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2013 1
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65 results

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Page 1
The Somatic Mosaicism across Human Tissues Network.
Coorens THH, Oh JW, Choi YA, Lim NS, Zhao B, Voshall A, Abyzov A, Antonacci-Fulton L, Aparicio S, Ardlie KG, Bell TJ, Bennett JT, Bernstein BE, Blanchard TG, Boyle AP, Buenrostro JD, Burns KH, Chen F, Chen R, Choudhury S, Doddapaneni HV, Eichler EE, Evrony GD, Faith MA, Fazzio TG, Fulton RS, Garber M, Gehlenborg N, Germer S, Getz G, Gibbs RA, Hernandez RG, Jin F, Korbel JO, Landau DA, Lawson HA, Lennon NJ, Li H, Li Y, Loh PR, Marth G, McConnell MJ, Mills RE, Montgomery SB, Natarajan P, Park PJ, Satija R, Sedlazeck FJ, Shao DD, Shen H, Stergachis AB, Underhill HR, Urban AE, VonDran MW, Walsh CA, Wang T, Wu TP, Zong C, Lee EA, Vaccarino FM; Somatic Mosaicism across Human Tissues Network. Coorens THH, et al. Nature. 2025 Jul;643(8070):47-59. doi: 10.1038/s41586-025-09096-7. Epub 2025 Jul 2. Nature. 2025. PMID: 40604182 Review.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. Mitani T, et al. Among authors: grochowski cm. Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34582790 Free PMC article.
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Gilbert MA, et al. Among authors: grochowski cm. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Pehlivan D, et al. Among authors: grochowski cm. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
Wang Y, Sams EI, Slaugh R, Crocker S, Hurtado EC, Tracy S, Hou YC, Markovic C, Valle K, Tate V, Belhassan K, Appelbaum E, Akinwe T, Tzovenos RS, Cao Y, Neilson A, Liu Y, Jensen N, Ghasemi R, Lindsay T, Manuel J, Couteranis S, Kremitzki M, Ustanik J, Antonacci T, Ng JK, Emory A, Metz L, DeLuca T, Lyons KN, Sinnwell T, Thomeczek B, Wang K, Sisneros N, Muraleedharan M, Kethireddy A, Corbo M, Gowda H, King K, Gurnett CA, Dutcher SK, Gooch C, Li YE, Mitchell MW, Peterson KA, Horani A, Rosenfeld JA, Bi W, Stankiewicz P, Chao HT, Posey J, Grochowski CM, Dardas Z, Puffenberger E, Pearson CE, Kooy F, Annear D, Innes AM, Heinz M, Head R, Fulton R, Toutain S; 9P-ARCH; Antonacci-Fulton L, Cui X, Mitra RD, Cole FS, Neidich J, Dickson PI, Milbrandt J, Turner TN. Wang Y, et al. Among authors: grochowski cm. medRxiv [Preprint]. 2025 Mar 30:2025.03.28.25324850. doi: 10.1101/2025.03.28.25324850. medRxiv. 2025. Update in: Genome Med. 2025 Oct 24;17(1):129. doi: 10.1186/s13073-025-01563-0. PMID: 40196253 Free PMC article. Updated. Preprint.
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.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Gunning AC, et al. Among authors: grochowski cm. Am J Hum Genet. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004445 Free PMC article.
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Ek M, Schuy J, Ameur A, Dai H; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Wincent J, Nordgren A, Carvalho CMB, Lindstrand A. Bilgrav Saether K, et al. Among authors: grochowski cm. Genome Res. 2024 Nov 20;34(11):1785-1797. doi: 10.1101/gr.279346.124. Genome Res. 2024. PMID: 39486878 Free PMC article.
65 results