Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
Turner, Daniel J, Miretti, Marcos, Rajan, Diana, Fiegler, Heike, Carter, Nigel P, Blayney, Martyn L, Beck, Stephan, Hurles, Matthew E·2008·Nature Genetics
Cited by (321)
Items 301–321 of 321
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- Molecular and Clinical Characterization of Syndromes Associated With Intellectual DisabilityChristian Wentzel · 2013 · Uppsala University Publications (Uppsala University)
- Additional file 3 of A novel extrachromosomal circular DNA related genes signature for overall survival prediction in patients with ovarian cancerZhang, Ying, Kexian Dong, Jia, Xueyuan, Shuomeng Du, Wang, Dong, Wang, Liqiang, Han Qu, Zhu, Shihao, Wang, Yang, Wang, Zhao et al. · 2024 · Figshare
- Additional file 2 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsYuan, Bo, Katharina Schulze, Assia Batzir, Nurit, Jefferson C. Sinson, Hongzheng Dai, Zhu, Wenmiao, Francia Bocanegra, ChinTo Fong, Holder, Jimmy, Nguyen, Joanne et al. · 2022 · Figshare
- Additional file 3 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsYuan, Bo, Katharina Schulze, Assia Batzir, Nurit, Jefferson C. Sinson, Hongzheng Dai, Zhu, Wenmiao, Francia Bocanegra, ChinTo Fong, Holder, Jimmy, Nguyen, Joanne et al. · 2022 · Figshare
- Additional file 1 of Read-depth based approach on whole genome resequencing data reveals important insights into the copy number variation (CNV) map of major global buffalo breedsSheikh Firdous Ahmad, Chandrababu Shailaja, Celus, Sakshi Vaishnav, Kumar, Amit, Gaur, Gyanendra Kumar, Sarath Chandra Janga, Ahmad, Syed Mudasir, Malla, Waseem Akram, Dutt, Triveni · 2023 · Figshare
- Additional file 2 of A novel extrachromosomal circular DNA related genes signature for overall survival prediction in patients with ovarian cancerZhang, Ying, Kexian Dong, Jia, Xueyuan, Shuomeng Du, Wang, Dong, Wang, Liqiang, Han Qu, Zhu, Shihao, Wang, Yang, Wang, Zhao et al. · 2024 · Figshare
- Additional file 1 of A novel extrachromosomal circular DNA related genes signature for overall survival prediction in patients with ovarian cancerZhang, Ying, Kexian Dong, Jia, Xueyuan, Shuomeng Du, Wang, Dong, Liqiang Wang, Han Qu, Zhu, Shihao, Wang, Yang, Wang, Zhao et al. · 2024 · Figshare
- Copy number variation landscape in the Hyriopsis cumingii genome: Insights into the genetic basis of biomineralization and shell color phenotypic diversityZhiyan Wang, Honghui Hu, Li Yuan, Liang Jia, Qing Mu, Hao Wang, Xuefeng Lv, Jiale Li, Zhiyi Bai · 2026 · Aquaculture Reports
- Beyond SNPs: Scalable Detection of Structural Variants Unlocks Hidden Genetic Diversity in TomatoReza Shekasteband · 2026 · Research Square
- Variations structurales du génome et pathologies humaines : recherche de nouveaux marqueurs génétiques impliqués dans les ischémies cérébrales du sujet jeuneSylvia Redon · 2012 · theses.fr (ABES)
- Influence de l’architecture génétique et des variations environnementales sur l’adaptation : la résistance aux insecticides chez les moustiquesPascal Milesi · 2015 · theses.fr (ABES)
- Determinism of genome size variation in animals : impact of transposable elements and population size variationAlba Marino · 2024 · theses.fr (ABES)
- Whole-genome resequencing suggests adaptive role of copy number variation regions in Indian cattleNarendra Pratap Singh, Subrata Koloi, Kusum Mehla, Satpal Dixit, Sanjeev Singh, Nidhi Sukhija, K K Kanaka, Indrajit Ganguly · 2026 · Tropical Animal Health and Production
- A síndrome de Williams-Beuren: contribuições à avaliação clínica e genômicaDeise Helena de Souza · 2013 · Aleph UCLA Undergraduate Research Journal for the Humanities and Social Sciences