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Page 1
Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.
MacFarland SP, Ebrahimzadeh JE, Zelley K, Begum L, Bass LM, Brand RE, Dudley B, Fishman DS, Ganzak A, Karloski E, Latham A, Llor X, Plon S, Riordan MK, Scollon SR, Stadler ZK, Syngal S, Ukaegbu C, Weiss JM, Yurgelun MB, Brodeur GM, Mamula P, Katona BW. MacFarland SP, et al. Among authors: ganzak a. Cancer Prev Res (Phila). 2021 Feb;14(2):215-222. doi: 10.1158/1940-6207.CAPR-20-0348. Epub 2020 Oct 23. Cancer Prev Res (Phila). 2021. PMID: 33097490 Free PMC article.
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R. Landrith T, et al. Among authors: ganzak ac. NPJ Precis Oncol. 2020 Feb 24;4:4. doi: 10.1038/s41698-020-0109-y. eCollection 2020. NPJ Precis Oncol. 2020. PMID: 32133419 Free PMC article.
Systems approach to enhance Lynch syndrome diagnosis through tumour testing.
Singh V, Mezzacappa C, Gershkovich P, Di Giovanna J, Ganzak A, Gibson J, Sinard J, Xicola RM, Llor X. Singh V, et al. Among authors: ganzak a. J Med Genet. 2023 Jun;60(6):533-539. doi: 10.1136/jmg-2022-108770. Epub 2022 Sep 17. J Med Genet. 2023. PMID: 36115663 Free PMC article.
Research participants' experiences with return of genetic research results and preferences for web-based alternatives.
Gaieski JB, Patrick-Miller L, Egleston BL, Maxwell KN, Walser S, DiGiovanni L, Brower J, Fetzer D, Ganzak A, McKenna D, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM, Bradbury AR. Gaieski JB, et al. Among authors: ganzak a. Mol Genet Genomic Med. 2019 Sep;7(9):e898. doi: 10.1002/mgg3.898. Epub 2019 Aug 3. Mol Genet Genomic Med. 2019. PMID: 31376244 Free PMC article. Clinical Trial.