Searching journal content for articles similar to DeSilva et al. 9 (5): 428.

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Method: Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation
- Sophia N. Lee,
- Erin C. Banda,
- Lu Qiao,
- Sarah L. Thompson,
- Karan Singh,
- Ryan A. Hagenson,
- Teresa Davoli,
- Stefan F. Pinter,
- and Jason M. Sheltzer
Genome Res. March 2026 36: 547-560; Published in Advance January 12, 2026, doi:10.1101/gr.280425.125
...and Amon 2011). Disorders like Down syndrome, caused by the triplication of Chromosome 21, and Cri du chat syndrome, caused by the deletion of a region of Chromosome 5p, affect the expression of hundreds of genes and perturb normal development. 8p syndrome, caused by rearrangements affecting the p arm...
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Research: AGAP duplicons associate with structural diversity at Chromosome 10q11.22
- Stefania Fornezza,
- Vincenza Simona Delvecchio,
- William T. Harvey,
- Philip C. Dishuck,
- Evan E. Eichler,
- and Giuliana Giannuzzi
Genome Res. October 2024 34: 1487-1499; Published in Advance September 25, 2024, doi:10.1101/gr.279454.124
...the genomic organization and structural variation of human Chromosome 10q11.22. Our sequence analysis revealed extensive structural diversity, including large-scale (>50 kbp) deletions, duplications, and inversions that originate from SD-mediated NAHR. We identified 11 alternative structures, each differing...
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Research: Identification of the male-specific region on the guppy Y Chromosome from a haplotype-resolved assembly
- Kang Du,
- Oliver Deusch,
- Ilja Bezrukov,
- Christa Lanz,
- Yann Guiguen,
- Margarete Hoffmann,
- Anette Habring,
- Detlef Weigel,
- Manfred Schartl,
- and Christine Dreyer
Genome Res. March 2025 35: 489-498; Published in Advance March 5, 2025, doi:10.1101/gr.279582.124
...of Innsbruck, 5130 Mondsee, Austria ↵6 These authors contributed equally to this work. Corresponding authors: phch1@biozentrum.uni-wuerzburg.de, christine.dreyer@tuebingen.mpg.deAbstractThe guppy Y Chromosome has been a paradigmatic model for studying the genetics of sex-linked traits and Y Chromosome...
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Review: A systematic guide for identifying transcription factors that directly regulate the expression of a gene of interest
- Andrew D. Bates,
- Dawid Grzela,
- Maciej Studzian,
- Louise Brennan,
- Moli Williams,
- Conor Fawcett,
- Beth Hammond,
- Manreen Grewal,
- Marcin Ratajewski,
- Lukasz Pulaski,
- and Urszula L. McClurg
Genome Res. March 2026 36: 433-459; Published in Advance February 17, 2026, doi:10.1101/gr.281154.125
...Andrew D. Bates1,2,3,6, Dawid Grzela2,4,6, Maciej Studzian2,5,6, Louise Brennan1,6, Moli Williams1,6, Conor Fawcett1,6, Beth Hammond1, Manreen Grewal1, Marcin Ratajewski2, Lukasz Pulaski2,5 and Urszula L. McClurg1,2 1Institute of Systems, Molecular and Integrative Biology, University of Liverpool...
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Research: Genomic architecture constrained placental mammal X Chromosome evolution
- Wesley A. Brashear,
- Kevin R. Bredemeyer,
- and William J. Murphy
Genome Res. August 2021 31: 1353-1365; Published in Advance July 22, 2021, doi:10.1101/gr.275274.121
...with an extensive tandem repeat on the mouse (Mus musculus) inactive X chromosome. Chromosome Res 22: 335–350. doi:10.1007/s10577-014-9424-x ↵Darrow EM, Huntley MH, Dudchenko O, Stamenova EK, Durand NC, Sun Z, Huang SC, Sanborn AL, Machol I, Shamim M, et al. 2016. Deletion of DXZ4 on the human inactive X chromosome...
