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Page 1
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Among authors: sadedin s. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Melbourne Genomics Health Alliance, Gaff C, White SM. Stark Z, et al. Among authors: sadedin s. Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3. Genet Med. 2016. PMID: 26938784 Free article.
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, Thorne NP, Sadedin S, Georgeson P, Phelan DG, Day T, Taylor JA, Sexton A, Lockhart PJ, Kiers L, Fahey M, Macciocca I, Gaff CL, Oshlack A, Yiu EM, James PA, Stark Z, Ryan MM; Melbourne Genomics Health Alliance. Walsh M, et al. Among authors: sadedin s. Ann Clin Transl Neurol. 2017 Apr 26;4(5):318-325. doi: 10.1002/acn3.409. eCollection 2017 May. Ann Clin Transl Neurol. 2017. PMID: 28491899 Free PMC article.
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM. Tan TY, et al. Among authors: sadedin s. JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755. JAMA Pediatr. 2017. PMID: 28759686 Free PMC article.
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.
Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, Thorne N, Macciocca I, Gaff C; Melbourne Genomics Health Alliance; Oshlack A, White SM, James PA. Stark Z, et al. Among authors: sadedin s. Eur J Hum Genet. 2017 Nov;25(11):1268-1272. doi: 10.1038/ejhg.2017.123. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832562 Free PMC article.
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study; Balasubramanian M. Yates TM, et al. Among authors: sadedin s. Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25. Am J Med Genet A. 2017. PMID: 28944577 Free PMC article.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S; Broad CMG; Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J. Kumar R, et al. Among authors: sadedin s. Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557. Epub 2018 Jun 14. Hum Mutat. 2018. PMID: 29851191 Free PMC article.
SYT1-associated neurodevelopmental disorder: a case series.
Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; Broad Center for Mendelian Genomics; Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL. Baker K, et al. Among authors: sadedin s. Brain. 2018 Sep 1;141(9):2576-2591. doi: 10.1093/brain/awy209. Brain. 2018. PMID: 30107533 Free PMC article.
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. Costain G, et al. Among authors: sadedin s. Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293988 Free article.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: sadedin s. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587
42 results