Ecosyste.ms: Papers
An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.
Projects: cran: ExomeDepth
https://packages.ecosyste.ms/registries/cran.r-project.org/packages/ExomeDepth
Calls Copy Number Variants from Targeted Sequence Data
22 versions
Latest release: about 2 years ago
731 downloads last month
Papers Mentioning ExomeDepth 112
10.3390/cancers13051029
Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking PatientsCited by: 9
Author(s): Kendrick Koo, Dmitri Mouradov, Christopher Angel, Tim A. Iseli, D. Wiesenfeld, Michael McCullough, Antony W. Burgess, Oliver M. Sieber
Software Mentions: 1
Published: over 3 years ago
10.1093/hmg/ddw203
Deletion of amelotin exons 3–6 is associated with amelogenesis imperfectaCited by: 36
Author(s): Claire E. L. Smith, Gina Murillo, Steven J. Brookes, James A. Poulter, Sandra Silva, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell
Software Mentions: 1
Published: over 8 years ago
10.1016/j.ajhg.2020.09.002
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaCited by: 67
Author(s): Suzanne E. de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uirá Souto Melo, Julio C. Corral-Serrano, Timo Mulders, Michalis Georgiou, Carlo Rivolta, Nikolas Pontikos, Gavin Arno, Lisa Roberts, Jacquie Greenberg, Silvia Albert, Christian Gilissen, Marco Aben, George Rebello, Simon Mead, F. Lucy Raymond, Jordi Corominas, Claire E. L. Smith, Hannie Kremer, Susan M. Downes, Graeme C M Black, Andrew R. Webster, Chris F. Inglehearn, L. Ingeborgh van den Born, Robert K. Koenekoop, Michel Michaelides, Raj Ramesar, Carel B. Hoyng, Stefan Mundlos, Musa M. Mhlanga, Frans P.M. Cremers, Michael E. Cheetham, Susanne Roosing, Alison J. Hardcastle
Software Mentions: 1
Published: about 4 years ago
10.1016/j.ophtha.2016.01.009
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal DiseaseCited by: 110
Author(s): Jamie M Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O’Sullivan, Janine A. Lamb, Rahat Perveen, Georgina Hall, William G. Newman, Paul N. Bishop, Stephen A Roberts, Rick Leach, Rick Tearle, S. C. Bayliss, Simon Ramsden, Andrea H. Németh, Graeme C M Black
Software Mentions: 1
Published: over 8 years ago
10.1101/mcs.a004465
Novel mutations in <i>SLC6A5</i> with benign course in hyperekplexiaCited by: 9
Author(s): Hormos Salimi Dafsari, Amit Kawalia, Rosanne Sprute, Mert Karakaya, Anna Malenica, Peter Herkenrath, Peter Nürnberg, Susanne Motameny, Holger Thiele, Sebahattin Çırak
Software Mentions: 1
Published: about 5 years ago
10.1371/journal.pone.0245362
Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in TunisiaCited by: 8
Author(s): Maroua Boujemaa, Yosr Hamdi, Nesrine Mejri, Lilia Romdhane, Kaïs Ghedira, Hanen Bouaziz, Houda El Benna, Soumaya Labidi, Hamza Dallali, Olfa Jaïdane, S. Ben Nasr, A. Haddaoui, Khaled Rahal, Sonia Abdelhak, Hamouda Boussen, Mohamed Samir Boubaker
Software Mentions: 1
Published: almost 4 years ago
10.1093/eurheartj/ehab424
Alpha-protein kinase 3 (<i>ALPK3</i>) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathyCited by: 37
Author(s): Luís Rocha Lopes, Soledad García-Hernández, Massimiliano Lorenzini, Marta Futema, О. С. Чумакова, Dmitry A. Zateyshchikov, María Isidoro‐García, Eduardo Villacorta, Luis Escobar-López, Pablo García‐Pavía, Raquel Bilbao, David Dobarro, María Sandín‐Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Robles‐Mezcua, José María García Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Martí, María Teresa Basurte Elorz, Alicia Bautista Pavés, Juan R. Gimeno, Ana Virginia Figueroa, Raúl Franco‐Gutiérrez, María Eugenia Fuentes‐Cañamero, Marina Martínez Moreno, Martín Ortiz-Genga, Jesús Piqueras‐Flores, Karina Analía Ramos, Ainārs Rudzītis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharán, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y T Kwok, Jacob B. Smith, Enzo R. Porrello, Mohammed Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A. Elliott, Lorenzo Monserrat, Perry M. Elliott
Software Mentions: 1
Published: over 3 years ago
10.1038/s41431-021-00887-w
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiencyCited by: 3
Author(s): Siying Lin, James Fasham, Fida’ Al-Hijawi, Nouar Qutob, Adam C. Gunning, Joseph S Leslie, Lucy McGavin, Nishanka Ubeyratna, Wisam Baker, Ramez Zeid, Peter D. Turnpenny, Andrew H. Crosby, Emma L. Baple, Reham Khalaf-Nazzal
Software Mentions: 1
Published: over 3 years ago
10.1371/journal.pone.0085375
Outlier-Based Identification of Copy Number Variations Using Targeted Resequencing in a Small Cohort of Patients with Tetralogy of FallotCited by: 22
Author(s): V. Bansal, Cornelia Dorn, Marcel Grunert, Sabine Klaassen, Roland Hetzer, Felix Berger, Silke Sperling
Software Mentions: 1
Published: almost 11 years ago
10.1038/s41431-019-0548-5
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseCited by: 18
Author(s): Omamah A. Jiman, Rachel L. Taylor, Eva Lenassi, Jill Smith, Sofia Douzgou, Jamie M Ellingford, Stephanie Barton, Claire Hardcastle, Tracy Fletcher, Christopher Campbell, Jane Ashworth, Susmito Biswas, Simon Ramsden, Forbes D.C. Manson, Graeme C M Black
Software Mentions: 1
Published: almost 5 years ago
10.3389/fcell.2021.643644
Genome-Wide Association Identifies Risk Pathways for SAPHO SyndromeCited by: 2
Author(s): Ruikun Cai, Yingyue Dong, Mingxia Fang, Yuxuan Fan, Zian Cheng, Yue Zhou, Jingtao Gao, Feifei Han, Chao Guo, Xu Ma
Software Mentions: 1
Published: over 3 years ago
10.1016/j.ajhg.2016.09.022
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisCited by: 36
Author(s): Sek‐Shir Cheong, Lisa Hentschel, Alice E. Davidson, Dianne Gerrelli, Rebecca Davie, Roberta Rizzo, Nikolas Pontikos, Vincent Plagnol, Anthony T. Moore, Jane C. Sowden, Michel Michaelides, Martin P. Snead, Stephen Tuft, Alison J. Hardcastle
Software Mentions: 1
Published: almost 8 years ago