bioconductor: DECIPHER | Projects

10.1186/s12920-021-00978-z

Genome-wide copy number variations in a large cohort of bantu African children
Cited by: 4
Author(s): Feyza Yilmaz, Megan Null, David P. Astling, J. C. Yu, Joanne B. Cole, Stephanie A. Santorico, Benedikt Hallgrímsson, Mange Manyama, Richard A. Spritz, Audrey E. Hendricks, Tamim H. Shaikh
Software Mentions: 3
Published: over 3 years ago

10.1371/journal.pone.0253859

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome
Cited by: 8
Author(s): Sujata Srikanth, Lavanya Jain, Cinthya J. Zepeda-Mendoza, Lauren Cascio, Kelly A. Jones, Rini Pauly, Barb DuPont, Curtis Rogers, Sara M. Sarasua, Katy Phelan, Cynthia C. Morton, Luigi Boccuto
Software Mentions: 3
Published: over 3 years ago

10.1371/journal.pgen.1008792

Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development
Cited by: 8
Author(s): Tanzeen Yusuff, Matthew Jensen, Sneha Yennawar, Lucilla Pizzo, S. Karthikeyan, Dagny J. Gould, Avik Sarker, Erika Gedvilaite, Yurika Matsui, Janani Iyer, Zhi Chun Lai, Santhosh Girirajan
Software Mentions: 3
Published: over 4 years ago

10.3389/fgene.2021.622886

Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes
Cited by: 3
Author(s): Josep Pol-Fuster, Francesca Cañellas, Laura Ruiz-Guerra, Aina Medina-Dols, Bàrbara Bisbal-Carrió, Víctor J. Asensio, Bernat Ortega-Vila, Diego M. Marzese, Carme Vidal, Carmen Sofia Pedro dos Santos, Jerònia Lladó, Gabriel Olmos, Damián Heine-Suñer, Konstantin Strauch, Antònia Flaquer, Cristòfol Vives-Bauzà
Software Mentions: 3
Published: over 3 years ago

10.3389/fmicb.2017.00472

Untangling Genomes of Novel Planctomycetal and Verrucomicrobial Species from Monterey Bay Kelp Forest Metagenomes by Refined Binning
Cited by: 47
Author(s): John Vollmers, Martinique Frentrup, Patrick Rast, Christian Jogler, Anne‐Kristin Kaster
Software Mentions: 3
Published: over 7 years ago

10.3390/ani10060936

Metataxonomic and Histopathological Study of Rabbit Epizootic Enteropathy in Mexico
Cited by: 5
Author(s): Xiao-Haitzi Daniel Puón-Peláez, Neil R. McEwan, José Guadalupe Gómez-Soto, Roberto Álvarez-Martínez, Andrea M. Olvera-Ramírez
Software Mentions: 3
Published: over 4 years ago

10.3389/fgene.2018.00587

RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis
Cited by: 27
Author(s): Jinmeng Jia, Ruiyuan Wang, Zhongxin An, Yongli Guo, Xi Ni, Tieliu Shi
Software Mentions: 3
Published: almost 6 years ago

10.3389/fmicb.2018.01664

Microbial Community Changes in a Chlorinated Solvents Polluted Aquifer Over the Field Scale Treatment With Poly-3-Hydroxybutyrate as Amendment
Cited by: 26
Author(s): Bruna Matturro, Lucia Pierro, Emanuela Frascadore, Marco Petrangeli Papini, Simona Rossetti
Software Mentions: 3
Published: over 6 years ago

10.1016/j.marenvres.2020.104968

Meiofauna improve oxygenation and accelerate sulfide removal in the seasonally hypoxic seabed
Cited by: 15
Author(s): Stefano Bonaglia, Johanna Hedberg, Ugo Marzocchi, Sven Iburg, Ronnie N. Glud, Francisco J. A. Nascimento
Software Mentions: 3
Published: over 4 years ago

10.1038/ejhg.2017.32

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
Cited by: 60
Author(s): Alistair T. Pagnamenta, Yoshiko Murakami, John M. Taylor, Consuelo Anzilotti, Malcolm F. Howard, Venessa Miller, Diana Johnson, Shereen Tadros, Sahar Mansour, I. Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel Harrison, B Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Software Mentions: 3
Published: over 7 years ago

10.1186/s12859-020-03934-3

Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays
Cited by: 9
Author(s): Vandhana Krishnan, Sowmithri Utiramerur, Zena Ng, Somalee Datta, M Snyder, Euan A. Ashley
Software Mentions: 3
Published: over 3 years ago

10.3390/genes11121408

‘There and Back Again’—Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension
Cited by: 8
Author(s): Emilia M. Swietlik, Matina Prapa, Jennifer Martin, Divya Pandya, Kathryn Auckland, Nicholas W. Morrell, Stefan Gräf
Software Mentions: 3
Published: almost 4 years ago

