Ecosyste.ms: Papers

10.3389/fcvm.2020.00008

Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot
Cited by: 2
Author(s): Riley J Leonard, Claudia C. Preston, Melanie E Gucwa, Yohannes Afeworki Tecleab, Arielle Selya, Randolph S. Faustino
Software Mentions: 3
Published: almost 5 years ago

10.7717/peerj.11774

Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants
Cited by: 2
Author(s): Hannah McConnell, T. Daniel Andrews, Matthew A. Field
Software Mentions: 3
Published: over 3 years ago

10.1371/journal.pgen.1006506

Somatic Mutation Patterns in Hemizygous Genomic Regions Unveil Purifying Selection during Tumor Evolution
Cited by: 23
Author(s): Jimmy Van den Eynden, Swaraj Basu, Erik Larsson
Software Mentions: 2
Published: almost 8 years ago

10.1155/2020/1783564

Association of Peroxisome Proliferator-Activated Receptors (PPARs) with Diabetic Retinopathy in Human and Animal Models: Analysis of the Literature and Genome Browsers
Cited by: 4
Author(s): Špela Tajnšek, Danijel Petrovič, Mojca Globočnik Petrovič, Tanja Kunej
Software Mentions: 2
Published: over 4 years ago

10.1002/ccr3.1693

A novel<i>FBN2</i>mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family
Cited by: 3
Author(s): Shuyao Zhou, Feng‐Yu Wang, Yongheng Dou, Jack G. Zhou, Gefang Hao, Chengqi Xu, Qing Kenneth Wang, Haili Wang, Pengyun Wang
Software Mentions: 2
Published: over 6 years ago

10.1038/s41598-018-32217-4

Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson’s disease
Cited by: 10
Author(s): Ting Shen, Jiali Pu, Hsin-Yi Lai, Lingjia Xu, Xiaoli Su, Yaping Yan, Yasi Jiang, Baorong Zhang
Software Mentions: 2
Published: about 6 years ago

10.1371/journal.pgen.1006391

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
Cited by: 50
Author(s): Yiqin Wang, Martin Picard, Zhenglong Gu
Software Mentions: 2
Published: about 8 years ago

10.1002/mgg3.1036

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
Cited by: 30
Author(s): Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly A. Jones, Cindy Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Software Mentions: 2
Published: about 5 years ago

10.3390/cells9020287

Prognosis, Biology, and Targeting of TP53 Dysregulation in Multiple Myeloma
Cited by: 32
Author(s): Erin Flynt, Kamlesh Bisht, Vinidhra Sridharan, María Ortiz, Fadi Towfic, Anjan Thakurta
Software Mentions: 1
Published: almost 5 years ago

10.3390/cells9010175

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
Cited by: 1
Author(s): Paloma Gómez-Fernández, Aitzkoa Lopez de Lapuente Portilla, Ianire Astobiza, Jorge Mena, Andoni Urtasun, Vivian Altmann, Fuencisla Matesanz, David Otaegui, Elena Urcelay, Alfredo Rodríguez Antigüedad, Sunny Malhotra, Xavier Montalbán, Tamara Castillo-Triviño, Laura Espino-Paisán, Orhan Aktaş, Mathias Buttmann, Andrew T. Chan, Bertrand Fontaine, Pierre‐Antoine Gourraud, Michael Hecker, Sabine Hoffjan, Christian Kubisch, Tania Kümpfel, Felix Luessi, Uwe K. Zettl, Frauke Zipp, Iraide Alloza, Manuel Comabella, Christina M. Lill, Koen Vandenbroeck
Software Mentions: 1
Published: almost 5 years ago

10.3389/fgene.2014.00123

Network Assessor: An automated method for quantitative assessment of a network’s potential for gene function prediction
Cited by: 9
Author(s): Jason Montojo, Khalid Zuberi, Quentin Shao, Gary D. Bader, Quaid Morris
Software Mentions: 1
Published: almost 11 years ago

10.1038/hgv.2015.44

Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease
Cited by: 3
Author(s): Toshiko Umeda, Seiji Hashimoto, Kazuyuki Noriyasu, Ayumi Takamura, Miwa Fujisaki, Yoshikatsu Eto
Software Mentions: 1
Published: about 9 years ago

