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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. Among authors: wintle rf. Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. Cell. 2022. PMID: 36368308 Free PMC article.
A large data resource of genomic copy number variation across neurodevelopmental disorders.
Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW. Zarrei M, et al. Among authors: wintle rf. NPJ Genom Med. 2019 Oct 7;4:26. doi: 10.1038/s41525-019-0098-3. eCollection 2019. NPJ Genom Med. 2019. PMID: 31602316 Free PMC article.
Clinical actionability of genetic findings in cerebral palsy.
Lewis SA, Chopra M, Cohen JS, Bain J, Aravamuthan B, Carmel JB, Fahey MC, Segel R, Wintle RF, Zech M, May H, Haque N, Fehlings D, Srivastava S, Kruer MC. Lewis SA, et al. Among authors: wintle rf. medRxiv [Preprint]. 2023 Sep 11:2023.09.08.23295195. doi: 10.1101/2023.09.08.23295195. medRxiv. 2023. PMID: 37745357 Free PMC article. Preprint.
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: wintle rf. Nat Genet. 2024 Apr;56(4):585-594. doi: 10.1038/s41588-024-01686-x. Epub 2024 Mar 29. Nat Genet. 2024. PMID: 38553553
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
Shay JW, Homma N, Zhou R, Naseer MI, Chaudhary AG, Al-Qahtani M, Hirokawa N, Goudarzi M, Fornace AJ Jr, Baeesa S, Hussain D, Bangash M, Alghamdi F, Schulten HJ, Carracedo A, Khan I, Qashqari H, Madkhali N, Saka M, Saini KS, Jamal A, Al-Maghrabi J, Abuzenadah A, Chaudhary A, Al Qahtani M, Damanhouri G, Alkhatabi H, Goodeve A, Crookes L, Niksic N, Beauchamp N, Abuzenadah AM, Vaught J, Budowle B, Assidi M, Buhmeida A, Al-Maghrabi J, Buhmeida A, Assidi M, Merdad L, Kumar S, Miura S, Gomez K, Carracedo A, Rasool M, Rebai A, Karim S, Eldin HFN, Abusamra H, Alhathli EM, Salem N, Al-Qahtani MH, Kumar S, Faheem H, Agarwa A, Nieschlag E, Wistuba J, Damm OS, Beg MA, Abdel-Meguid TA, Mosli HA, Bajouh OS, Abuzenadah AM, Al-Qahtani MH, Coskun S, Abu-Elmagd M, Buhmeida A, Dallol A, Al-Maghrabi J, Hakamy S, Al-Qahtani W, Al-Harbi A, Hussain S, Assidi M, Al-Qahtani M, Abuzenadah A, Ozkosem B, DuBois R, Messaoudi SS, Dandana MT, Mahjoub T, Almawi WY, Abdalla S, Al-Aama MN, Elzawahry A, Takahashi T, Mimaki S, Furukawa E, Nakatsuka R, Kurosaka I, Nishigaki T, Nakamura H, Serada S, Naka T, Hirota S, Shibata T, Tsuchihara K, Nishida T, Kato M, Mehmood S, Ashraf NM, Asif A, Bilal M, Mehmood MS, Hussain … See abstract for full author list ➔ Shay JW, et al. Among authors: wintle rf. BMC Genomics. 2016 Jul 20;17 Suppl 6(Suppl 6):487. doi: 10.1186/s12864-016-2858-0. BMC Genomics. 2016. PMID: 27454254 Free PMC 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: wintle rf. Hum Mol Genet. 2023 Jul 20;32(15):2411-2421. doi: 10.1093/hmg/ddad074. Hum Mol Genet. 2023. PMID: 37154571 Free PMC article.
The development of the pediatric stroke neuroimaging platform (PEDSNIP).
Domi T, Robertson A, Lee W, Wintle RF, Stence N, Bernard T, Kirton A, Carlson H, Andrade A, Rafay MF, Bjornson B, Kim D, Dowling M, Bonnett W, Rivkin M, Krishnan P, Shroff M, Ertl-Wagner B, Strother S, Arnott S, Wintermark M, Kassner A, deVeber G, Dlamini N. Domi T, et al. Among authors: wintle rf. Neuroimage Clin. 2023;39:103438. doi: 10.1016/j.nicl.2023.103438. Epub 2023 May 19. Neuroimage Clin. 2023. PMID: 37354865 Free PMC article.
Mutational Landscape of Autism Spectrum Disorder Brain Tissue.
Woodbury-Smith M, Lamoureux S, Begum G, Nassir N, Akter H, O'Rielly DD, Rahman P, Wintle RF, Scherer SW, Uddin M. Woodbury-Smith M, et al. Among authors: wintle rf. Genes (Basel). 2022 Jan 24;13(2):207. doi: 10.3390/genes13020207. Genes (Basel). 2022. PMID: 35205252 Free PMC article.
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
MacLennan AH, Lewis S, Moreno-De-Luca A, Fahey M, Leventer RJ, McIntyre S, Ben-Pazi H, Corbett M, Wang X, Baynam G, Fehlings D, Kurian MA, Zhu C, Himmelmann K, Smithers-Sheedy H, Wilson Y, Ocaña CS, van Eyk C, Badawi N, Wintle RF, Jacobsson B, Amor DJ, Mallard C, Pérez-Jurado LA, Hallman M, Rosenbaum PJ, Kruer MC, Gecz J. MacLennan AH, et al. Among authors: wintle rf. J Child Neurol. 2019 Jul;34(8):472-476. doi: 10.1177/0883073819840449. Epub 2019 Apr 9. J Child Neurol. 2019. PMID: 30963790 Free PMC article. Review.
Cerebral palsy and genomics: an international consortium.
MacLennan AH, Kruer MC, Baynam G, Moreno-De-Luca A, Wilson YA, Zhu C, Wintle RF, Gecz J; members of the International Cerebral Palsy Genomics Consortium. MacLennan AH, et al. Among authors: wintle rf. Dev Med Child Neurol. 2018 Feb;60(2):209-210. doi: 10.1111/dmcn.13643. Dev Med Child Neurol. 2018. PMID: 29336076 Free article. No abstract available.
42 results