10.1093/database/baw015

Wikidata as a semantic framework for the Gene Wiki initiative
Cited by: 47
Author(s): Sebastian Burgstaller-Muehlbacher, Andra Waagmeester, Elvira Mitraka, Julia Turner, Tim Putman, Justin Leong, Chinmay Naik, Paul Pavlidis, Lynn M. Schriml, Benjamin M. Good, Andrew I. Su
Software Mentions: 3
Published: almost 9 years ago

10.3390/v11050443

Unprecedented Diversity of Lactococcal Group 936 Bacteriophages Revealed by Amplicon Sequencing of the Portal Protein Gene
Cited by: 7
Author(s): Cyril Frantzen, Helge Holo
Software Mentions: 3
Published: over 5 years ago

10.1111/j.1399-0004.2011.01755.x

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
Cited by: 118
Author(s): Christina Halgren, Susanne Kjærgaard, Mads Bak, Christine Søholm Hansen, Zahra El-Schich, Claire Anderson, Karen Friis Henriksen, Helle Hjalgrim, Maria Kirchhoff, Emilia K. Bijlsma, Maartje Nielsen, Nicolette S. den Hollander, Claudia Ruivenkamp, Bertrand Isidor, Cédric Le Caignec, Raffaella Zannolli, Mafalda Mucciolo, Alessandra Renieri, Francesca Mari, Britt Marie Anderlid, J Andrieux, Anne Dieux, Niels Tommerup, Iben Bache
Software Mentions: 3
Published: over 13 years ago

10.1371/journal.pone.0116230

Evaluation of Simultaneous Nutrient and COD Removal with Polyhydroxybutyrate (PHB) Accumulation Using Mixed Microbial Consortia under Anoxic Condition and Their Bioinformatics Analysis
Cited by: 10
Author(s): Jyotsnarani Jena, Ravindra Kumar, Anshuman Dixit, Satish Kumar Pandey, Trupti Das
Software Mentions: 3
Published: almost 10 years ago

10.1128/MRA.00757-19

The Bacterial Community in the Western Region of North Pacific Intermediate Water
Cited by: 0
Author(s): Maki Teramoto, Ayumi Komatsu, Kouhei Ohnishi
Software Mentions: 3
Published: over 5 years ago

10.3390/bios11060170

Impact of Carbon Felt Electrode Pretreatment on Anodic Biofilm Composition in Microbial Electrolysis Cells
Cited by: 10
Author(s): Sabine Spiess, Jiří Kučera, Hathaichanok Seelajaroen, Amaia Sasiain, Sophie Thallner, Klemens Kremser, David P. Novak, Georg M. Guebitz, Marianne Haberbauer
Software Mentions: 2
Published: over 3 years ago

10.1186/1750-1172-8-3

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Cited by: 18
Author(s): Tuva Barøy, Doriana Misceo, Petter Strømme, Asbjørg Stray-Pedersen, Asbjørn Holmgren, Olaug K. Rødningen, Anne Blomhoff, Johan Robert Helle, Alice Stormyr, Bjørn Tvedt, Madeleine Fannemel, Eirik Frengen
Software Mentions: 2
Published: almost 12 years ago

10.3390/ijms22105309

Dadaist2: A Toolkit to Automate and Simplify Statistical Analysis and Plotting of Metabarcoding Experiments
Cited by: 10
Author(s): Rebecca Ansorge, Giovanni Birolo, Stephen A. James, Andrea Telatin
Software Mentions: 2
Published: over 3 years ago

10.3390/jpm11080730

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer
Cited by: 2
Author(s): Elena Rojano, José Córdoba-Caballero, Fernando M. Jabato, Diana Gallego, Mercedes Serrano, Belén Pérez, Álvaro Parés-Aguilar, James R. Perkins, Juan A. G. Ranea, Pedro Seoane Zonjic
Software Mentions: 2
Published: over 3 years ago

10.7554/eLife.64256

Globally defining the effects of mutations in a picornavirus capsid
Cited by: 8
Author(s): Florian Mattenberger, Víctor Latorre, Omer Tirosh, Adi Stern, Ron Geller
Software Mentions: 2
Published: almost 4 years ago

10.3390/ijms160920152

Avoidance and Potential Remedy Solutions of Chimeras in Reconstructing the Phylogeny of Aphids Using the 16S rRNA Gene of Buchnera: A Case in Lachninae (Hemiptera)
Cited by: 5
Author(s): Rui Chen, Zhe Wang, Jing Chen, Ge‐Xia Qiao
Software Mentions: 2
Published: about 9 years ago

10.1186/1471-2105-12-4

CNV-WebStore: Online CNV Analysis, Storage and Interpretation
Cited by: 52
Author(s): Geert Vandeweyer, Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, R. Frank Kooy
Software Mentions: 2
Published: almost 14 years ago

10.1002/humu.23377

Properties of human genes guided by their enrichment in rare and common variants
Cited by: 10
Author(s): Eman Alhuzimi, Luis Leal, Michael J.E. Sternberg, Alessia David
Software Mentions: 2
Published: almost 7 years ago

