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Page 1
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Salama Y, Albanyan S, Szybowska M, Bullivant G, Gallinger B, Giles RH, Asa S, Badduke C, Chiorean A, Druker H, Ezzat S, Hannah-Shmouni F, Hernandez KG, Inglese C, Jani P, Kaur Y, Krema H, Krimus L, Laperriere N, Lichner Z, Mete O, Sit M, Zadeh G, Jewett MAS, Malkin D, Stockley T, Wasserman JD, Xu W, Schachter NF, Kim RH. Salama Y, et al. Among authors: szybowska m. Clin Genet. 2019 Nov;96(5):461-467. doi: 10.1111/cge.13613. Epub 2019 Aug 6. Clin Genet. 2019. PMID: 31368132
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB. Zarate YA, et al. Among authors: szybowska m. Clin Genet. 2017 Oct;92(4):423-429. doi: 10.1111/cge.12982. Epub 2017 Mar 7. Clin Genet. 2017. PMID: 28139846
Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion.
Alharbi N, Asa SL, Szybowska M, Kim RH, Ezzat S. Alharbi N, et al. Among authors: szybowska m. Front Endocrinol (Lausanne). 2018 Nov 1;9:641. doi: 10.3389/fendo.2018.00641. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 30455668 Free PMC article.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J. Shickh S, et al. Among authors: szybowska m. J Med Genet. 2021 Apr;58(4):275-283. doi: 10.1136/jmedgenet-2020-106936. Epub 2020 Jun 24. J Med Genet. 2021. PMID: 32581083 Free PMC article.
Germline whole genome sequencing in adults with multiple primary tumors.
Wang Y, Ding Q, Prokopec S, Farncombe KM, Bruce J, Casalino S, McCuaig J, Szybowska M, van Engelen K, Lerner-Ellis J, Pugh TJ, Kim RH. Wang Y, et al. Among authors: szybowska m. Fam Cancer. 2023 Oct;22(4):513-520. doi: 10.1007/s10689-023-00343-2. Epub 2023 Jul 22. Fam Cancer. 2023. PMID: 37481477
Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.
Ingley KM, Zatzman M, Fontebasso AM, Lo W, Subasri V, Goldenberg A, Li Y, Davidson S, Kanwar N, Waldman L, Brunga L, Babichev Y, Demicco EG, Gupta A, Szybowska M, Thipphavong S, Malkin D, Villani A, Shlien A, Gladdy RA, Kim RH. Ingley KM, et al. Among authors: szybowska m. NPJ Genom Med. 2024 Mar 27;9(1):24. doi: 10.1038/s41525-024-00405-z. NPJ Genom Med. 2024. PMID: 38538628 Free PMC article.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M; Undiagnosed Diseases Network; Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. Guillen Sacoto MJ, et al. Among authors: szybowska m. Am J Hum Genet. 2020 Aug 6;107(2):352-363. doi: 10.1016/j.ajhg.2020.06.013. Epub 2020 Jul 20. Am J Hum Genet. 2020. PMID: 32693025 Free PMC article.
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, Jamal SM, Szybowska M, Morel CF, Bowdin S, Garcia J, Care M, Sturm AC, Novelli V, Ackerman MJ, Ware JS, Hershberger RE, Wilde AAM, Gollob MH; National Institutes of Health Clinical Genome Resource Consortium. Hosseini SM, et al. Among authors: szybowska m. Circulation. 2018 Sep 18;138(12):1195-1205. doi: 10.1161/CIRCULATIONAHA.118.035070. Circulation. 2018. PMID: 29959160 Free PMC article.
29 results