW, Bleyer AJ, Vevera J, Kmoch S. Mušálková D, et al. Among authors: trost b. Genes Brain Behav. 2024 Feb;23(1):e12882. doi: 10.1111/gbb.12882. Genes Brain Behav. 2024. PMID: 38359179 Free PMC article.
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.
Mitina A, Khan M, Lesurf R, Yin Y, Engchuan W, Hamdan O, Pellecchia G, Trost B, Backstrom I, Guo K, Pallotto LM, Lam Doong PH, Wang Z, Nalpathamkalam T, Thiruvahindrapuram B, Papaz T, Pearson CE, Ragoussis J, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Scherer SW, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S, Yuen RKC. Mitina A, et al. Among authors: trost b. EBioMedicine. 2024 Mar;101:105027. doi: 10.1016/j.ebiom.2024.105027. Epub 2024 Feb 27. EBioMedicine. 2024. PMID: 38418263 Free PMC article.
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghaffari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Dlamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW. Fehlings DL, et al. Among authors: trost b. Nat Genet. 2024 Apr;56(4):585-594. doi: 10.1038/s41588-024-01686-x. Epub 2024 Mar 29. Nat Genet. 2024. PMID: 38553553
540 results