10.1186/s12864-016-2374-2

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
Cited by: 26
Author(s): Pubudu Samarakoon, Hanne Sørmo Sorte, Asbjørg Stray-Pedersen, Olaug K. Rødningen, Torbjørn Rognes, Robert Lyle
Software Mentions: 2
Published: almost 9 years ago

10.1002/humu.22842

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER
Cited by: 35
Author(s): Eleni A. Chatzimichali, Simon Brent, Benjamin Hutton, Daniel Perrett, Caroline F. Wright, A. Paul Bevan, Matthew E. Hurles, Helen V. Firth, Ganesh Swaminathan
Software Mentions: 2
Published: over 9 years ago

10.1007/s00439-015-1606-x

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts
Cited by: 36
Author(s): Federica Conte, Martin Oti, Jill Dixon, Carine Carels, Michele Rubini, Huiqing Zhou
Software Mentions: 2
Published: about 9 years ago

10.1155/2015/242856

Diverse Reductive Dehalogenases Are Associated with Clostridiales-Enriched Microcosms Dechlorinating 1,2-Dichloroethane
Cited by: 12
Author(s): Giuseppe Merlino, Annalisa Balloi, Massimo Marzorati, Francesca Mapelli, Aurora Rizzi, D. Lavazza, Francesca de Ferra, Giovanna Carpani, Daniele Daffonchio
Software Mentions: 2
Published: almost 10 years ago

10.1002/humu.23542

MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases
Cited by: 12
Author(s): Gillian S. Townend, Friederike Ehrhart, Henk J. van Kranen, Mark D. Wilkinson, Annika Jacobsen, Marco Roos, Egon Willighagen, David van Enckevort, Chris T. Evelo, Leopold Curfs
Software Mentions: 2
Published: over 6 years ago

10.1186/s40793-016-0172-8

Complete genome sequence of thermophilic Bacillus smithii type strain DSM 4216T
Cited by: 14
Author(s): Elleke Fenna Bosma, Jasper J. Koehorst, Sacha A. F. T. van Hijum, Bernadet Renckens, Bastienne Vriesendorp, Antonius H. P. van de Weijer, Peter J. Schaap, Willem M. de Vos, John van der Oost, Richard van Kranenburg
Software Mentions: 2
Published: over 8 years ago

10.1007/s00439-016-1658-6

Novel bioinformatic developments for exome sequencing
Cited by: 36
Author(s): Stefan H. Lelieveld, Joris A. Veltman, Christian Gilissen
Software Mentions: 2
Published: over 8 years ago

10.1038/s41598-019-47173-w

Modeling the Amplification of Immunoglobulins through Machine Learning on Sequence-Specific Features
Cited by: 4
Author(s): Matthias Döring, Christoph Kreer, Nathalie Lehnen, Florian Klein, Nico Pfeifer
Software Mentions: 2
Published: over 5 years ago

10.1038/s41598-018-29953-y

Microbiomes of gall-inducing copepod crustaceans from the corals Stylophora pistillata (Scleractinia) and Gorgonia ventalina (Alcyonacea)
Cited by: 10
Author(s): Pavel V. Shelyakin, Sofya K. Garushyants, М. А. Никитин, Sofya V. Mudrova, Michael L. Berumen, A.G.C.L. Speksnijder, Bert W. Hoeksema, Diego Fontaneto, Mikhail S. Gelfand, Viatcheslav N. Ivanenko
Software Mentions: 2
Published: over 6 years ago

10.1038/s41598-021-86464-z

Esophageal microbiome in active eosinophilic esophagitis and changes induced by different therapies
Cited by: 21
Author(s): Emilio J Laserna-Mendieta, Jamie A. FitzGerald, Laura Arias-González, J M Ollala, David Bernardo, Marcus J. Claesson, Alfredo J. Lucendo
Software Mentions: 2
Published: over 3 years ago

10.1186/1756-0500-7-830

A review of software for analyzing molecular sequences
Cited by: 45
Author(s): Haema Nilakanta, Kimberly L. Drews, Suzanne Firrell, Mary A. Foulkes, Kathleen A. Jablonski
Software Mentions: 2
Published: almost 10 years ago

10.1038/s41598-018-23571-4

Microbiota Composition May Predict Anti-Tnf Alpha Response in Spondyloarthritis Patients: an Exploratory Study
Cited by: 52
Author(s): Thomas Bazin, Katarzyna B. Hooks, Thomas Barnetche, Marie-Élise Truchetet, Raphaël Enaud, Christophe Richez, Maxime Dougados, Christophe Hubert, Aurélien Barré, Macha Nikolski, Thierry Schaeverbeke
Software Mentions: 2
Published: over 6 years ago