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Research: Sir3 mediates long-range chromosome interactions in budding yeast
- Myriam Ruault,
- Vittore F. Scolari,
- Luciana Lazar-Stefanita,
- Antoine Hocher,
- Isabelle Loïodice,
- Romain Koszul,
- and Angela Taddei
Genome Res. March 2021 31: 411-425; Published in Advance February 12, 2021, doi:10.1101/gr.267872.120
...distant regions, including the rDNA, telomeres, and internal Sir3-bound sites. Furthermore, we unveil a new property of Sir3 in promoting rDNA compaction. Finally, using a synthetic approach, we demonstrate that Sir3 can bond loci belonging to different chromosomes together, when targeted to these loci...
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Research: Quantitative analysis of Y-Chromosome gene expression across 36 human tissues
- Alexander K. Godfrey,
- Sahin Naqvi,
- Lukáš Chmátal,
- Joel M. Chick,
- Richard N. Mitchell,
- Steven P. Gygi,
- Helen Skaletsky,
- and David C. Page
Genome Res. June 2020 30: 860-873; Published in Advance May 27, 2020, doi:10.1101/gr.261248.120
..., USA Corresponding author: dcpage@wi.mit.eduAbstractLittle is known about how human Y-Chromosome gene expression directly contributes to differences between XX (female) and XY (male) individuals in nonreproductive tissues. Here, we analyzed quantitative profiles of Y-Chromosome gene expression across...
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Resource: Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9
- Yonghua Sun,
- Bo Zhang,
- Lingfei Luo,
- De-Li Shi,
- Han Wang,
- Zongbin Cui,
- Honghui Huang,
- Ying Cao,
- Xiaodong Shu,
- Wenqing Zhang,
- Jianfeng Zhou,
- Yun Li,
- Jiulin Du,
- Qingshun Zhao,
- Jun Chen,
- Hanbing Zhong,
- Tao P. Zhong,
- Li Li,
- Jing-Wei Xiong,
- Jinrong Peng,
- Wuhan Xiao,
- Jian Zhang,
- Jihua Yao,
- Zhan Yin,
- Xianming Mo,
- Gang Peng,
- Jun Zhu,
- Yan Chen,
- Yong Zhou,
- Dong Liu,
- Weijun Pan,
- Yiyue Zhang,
- Hua Ruan,
- Feng Liu,
- Zuoyan Zhu,
- Anming Meng,
- and The ZAKOC Consortium
Genome Res. January 2020 30: 118-126; Published in Advance December 12, 2019, doi:10.1101/gr.248559.119
...Systematic editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9 Yonghua Sun1, Bo Zhang2, Lingfei Luo3, De-Li Shi4, Han Wang5, Zongbin Cui1, Honghui Huang3, Ying Cao6, Xiaodong Shu7, Wenqing Zhang8, Jianfeng Zhou9, Yun Li9, Jiulin Du10, Qingshun Zhao11, Jun Chen12, Hanbing Zhong13, Tao P...
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Research: Evolutionary conservation of Y Chromosome ampliconic gene families despite extensive structural variation
- Wesley A. Brashear,
- Terje Raudsepp,
- and William J. Murphy
Genome Res. December 2018 28: 1841-1851; Published in Advance October 31, 2018, doi:10.1101/gr.237586.118
...Wesley A. Brashear1,2, Terje Raudsepp1,2 and William J. Murphy1,2 1Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, Texas 77843, USA; 2Interdisciplinary Program in Genetics, Texas A&M University, College Station, Texas 77843, USA Corresponding author: wmurphy...
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Research: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
- Susan M. Hiatt,
- James M.J. Lawlor,
- Lori H. Handley,
- Donald R. Latner,
- Zachary T. Bonnstetter,
- Candice R. Finnila,
- Michelle L. Thompson,
- Lori Beth Boston,
- Melissa Williams,
- Ivan Rodriguez Nunez,
- Jerry Jenkins,
- Whitley V. Kelley,
- E. Martina Bebin,
- Michael A. Lopez,
- Anna C.E. Hurst,
- Bruce R. Korf,
- Jeremy Schmutz,
- Jane Grimwood,
- and Gregory M. Cooper
Genome Res. November 2024 34: 1747-1762; Published in Advance September 19, 2024, doi:10.1101/gr.279227.124
...Long-read sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders Susan M. Hiatt1, James M.J. Lawlor1, Lori H. Handley1, Donald R. Latner1, Zachary T. Bonnstetter1, Candice R. Finnila1, Michelle L. Thompson1, Lori Beth Boston1, Melissa Williams1, Ivan Rodriguez...

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