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The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. Helbig I, et al. Among authors: sadikovic b. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. Hum Mutat. 2018. PMID: 30311377 Free PMC article.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, Robinson PN, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T. Forwood C, et al. Among authors: sadikovic b. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32056. doi: 10.1002/ajmg.c.32056. Epub 2023 Aug 31. Am J Med Genet C Semin Med Genet. 2023. PMID: 37654076 Free PMC article.
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Delanne J, Jean-Marçais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poë C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF, Vitobello A. Colin E, et al. Among authors: sadikovic b. Front Cell Dev Biol. 2022 Oct 28;10:1021785. doi: 10.3389/fcell.2022.1021785. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36393831 Free PMC article.
A Rational Approach to JAK2 Mutation Testing in Patients with Elevated Hemoglobin: Results from the JAK2 Prediction Cohort (JAKPOT) Study.
Chin-Yee B, Bhai P, Cheong I, Matyashin M, Hsia CC, Kawata E, Ho JM, Levy MA, Stuart A, Lin H, Chin-Yee I, Kadour M, Sadikovic B, Lazo-Langner A. Chin-Yee B, et al. Among authors: sadikovic b. J Gen Intern Med. 2023 Jun;38(8):1828-1833. doi: 10.1007/s11606-022-07963-x. Epub 2022 Nov 30. J Gen Intern Med. 2023. PMID: 36451015 Clinical Trial.
Mutation Update for UBE3A variants in Angelman syndrome.
Sadikovic B, Fernandes P, Zhang VW, Ward PA, Miloslavskaya I, Rhead W, Rosenbaum R, Gin R, Roa B, Fang P. Sadikovic B, et al. Hum Mutat. 2014 Dec;35(12):1407-17. doi: 10.1002/humu.22687. Hum Mutat. 2014. PMID: 25212744
Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.
Levy MA, Santos S, Kerkhof J, Stuart A, Aref-Eshghi E, Guo F, Hedley B, Wong H, Rauh M, Feilotter H, Berardi P, Semenuk L, Yang P, Knoll J, Ainsworth P, McLachlin CM, Chin-Yee I, Kovacs M, Deotare U, Lazo-Langner A, Hsia C, Keeney M, Xenocostas A, Howlett C, Lin H, Sadikovic B. Levy MA, et al. Among authors: sadikovic b. Eur J Haematol. 2019 Sep;103(3):178-189. doi: 10.1111/ejh.13272. Epub 2019 Jul 30. Eur J Haematol. 2019. PMID: 31177553
Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.
Dyment DA, Prasad AN, Boycott KM, Ediae GU, Hartley T, Hassan A, Muir KE, Potter M, Boisse Lomax L, Jarinova O, Sadikovic B, Stavropoulos DJ, Snead OC. Dyment DA, et al. Among authors: sadikovic b. Can J Neurol Sci. 2020 Jan;47(1):61-68. doi: 10.1017/cjn.2019.304. Epub 2019 Oct 30. Can J Neurol Sci. 2020. PMID: 31587668
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: sadikovic b. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
181 results