10.1186/s13229-017-0136-x

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10
Cited by: 12
Author(s): A. Mak, Annie Ting Gee Chiu, Gordon Leung, Christopher Chun Yu Mak, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Wing Fai Tang, Kelvin Y.K. Chan, Mary Hoi Yin Tang, Elizabeth Tak-Kwong Lau Yim, Kin Wai So, Victoria Qinchen Tao, Cheuk Wing Fung, Virginia Wong, Mohammed Uddin, So Lun Lee, Christian R. Marshall, Stephen W. Scherer, Anita Sik Yau Kan, Brian Hon Yin Chung
Software Mentions: 2
Published: over 7 years ago

10.1371/journal.pone.0190664

Analysis of copy number loss of the ErbB4 receptor tyrosine kinase in glioblastoma
Cited by: 9
Author(s): DeAnalisa C. Jones, Adriana Scanteianu, Matthew DiStefano, Mehdi Bouhaddou, Marc R. Birtwistle
Software Mentions: 2
Published: almost 7 years ago

10.1126/sciadv.abg4102

A microbial eukaryote with a unique combination of purple bacteria and green algae as endosymbionts
Cited by: 19
Author(s): Sergio A. Muñoz-Gómez, M. Kreutz, Sebastian Hess
Software Mentions: 2
Published: over 3 years ago

10.1186/s13073-021-00945-4

X-CNV: genome-wide prediction of the pathogenicity of copy number variations
Cited by: 19
Author(s): Li Zhang, Jingru Shi, Jian Ouyang, Riquan Zhang, Yiran Tao, Dongsheng Yuan, Chengkai Lv, Ruiyuan Wang, Baitang Ning, Ruth Roberts, Weida Tong, Zhichao Liu, Tieliu Shi
Software Mentions: 2
Published: over 3 years ago

10.1371/journal.pone.0085904

Microbiota of Cow’s Milk; Distinguishing Healthy, Sub-Clinically and Clinically Diseased Quarters
Cited by: 153
Author(s): Georgios Oikonomou, M.L.S. Bicalho, E.B.S. Meira, Rubiana Falopa Rossi, Carla Foditsch, Vinicius Machado, A.G.V. Teixeira, Carlos Santisteban, Y.H. Schukken, R.C. Bicalho
Software Mentions: 2
Published: almost 11 years ago

10.3390/microorganisms7020033

Cave Drip Water-Related Samples as a Natural Environment for Aromatic Hydrocarbon-Degrading Bacteria
Cited by: 15
Author(s): Eric de Lima Silva Marques, Gislaine S. Silva, João Carlos Teixeira Dias, Eduardo Gross, Moara Silva Costa, Rachel Passos Rezende
Software Mentions: 2
Published: almost 6 years ago

10.1186/1753-6561-6-S6-O12

Characterizing epistatic hotspots of human disease
Cited by: 0
Author(s): Tallulah Andrews, Caleb Webber
Software Mentions: 2
Published: about 12 years ago

10.1002/jcla.23288

Prenatal diagnosis of a de novo tetrasomy 15q24.3‐25.3: Case report and literature review
Cited by: 3
Author(s): Xiaonan Hu, Leilei Li, Hongguo Zhang, Zhu-Ming Hu, Linlin Li, Meiling Sun, Ruizhi Liu
Software Mentions: 2
Published: over 4 years ago

10.1093/g3journal/jkaa062

Linking anthocyanin diversity, hue, and genetics in purple corn
Cited by: 18
Author(s): Laura A. Chatham, John A. Juvik
Software Mentions: 2
Published: almost 4 years ago

10.3390/genes12071001

Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review
Cited by: 3
Author(s): Ji Yoon Han, Joonhong Park
Software Mentions: 2
Published: over 3 years ago

10.1371/journal.pone.0157075

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome
Cited by: 5
Author(s): Christopher M. Watson, Laura A. Crinnion, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ian Carr, David T. Bonthron, Eamonn Sheridan
Software Mentions: 2
Published: over 8 years ago

10.3389/fphys.2021.637306

Identification of Copy Number Variation Among Nonsyndromic Cleft Lip and or Without Cleft Palate With Hypodontia: A Genome-Wide Association Study
Cited by: 3
Author(s): Norliana Ghazali, Normastura Abd Rahman, Ahmad Azlina, Sarina Sulong, Thirumulu Ponnuraj Kannan
Software Mentions: 2
Published: over 3 years ago

10.3390/genes12091388

A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review
Cited by: 2
Author(s): Ji Yoon Han, Joonhong Park
Software Mentions: 2
Published: about 3 years ago

10.3389/fmicb.2020.606825

Synthetic Sequencing Standards: A Guide to Database Choice for Rumen Microbiota Amplicon Sequencing Analysis
Cited by: 11
Author(s): Pamela M. Smith, Sinéad M. Waters, Ruth Gómez Expósito, Hauke Smidt, Crea Carberry, Matthew S. McCabe
Software Mentions: 2
Published: almost 4 years ago

