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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Du H, Dardas Z, Jolly A, Grochowski CM, Jhangiani SN, Li H, Muzny D, Fatih JM, Yesil G, Elçioglu NH, Gezdirici A, Marafi D, Pehlivan D, Calame DG, Carvalho CMB, Posey JE, Gambin T, Coban-Akdemir Z, Lupski JR. Du H, et al. Among authors: gambin t. Nucleic Acids Res. 2024 Feb 28;52(4):e18. doi: 10.1093/nar/gkad1223. Nucleic Acids Res. 2024. PMID: 38153174 Free PMC article.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Smyk M, Geremek M, Ziemkiewicz K, Gambin T, Kutkowska-Kaźmierczak A, Kowalczyk K, Plaskota I, Wiśniowiecka-Kowalnik B, Bartnik-Głaska M, Niemiec M, Grad D, Piotrowicz M, Gieruszczak-Białek D, Pietrzyk A, Crowley TB, Giunta V, McGinn DE, Zackai EH, Tran O, Emanuel BS, McDonald-McGinn DM, Nowakowska BA. Smyk M, et al. Among authors: gambin t. Genes (Basel). 2023 Mar 9;14(3):680. doi: 10.3390/genes14030680. Genes (Basel). 2023. PMID: 36980952 Free PMC article.
Cloud-native distributed genomic pileup operations.
Wiewiórka M, Szmurło A, Stankiewicz P, Gambin T. Wiewiórka M, et al. Among authors: gambin t. Bioinformatics. 2023 Jan 1;39(1):btac804. doi: 10.1093/bioinformatics/btac804. Bioinformatics. 2023. PMID: 36515465 Free PMC article.
High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Willard N, Abman SH, Galambos C, Kinsella JP, Stankiewicz P. Yıldız Bölükbaşı E, et al. Among authors: gambin t. Mol Genet Genomic Med. 2022 Nov;10(11):e2062. doi: 10.1002/mgg3.2062. Epub 2022 Sep 20. Mol Genet Genomic Med. 2022. PMID: 36124617 Free PMC article.
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Matsika A, McManus S, Scott HS, Arts P, Ha T, Barnett CP, Rodgers J, Stankiewicz P. Yıldız Bölükbaşı E, et al. Among authors: gambin t. Eur J Hum Genet. 2022 Oct;30(10):1182-1186. doi: 10.1038/s41431-022-01159-x. Epub 2022 Jul 28. Eur J Hum Genet. 2022. PMID: 35902696 Free PMC article.
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Tóth A, Demcsák A, Zankl F, Oracz G, Unger LS, Bugert P, Laumen H, Párniczky A, Hegyi P, Rosendahl J, Gambin T, Płoski R, Koziel D, Gluszek S, Lindgren F, Löhr JM, Sahin-Tóth M, Witt H, Rygiel AM, Ewers M, Hegyi E. Tóth A, et al. Among authors: gambin t. Pancreatology. 2022 Sep;22(6):713-718. doi: 10.1016/j.pan.2022.06.258. Epub 2022 Jun 23. Pancreatology. 2022. PMID: 35773178 Free PMC article.
124 results