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Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.
Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Grochowski CM, et al. bioRxiv [Preprint]. 2023 Oct 3:2023.10.02.560172. doi: 10.1101/2023.10.02.560172. bioRxiv. 2023. PMID: 37873367 Free PMC article. Preprint.
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32.
Lupski J, Dardas Z, Marafi D, Duan R, Fatih J, El-Rashidy O, Grochowski C, Carvalho C, Jhangiani S, Bi W, Du H, Gibbs R, Posey J, Calame D, Zaki M. Lupski J, et al. Res Sq [Preprint]. 2024 Feb 19:rs.3.rs-3949622. doi: 10.21203/rs.3.rs-3949622/v1. Res Sq. 2024. Update in: Eur J Hum Genet. 2024 Sep 10. doi: 10.1038/s41431-024-01680-1 PMID: 38464263 Free PMC article. Updated. Preprint.
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Jolly A, et al. Among authors: grochowski cm. HGG Adv. 2023 Mar 29;4(3):100188. doi: 10.1016/j.xhgg.2023.100188. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37124138 Free PMC article.
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.
Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Hwang JP, Bhamidipati SV, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Grochowski CM, et al. Cell Genom. 2024 Jul 10;4(7):100590. doi: 10.1016/j.xgen.2024.100590. Epub 2024 Jun 21. Cell Genom. 2024. PMID: 38908378 Free PMC article.
Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Smolka M, et al. Among authors: grochowski cm. Nat Biotechnol. 2024 Oct;42(10):1571-1580. doi: 10.1038/s41587-023-02024-y. Epub 2024 Jan 2. Nat Biotechnol. 2024. PMID: 38168980 Free PMC article.
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Smolka M, et al. Among authors: grochowski cm. Nat Biotechnol. 2024 Oct;42(10):1616. doi: 10.1038/s41587-024-02141-2. Nat Biotechnol. 2024. PMID: 38253882 Free PMC article. No abstract available.
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: grochowski cm. Nucleic Acids Res. 2024 Feb 28;52(4):e18. doi: 10.1093/nar/gkad1223. Nucleic Acids Res. 2024. PMID: 38153174 Free PMC article.
Genome-wide maps of highly-similar intrachromosomal repeats that mediate ectopic recombination in three human genome assemblies.
Fernandez-Luna L, Aguilar-Perez C, Grochowski CM, Mehaffey M, Carvalho CMB, Gonzaga-Jauregui C. Fernandez-Luna L, et al. Among authors: grochowski cm. bioRxiv [Preprint]. 2024 Jan 31:2024.01.29.577884. doi: 10.1101/2024.01.29.577884. bioRxiv. 2024. Update in: HGG Adv. 2024 Dec 24:100396. doi: 10.1016/j.xhgg.2024.100396 PMID: 38352399 Free PMC article. Updated. Preprint.
62 results