10.1371/journal.pone.0063157

Fecal Microbial Diversity in Pre-Weaned Dairy Calves as Described by Pyrosequencing of Metagenomic 16S rDNA. Associations of Faecalibacterium Species with Health and Growth
Cited by: 205
Author(s): Georgios Oikonomou, A.G.V. Teixeira, Carla Foditsch, M.L.S. Bicalho, Vinicius Machado, R.C. Bicalho
Software Mentions: 2
Published: over 11 years ago

10.3389/fmicb.2021.685303

Deadwood-Inhabiting Bacteria Show Adaptations to Changing Carbon and Nitrogen Availability During Decomposition
Cited by: 16
Author(s): Vojtěch Tláskal, Petr Baldrián
Software Mentions: 2
Published: over 3 years ago

10.1371/journal.pone.0242954

Principal component analysis of coronaviruses reveals their diversity and seasonal and pandemic potential
Cited by: 7
Author(s): Tomokazu Konishi
Software Mentions: 2
Published: almost 4 years ago

10.3389/fmicb.2015.01206

Survival of free-living Acholeplasma in aerated pig manure slurry revealed by 13C-labeled bacterial biomass probing
Cited by: 16
Author(s): Dai Hanajima, Tomo Aoyagi, Tomoyuki Hori
Software Mentions: 2
Published: about 9 years ago

10.1016/j.ajhg.2017.04.003

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Cited by: 274
Author(s): Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Ángel Carracedo, Johan T. den Dunnen, Stephanie O.M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Marta Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha Maria Knoppers, Jeffrey P. Krischer, Milan Maçek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak C. Sham, Румен Стефанов, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han G. Brunner, Michael J. Bamshad, Hanns Lochmüller
Software Mentions: 2
Published: over 7 years ago

10.3389/fmicb.2018.01667

Diversity and Ice Nucleation Activity of Microorganisms Collected With a Small Unmanned Aircraft System (sUAS) in France and the United States
Cited by: 18
Author(s): Celía Jímenez-Sánchez, Regina Hanlon, Ken Aho, Craig Powers, Cindy E. Morris, David G. Schmale
Software Mentions: 2
Published: over 6 years ago

10.3389/fmicb.2019.00125

Effect of Lactate on the Microbial Community and Process Performance of an EBPR System
Cited by: 22
Author(s): F.J. Rubio-Rincón, Laurens Welles, Carlos M. López-Vázquez, Ben Abbas, Mark C.M. van Loosdrecht, Damir Brdjanović
Software Mentions: 2
Published: almost 6 years ago

10.1186/s12864-018-5099-6

Exclusivity offers a sound yet practical species criterion for bacteria despite abundant gene flow
Cited by: 14
Author(s): Erik S. Wright, David A. Baum
Software Mentions: 2
Published: about 6 years ago

10.3389/fnut.2016.00026

Considerations For Optimizing Microbiome Analysis Using a Marker Gene
Cited by: 26
Author(s): Jacobo de la Cuesta-Zuluaga, Juan S. Escobar
Software Mentions: 2
Published: over 8 years ago

10.1073/pnas.2104378118

Global biogeography of chemosynthetic symbionts reveals both localized and globally distributed symbiont groups
Cited by: 11
Author(s): Jay T Osvatic, Laetitia G. E. Wilkins, Lukas Leibrecht, Matthieu Leray, Sarah Zauner, Julia Polzin, Yolanda Camacho, Olivier Gros, Jan A. van Gils, Jonathan A. Eisen, Jillian M. Petersen, Benedict Yuen
Software Mentions: 2
Published: over 3 years ago

10.1002/mbo3.1062

Phylum‐level diversity of the microbiome of the extremophilic basidiomycete fungus Pisolithus arhizus (Scop.) Rauschert: An island of biodiversity in a thermal soil desert
Cited by: 8
Author(s): Ken Cullings, Matthew B. Stott, Nicole Marinkovich, Julia DeSimone, Shilpa Bhardwaj
Software Mentions: 2
Published: over 4 years ago

10.3389/fmicb.2017.01549

Variation of Oxygenation Conditions on a Hydrocarbonoclastic Microbial Community Reveals Alcanivorax and Cycloclasticus Ecotypes
Cited by: 20
Author(s): Fanny Terrisse, Cristiana Cravo‐Laureau, Cyril Noël, Christine Cagnon, Alex J. Dumbrell, Terry J. McGenity, Robert Duran
Software Mentions: 2
Published: over 7 years ago

10.1371/journal.pone.0173903

Diversity and community structure of cyanobacteria and other microbes in recycling irrigation reservoirs
Cited by: 6
Author(s): Ping Kong, Patricia A. Richardson, Chuanxue Hong
Software Mentions: 2
Published: over 7 years ago

10.1371/journal.pgen.1009698

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
Cited by: 10
Author(s): Laura E. Kuil, Katherine C. MacKenzie, Clara Sze-Man Tang, Jonathan D Windster, Thuy Linh Le, Anwarul Karim, Bianca M. de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E. J. Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René Wijnen, Jeanne Amiel, Stanislas Lyonnet, María-Mercé García-Barceló, Paul Kwong Hang Tam, Maria M. Alves, Alice S. Brooks, Robert M.W. Hofstra, Erwin Brosens
Software Mentions: 2
Published: over 3 years ago