10.1038/srep14736

Characterization of DNA variants in the human kinome in breast cancer
Cited by: 2
Author(s): Divyansh Agarwal, Yuan Qi, Tingting Jiang, Xiuping Liu, Weiwei Shi, Vikram B. Wali, Benjamin E. Turk, Jeffrey S. Ross, W. Fraser Symmans, Lajos Pusztai, Christos Hatzis
Software Mentions: 1
Published: about 9 years ago

10.1186/s13063-017-2127-9

A feasibility study investigating the acceptability and design of a multicentre randomised controlled trial of needle fasciotomy versus limited fasciectomy for the treatment of Dupuytren’s contractures of the fingers (HAND-1): study protocol for a randomised controlled trial
Cited by: 9
Author(s): Eleanor Harrison, Wei Tan, Nicola Mills, Alexia Karantana, Kirsty Sprange, Lelia Duley, Daisy Elliott, Jane M Blazeby, William Hollingworth, Alan Montgomery, T. R. C. Davis
Software Mentions: 1
Published: about 7 years ago

10.1186/1471-2350-15-31

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
Cited by: 14
Author(s): Michael Christiansen, Paula L. Hedley, Juliane Theilade, Birgitte Stoevring, Trond P. Leren, Ole Eschen, Karina Meden Sørensen, Anne Tybjærg‐Hansen, Lilian Bomme Ousager, Lisbeth Nørum Pedersen, Ruth Frikke‐Schmidt, Frederik H. Aidt, Morten Hartvig Hansen, Jim Hansen, Poul Erik Bloch Thomsen, Egon Toft, Finn Lund Henriksen, Henning Bundgaard, Henrik Kjærulf Jensen, Jørgen K. Kanters
Software Mentions: 1
Published: over 10 years ago

10.1002/humu.23551

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia
Cited by: 8
Author(s): Anna Aspesi, Marta Betti, Marika Sculco, Chiara Actis, Cristina Olgasi, Marcin W. Wlodarski, Adrianna Vlachos, Jeffrey M. Lipton, Ugo Ramenghi, Claudio Santoro, Antonia Follenzi, Steven R. Ellis, Irma Dianzani
Software Mentions: 1
Published: over 6 years ago

10.1093/bioinformatics/btt182

Predicting the functional consequences of cancer-associated amino acid substitutions
Cited by: 204
Author(s): Hashem A. Shihab, Julian Gough, David Neil Cooper, Ian N.M. Day, Tom R. Gaunt
Software Mentions: 1
Published: over 11 years ago

10.1002/mgg3.948

A start codon mutation of the <i>TSPAN12</i> gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy
Cited by: 8
Author(s): Wei Li, Ziwei Wang, Yan Sun, Zhuoshi Wang, Jin‐yue Bai, Bo Xing, Xiao Sun, Lusheng Wang, Jiankang Li, Wei He
Software Mentions: 1
Published: about 5 years ago

10.1371/journal.pgen.1005002

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
Cited by: 48
Author(s): Brett Deml, Ariana Kariminejad, Razieh H. R. Borujerdi, Sanaa Muheisen, Linda M. Reis, Elena V. Semina
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0121812

Prediction of the Damage-Associated Non-Synonymous Single Nucleotide Polymorphisms in the Human MC1R Gene
Cited by: 29
Author(s): Diego Hepp, Gislene Lopes Gonçalves, Thales Renato Ochotorena de Freitas
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0132610

Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency
Cited by: 25
Author(s): Xiumei Zhang, Bai-Lin Wu, Jian Wang, Cuiling Lu, Huafang Gao, Jie Qiao
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0046688

Predicting the Functional Effect of Amino Acid Substitutions and Indels
Cited by: 2,364
Author(s): Yongwook Choi, Gregory E. Sims, Sean V. Murphy, Jason R. Miller, Agnes P. Chan
Software Mentions: 1
Published: about 12 years ago

10.1371/journal.pone.0063313

Sequencing of Candidate Chromosome Instability Genes in Endometrial Cancers Reveals Somatic Mutations in ESCO1, CHTF18, and MRE11A
Cited by: 26
Author(s): Jessica C. Price, Lana M. Pollock, Meghan L. Rudd, Sarah Fogoros, Hassan Mohamed, Christin L. Hanigan, Matthieu Le Gallo, Suiyuan Zhang, Pedro Cruz, Praveen F. Cherukuri, Nancy F. Hansen, Kirk J. McManus, Andrew K. Godwin, Dennis Sgroi, James C. Mullikin, María J. Merino, Philip Hieter, Daphne W. Bell
Software Mentions: 1
Published: over 11 years ago