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: denovolyzeR
https://packages.ecosyste.ms/registries/cran.r-project.org/packages/denovolyzeR
Statistical Analyses of De Novo Genetic Variants
3 versions
Latest release: over 8 years ago
152 downloads last month
Papers Mentioning denovolyzeR 10
10.1038/s41398-021-01447-y
Essential genes from genome-wide screenings as a resource for neuropsychiatric disorders gene discoveryCited by: 2
Author(s): Wei Zhang, Joao L De Quevedo, Gabriel R. Fries
Software Mentions: 6
Published: over 3 years ago
10.3389/fcvm.2021.683074
A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing GenesCited by: 2
Author(s): Adrianna Matos‐Nieves, Sathiyanarayanan Manivannan, Uddalak Majumdar, Kim L. McBride, Peter White, Vidu Garg
Software Mentions: 5
Published: over 3 years ago
10.1186/s13073-021-00870-6
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersCited by: 41
Author(s): Causes Study
Software Mentions: 3
Published: over 3 years ago
10.1038/s41398-020-00987-z
Retracted: Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohortsCited by: 4
Author(s): Shan Jiang, Dan Zhou, Yin-Ying Wang, Peilin Jia, Chunling Wan, Xingwang Li, Guang He, Dongmei Cao, Xiaoqian Jiang, Kenneth S. Kendler, Ming T. Tsuang, Travis Mize, Jain-Shing Wu, Yujie Lu, Lin He, Jingchun Chen, Zhongming Zhao, Xiangning Chen
Software Mentions: 2
Published: about 4 years ago
10.15252/embj.2019103701
SATB2‐LEMD2 interaction links nuclear shape plasticity to regulation of cognition‐related genesCited by: 14
Author(s): Patrick Feurle, Andreas Abentung, Isabella Cera, Nico Wahl, Cornelia Ablinger, Michael Bucher, Eduard Stefan, Simon Sprenger, David Teis, André Fischer, Aodán Laighneach, Laura Whitton, Derek W. Morris, Galina Apostolova, Georg Dechant
Software Mentions: 2
Published: almost 4 years ago
10.1186/s40246-021-00342-3
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autismCited by: 11
Author(s): Evin M. Padhi, Tristan J. Hayeck, Cheng Zhang, Satadal Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Bénech, Kévin Uguen, Séverine Audebert‐Bellanger, Cédric Le Marechal, Claude Férec, Stéphanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D Hunter, Jennifer A. Akiyama, Lauren Fries, Jeffrey Ng, Elvisa Mehinovic, Nicholas Stong, Andrew S. Allen, Diane E. Dickel, Raphael Bernier, David U. Gorkin, L Pennacchio, Michael C. Zody, Tychele N. Turner
Software Mentions: 2
Published: over 3 years ago
10.1093/schbul/sby183
Convergent Evidence That ZNF804A Is a Regulator of Pre-messenger RNA Processing and Gene ExpressionCited by: 19
Author(s): Ria M. Chapman, Caroline L. Tinsley, Matthew Hill, Marc P. Forrest, Katherine E. Tansey, Antonio F. Pardiñas, Elliott Rees, Aisling Doyle, Lawrence S. Wilkinson, Michael John Owen, Michael O’Donovan, Derek J. Blake
Software Mentions: 2
Published: almost 6 years ago
10.7554/eLife.20125
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 allelesCited by: 150
Author(s): Andrew T. Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson‐Williams, Eric D. Brooks, Kaya Bilgüvar, Irina Tikhonova, Shrikant Mane, Jingye Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W. Hashim, Derek M. Steinbacher, Michael L. DiLuna, Charles C. Duncan, Kevin A. Pelphrey, Hongyu Zhao, John A. Persing, Richard P. Lifton
Software Mentions: 1
Published: about 8 years ago
10.3389/fgene.2020.00957
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome SequencesCited by: 20
Author(s): Roozbeh Manshaei, Daniele Merico, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv Chaturvedi, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, Christian R. Marshall, Rebekah Jobling, Erwin Oechslin, Rachel M. Wald, Candice K. Silversides, Stephen W. Scherer, Raymond H. Kim, Anne S. Bassett
Software Mentions: 1
Published: about 4 years ago
10.1186/s13229-018-0247-z
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial modelCited by: 104
Author(s): Hui Guo, Tianyun Wang, Huidan Wu, Long Min, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, nan sim Pang, Lian Huang, Han Lin, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Xia Lu, Jingjing Chen, Lu Shen, Ying Liu, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael Bernier, Evan E. Eichler, Kun Xia
Software Mentions: 1
Published: almost 6 years ago