10.3389/fmicb.2020.00862

The Cultivable Bacterial Microbiota Associated to the Medicinal Plant Origanum vulgare L.: From Antibiotic Resistance to Growth-Inhibitory Properties
Cited by: 16
Author(s): Lara Mitia Castronovo, Carmela Calonico, Roberta Ascrizzi, Sara Del Duca, Vania Delfino, Sofia Chioccioli, Alberto Vassallo, Iolanda Strozza, Marinella De Leo, Sauro Biffi, Giovanni Bacci, Patrizia Bogani, Valentina Maggini, Alessio Mengoni, Luisa Pistelli, Antonella Lo Nostro, Fabio Firenzuoli, Renato Fani
Software Mentions: 2
Published: over 4 years ago

10.1264/jsme2.ME14119

Increase in Bacterial Colony Formation from a Permafrost Ice Wedge Dosed with a Tomitella biformata Recombinant Resuscitation-Promoting Factor Protein
Cited by: 9
Author(s): Indun Dewi Puspita, Wataru Kitagawa, Yoichi Kamagata, Michiko Tanaka, Cindy H. Nakatsu
Software Mentions: 2
Published: almost 10 years ago

10.3389/fmicb.2020.00605

Multiple Factors Determine the Structure of Bacterial Communities Associated With Aedes albopictus Under Artificial Rearing Conditions
Cited by: 21
Author(s): Shi Chen, Dongjing Zhang, Antonios A. Augustinos, Vangelis Doudoumis, Naima Bel Mokhtar, Hamidou Maïga, George Tsiamis, Kostas Bourtzis
Software Mentions: 2
Published: over 4 years ago

10.1371/journal.pgen.1001154

Characterising and Predicting Haploinsufficiency in the Human Genome
Cited by: 558
Author(s): Ni Huang, Insuk Lee, Edward M. Marcotte, Matthew E. Hurles
Software Mentions: 2
Published: about 14 years ago

10.3389/fgene.2013.00092

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation
Cited by: 52
Author(s): Armand Valsesia, Aurélien Macé, Sébastien Jacquemont, Jacques S. Beckmann, Zoltán Kutalik
Software Mentions: 2
Published: almost 12 years ago

10.1371/journal.pgen.1007780

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Cited by: 26
Author(s): Lusine Nazaryan‐Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Liedén, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Wedell
Software Mentions: 2
Published: about 6 years ago

10.3389/fcell.2020.562940

Functional Characterization of the Lin28/let-7 Circuit During Forelimb Regeneration in Ambystoma mexicanum and Its Influence on Metabolic Reprogramming
Cited by: 5
Author(s): Hugo Varela-Rodríguez, Diana G. Abella-Quintana, Annie Espinal‐Centeno, Luis Varela-Rodríguez, David Gómez-Zepeda, Juan Caballero-Pérez, Paola L. García‐Medel, Luis G. Brieba, José Juan Ordaz-Ortíz, Alfredo Cruz‐Ramírez
Software Mentions: 2
Published: about 4 years ago

10.3389/fgene.2019.00611

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Cited by: 13
Author(s): Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Raphael Bernier, François Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton‐Smith, Benjamin Cogné, Hugh Dawkins, Bert deVries, Sofia Douzgou, Tracy Dudding, Evan E. Eichler, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa A. Haendel, Nina Hallowell, Ada Hamosh, Jayne Y. Hehir-Kwa, Marc‐Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R. Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan Politei, Cathryn Poulton, F. Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David Sainsbury, Lyn Schofield, V. Reid Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew Wilkie
Software Mentions: 2
Published: over 5 years ago

10.1111/1574-6941.12084

Microbial community potentially responsible for acid and metal release from an Ostrobothnian acid sulfate soil
Cited by: 30
Author(s): Xiaofen Wu, Zhen Lim Wong, Pekka Stén, Sten Engblom, Peter Österholm, Mark Dopson
Software Mentions: 2
Published: over 11 years ago

10.3389/fmicb.2014.00786

Chemoautotrophic growth of ammonia-oxidizing Thaumarchaeota enriched from a pelagic redox gradient in the Baltic Sea
Cited by: 33
Author(s): Carlo Berg, Luisa Listmann, Verona Vandieken, Angela Vogts, Klaus Jürgens
Software Mentions: 2
Published: almost 10 years ago

10.1097/MD.0000000000013094

Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion
Cited by: 6
Author(s): Fagui Yue, Yuting Jiang, Yang Yu, Xiao Yang, Hongguo Zhang, Ruizhi Liu, Ruixue Wang
Software Mentions: 2
Published: about 6 years ago

