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CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Aspromonte MC, Conte AD, Zhu S, Tan W, Shen Y, Zhang Y, Li Q, Wang MH, Babbi G, Bovo S, Martelli PL, Casadio R, Althagafi A, Toonsi S, Kulmanov M, Hoehndorf R, Katsonis P, Williams A, Lichtarge O, Xian S, Surento W, Pejaver V, Mooney SD, Sunderam U, Srinivasan R, Murgia A, Piovesan D, Tosatto SCE, Leonardi E. Aspromonte MC, et al. Among authors: althagafi a. Res Sq [Preprint]. 2023 Aug 2:rs.3.rs-3209168. doi: 10.21203/rs.3.rs-3209168/v1. Res Sq. 2023. PMID: 37577579 Free PMC article. Preprint.
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Aloraini T, Abdelhakim M, Althagafi AT, Kafkas S, Alsubaie L, Alrifai MT, Hoehndorf R, Alfares A, Alfadhel M. Umair M, et al. Among authors: althagafi at. Clin Genet. 2020 Dec;98(6):555-561. doi: 10.1111/cge.13842. Epub 2020 Sep 15. Clin Genet. 2020. PMID: 32869858 Free PMC article.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL, O'Leary M, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson M, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: althagafi a. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. PMID: 37577678 Free PMC article. Updated. Preprint.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: althagafi a. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A, Alsubaie L, Aloraini T, Alaskar A, Althagafi A, Alahmad A, Rashid M, Alswaid A, Alothaim A, Eyaid W, Ababneh F, Albalwi M, Alotaibi R, Almutairi M, Altharawi N, Alsamer A, Abdelhakim M, Kafkas S, Mineta K, Cheung N, Abdallah AM, Büchmann-Møller S, Fukasawa Y, Zhao X, Rajan I, Hoehndorf R, Al Mutairi F, Gojobori T, Alfadhel M. Alfares A, et al. Among authors: althagafi a. BMC Med Genomics. 2020 Jul 17;13(1):103. doi: 10.1186/s12920-020-00743-8. BMC Med Genomics. 2020. PMID: 32680510 Free PMC article.
Pre-operative expectations of patients with degenerative cervical myelopathy: an observational study from the Canadian Spine Outcomes and Research Network.
Althagafi A, Dea N, Evaniew N, Rampersaud RY, Jacobs WB, Paquet J, Wilson JR, Hall H, Bailey CS, Weber MH, Nataraj A, Attabib N, Cadotte DW, Phan P, Christie SD, Fisher CG, Manson N, Thomas K, McIntosh G, Charest-Morin R. Althagafi A, et al. Spine J. 2024 Apr 26:S1529-9430(24)00186-4. doi: 10.1016/j.spinee.2024.04.027. Online ahead of print. Spine J. 2024. PMID: 38679073 Free article.
46 results