10.1038/s41431-020-00728-2

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy
Cited by: 6
Author(s): Nina McTiernan, Harinder Gill, Carlos E. Prada, Harry Pachajoa, Juliana Lores, Causes Study, Thomas Arnesen
Software Mentions: 2
Published: about 4 years ago

10.1186/1476-511X-7-33

Genetic studies on the APOA1-C3-A5 gene cluster in Asian Indians with premature coronary artery disease
Cited by: 37
Author(s): Jayashree Shanker, Ganapathy Perumal, Veena S. Rao, Natesha B Khadrinarasimhiah, Shibu John, Sridhara Hebbagodi, Manjarí Mukherjee, Vijay V. Kakkar
Software Mentions: 2
Published: almost 17 years ago

10.1038/s41431-018-0219-y

Registered access: authorizing data access
Cited by: 30
Author(s): Stephanie O.M. Dyke, Mikael Lindén, Ilkka Lappalainen, Jordi Rambla, Knox Carey, David Lloyd, J. Dylan Spalding, Moran N. Cabili, Giselle Kerry, Julia Foreman, Tim Cutts, Mahsa Shabani, Laura Lyman Rodriguez, Maximilian Haeussler, Brian Walsh, Xiaoqian Jiang, Shuang Wang, Daniel Perrett, Tiffany Boughtwood, Andreas Matern, Anthony J. Brookes, Miro Cupak, Marc Fiume, Ravi Pandya, Ilia Tulchinsky, Serena Scollen, Juha Törnroos, Samir Das, Alan C. Evans, Bradley Malin, Stephan Beck, Steven E. Brenner, Tommi Nyrönen, Niklas Blomberg, Helen V. Firth, Matthew E. Hurles, Anthony Philippakis, Gunnar Rätsch, Michael Brudno, Kym M. Boycott, Heidi L. Rehm, Michael Baudis, Stephen T. Sherry, Kazuto Kato, Bartha Maria Knoppers, Dixie B. Baker, Paul Flicek
Software Mentions: 2
Published: over 6 years ago

10.12688/wellcomeopenres.15005.4

Detection of diverse Wolbachia 16S rRNA sequences at low titers from malaria vectors in Kayin state, Myanmar
Cited by: 2
Author(s): Sunisa Sawasdichai, Victor Chaumeau, Tee Dah, Thithiworada Kulabkeeree, Ladda Kajeechiwa, Monthicha Phanaphadungtham, Muesuwa Trakoolchengkaew, Praphan Kittiphanakun, Yanada Akararungrot, Kyi Oo, Gilles Delmas, Nicholas J. White, François Nosten
Software Mentions: 2
Published: about 5 years ago

10.1530/EJE-20-0474

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity
Cited by: 4
Author(s): Emily Cottrell, Claudia Cabrera, Miho Ishida, Sumana Chatterjee, James Greening, Neil Wright, Artur Bossowski, Leo Dunkel, Asma Deeb, Iman Al Basiri, Stephen Rose, Avril Mason, Susan Bint, Joo Wook Ahn, Vivian Hwa, Louise Metherell, Gudrun E. Moore, Helen L Storr
Software Mentions: 2
Published: almost 4 years ago

10.1016/S0140-6736(14)61705-0

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Cited by: 615
Author(s): Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones, Stephen Clayton, Jeremy F. McRae, Margriet van Kogelenberg, Dan King, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, A Paul Bevan, Eugene Bragin, Eleni A. Chatzimichali, Susan Gribble, Philip H. Jones, Netravathi Krishnappa, Laura Mason, Ray Miller, Katherine I. Morley, Vijaya Parthiban, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Ganesh Swaminathan, Adrian Tivey, Anna Middleton, Michael Parker, Nigel P. Carter, Jeffrey C. Barrett, Matthew E. Hurles, David R. FitzPatrick, Helen V. Firth
Software Mentions: 2
Published: over 9 years ago

10.3390/diagnostics11020337

D-karyo—A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism
Cited by: 1
Author(s): Osamu Shimokawa, Masayoshi Takeda, Ohashi Hiroyasu, Akemi Shono-Ota, Michio Kumagai, Risa Matsushika, Chika Masuda, K. Uenishi, Ritsuko K. Pooh
Software Mentions: 2
Published: almost 4 years ago

10.15252/msb.20209500

Aggregation and disaggregation features of the human proteome
Cited by: 19
Author(s): Tomi A. Määttä, Mandy Rettel, S. Sridharan, Dominic Helm, Nils Kurzawa, Frank Stein, Mikhail M. Savitski
Software Mentions: 2
Published: about 4 years ago

10.1186/s12881-016-0359-2

Sacral agenesis: a pilot whole exome sequencing and copy number study
Cited by: 15
Author(s): Robert M. Porsch, Elisa Merello, Patrizia De Marco, Gregory Yin Ming Cheng, Laura Rodriguez, Man-Ting So, Pak C. Sham, Paul Kwong Hang Tam, Valeria Capra, Stacey S. Cherny, Maria Mercè García-Barceló, Desmond Campbell
Software Mentions: 2
Published: almost 8 years ago

10.1002/mgg3.496

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
Cited by: 10
Author(s): Nehir Edibe Kurtas, Luciano Xumerle, Ursula Giussani, Alessandra Pansa, Laura Cardarelli, Veronica Bertini, Angelo Valetto, Thomas Liehr, María Clara Bonaglia, Edoardo Errichiello, Massimo Delledonne, Orsetta Zuffardi
Software Mentions: 2
Published: almost 6 years ago

10.1002/mgg3.1592

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
Cited by: 1
Author(s): Zuzana Capkova, Pavlína Čapková, Josef Srovnal, Kateřina Adamová, Martin Procházka, Marián Hajdúch
Software Mentions: 1
Published: almost 4 years ago

10.1002/mgg3.233

Lessons learned from the search for genes responsible for rare Mendelian disorders
Cited by: 7
Author(s): Nara Sobreira, David Valle
Software Mentions: 1
Published: over 8 years ago

10.1186/s42269-021-00561-7

Endophytic microbes from Nigerian ethnomedicinal plants: a potential source for bioactive secondary metabolites—a review
Cited by: 10
Author(s): Chijioke E. Ezeobiora, Nwamaka H. Igbokwe, Dina H. Amin, Udoma E. Mendie
Software Mentions: 1
Published: over 3 years ago

10.1002/mgg3.1561

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
Cited by: 2
Author(s): Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Giglio
Software Mentions: 1
Published: almost 4 years ago

10.1002/mgg3.1287

A novel variant of the IFITM5 gene within the 5′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum
Cited by: 4
Author(s): Dong Wu, Yuxin Wang, Huijuan Huang
Software Mentions: 1
Published: over 4 years ago

10.1186/s12881-016-0351-x

Assessment of copy number variations in 120 patients with Poland syndrome
Cited by: 17
Author(s): Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, F. M. Senes, Nunzio Catena, Maria Francesca Bedeschi, Anwar Baban, Maria Grazia Calevo, Massimo Acquaviva, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti
Software Mentions: 1
Published: almost 8 years ago

10.1002/mgg3.1072

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
Cited by: 5
Author(s): Teresa Romeo Luperchio, Carolyn D. Applegate, Olaf A. Bodamer, Hans T. Björnsson
Software Mentions: 1
Published: almost 5 years ago

10.1002/mgg3.415

Genetics in mainstream medicine: Finally within grasp to influence healthcare globally
Cited by: 7
Author(s): Swaroop Aradhya, Robert L. Nussbaum
Software Mentions: 1
Published: over 6 years ago

10.1002/mgg3.75

Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d‐transposition of the great arteries
Cited by: 14
Author(s): Kazutoyo Osoegawa, Kathleen Schultz, K.Y. Yun, Nebil Mohammed, Gary M. Shaw, Edward J. Lammer
Software Mentions: 1
Published: over 10 years ago

10.1111/bjd.15584

A novel link between keratoderma and cardiomyopathy: contiguous gene deletion involving the desmoglein gene cluster
Cited by: 1
Author(s): Sara J. Brown, Jannath Ahmed, Simon Zwolinski, Paul Brennan, Neil Rajan
Software Mentions: 1
Published: about 7 years ago

10.1186/s12881-016-0299-x

CNV analysis in 169 patients with bladder exstrophy-epispadias complex
Cited by: 13
Author(s): Catharina von Lowtzow, Andrea Hofmann, Rong Zhang, Florian Marsch, Anne‐Karoline Ebert, Wolfgang Rösch, Raimund Stein, Thomas M. Boemers, Karin Hirsch, Carlo Marcelis, W. F. J. Feitz, Alfredo Brusco, Nicola Migone, Massimo Di Grazia, Susanne Moebus, Markus M. Nöthen, Heiko Reutter, Michael Ludwig, Markus Draaken
Software Mentions: 1
Published: over 8 years ago

10.1002/mgg3.378

Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis
Cited by: 6
Author(s): Jane Mason, Hnin Thanda Aung, Adayapalam Nandini, Rickie G. Woods, David J. Fairbairn, J. Rowell, Diana Young, Rachel Susman, Simon Brown, Valentine J. Hyland, Jeremy Robertson
Software Mentions: 1
Published: over 6 years ago

10.1186/s13039-015-0200-1

Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities
Cited by: 4
Author(s): Carrie Guy, Xianfu Wang, Xin Lu, Lu Jin, Shibo Li
Software Mentions: 1
Published: almost 9 years ago

10.1186/s40643-016-0130-8

Degradation study of lindane by novel strains Kocuria sp. DAB-1Y and Staphylococcus sp. DAB-1W
Cited by: 36
Author(s): Dharmender Kumar, Abhijit Kumar, Jyoti Sharma
Software Mentions: 1
Published: almost 8 years ago

Projects: bioconductor: DECIPHER

Papers Mentioning DECIPHER 415