bioconductor: DECIPHER | Projects

10.1007/s13205-014-0270-5

Delineating bacterial community structure of polluted soil samples collected from cancer prone belt of Punjab, India
Cited by: 10
Author(s): Gagandeep Kaur, Rohit Sharma, Kashmir Singh, Pushpender Kumar Sharma
Software Mentions: 1
Published: almost 10 years ago

10.1128/mBio.01930-20

SARS-CoV-2 Is Restricted by Zinc Finger Antiviral Protein despite Preadaptation to the Low-CpG Environment in Humans
Cited by: 97
Author(s): Rayhane Nchioua, Dorota Kmieć, Janis A. Müller, Carina Conzelmann, Rüdiger Groß, Chad M. Swanson, Stuart J. D. Neil, Steffen Stenger, Daniel Sauter, Jan Münch, Konstantin M. J. Sparrer, Frank Kirchhoff
Software Mentions: 1
Published: about 4 years ago

10.1128/mBio.03540-20

Phylogenomic Analyses of Nucleotide-Sugar Biosynthetic and Interconverting Enzymes Illuminate Cell Wall Composition in Fungi
Cited by: 4
Author(s): Julian G. Schwerdt, H. Qiu, Neil J. Shirley, Alan Little, Vincent Bulone
Software Mentions: 1
Published: over 3 years ago

10.1007/s00439-020-02199-3

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Cited by: 290
Author(s): Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luı́sa Azevedo, Matthew J. Hayden, Sally Heywood, David Millar, Andrew David Phillips, David Neil Cooper
Software Mentions: 1
Published: over 4 years ago

10.1186/s40246-018-0135-9

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly
Cited by: 11
Author(s): Ye Wang, Xueli Wu, Lixin Du, Jin Zheng, Songqing Deng, Xin Bi, Qiuyan Chen, Hong‐Ning Xie, Claude Férec, David Neil Cooper, Yang Luo, Qun Fang, Jianmin Chen
Software Mentions: 1
Published: almost 7 years ago

10.1093/hmg/ddw409

Structural analysis of pathogenic mutations in theDYRK1Agene in patients with developmental disorders
Cited by: 20
Author(s): JM Evers, Roman A. Laskowski, M Bertolli, Jill Clayton‐Smith, Charu Deshpande, Jacqueline Eason, Frances Elmslie, Frances Flinter, Carol Gardiner, J A Hurst, Helen Kingston, Usha Kini, AK Lampe, Derek Lim, Alison Male, Swati Naik, MJ Parker, Simon Price, Leema Robert, Ajoy K. Sarkar, Volker Straub, Geoff Woods, Janet M. Thornton, Caroline F. Wright
Software Mentions: 1
Published: almost 8 years ago

10.1093/hmg/ddaa050

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Cited by: 18
Author(s): Reham Alharatani, Athina Ververi, Ana Beleza-Meireles, Weizhen Ji, Emily K Mis, Quinten Patterson, John N. Griffin, Nabina Bhujel, Caitlin Chang, Abhijit Dixit, Monica Konstantino, Christopher Healy, Sumayyah Hannan, Natsuko Neo, Alex Cash, Dong Liu, Elizabeth Bhoj, Elaine H. Zackai, Ruth Cleaver, Diana Baralle, Meriel McEntagart, Ruth Newbury‐Ecob, Richard Scott, Jane A. Hurst, Ping Yee Billie Au, M. Marlene Hosey, Mustafa K. Khokha, Denise K. Marciano, Saquib A. Lakhani, Karen Liu
Software Mentions: 1
Published: over 4 years ago

10.1093/hmg/ddv625

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain
Cited by: 24
Author(s): Roman A. Laskowski, Nidhi Tyagi, Diana Johnson, Shelagh Joss, Esther Kinning, Catherine McWilliam, Miranda Splitt, Janet M. Thornton, Helen V. Firth, Caroline F. Wright
Software Mentions: 1
Published: almost 9 years ago

10.1093/hmg/ddy084

Society and personal genome data
Cited by: 22
Author(s): Anna Middleton
Software Mentions: 1
Published: over 6 years ago

10.1038/s41396-020-00880-z

Mesopelagic microbial carbon production correlates with diversity across different marine particle fractions
Cited by: 27
Author(s): Chloé Baumas, Frédéric A.C. Le Moigne, Marc Garel, Nagib Bhairy, Sophie Guasco, Virginie Riou, Fabrice Armougom, Hans‐Peter Grossart, Christian Tamburini
Software Mentions: 1
Published: almost 4 years ago

10.1186/s13052-018-0467-z

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies
Cited by: 6
Author(s): Ilenia Maini, Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Edoardo Errichiello, Maria Marinelli, F Franchi, Veronica Bizzarri, Simonetta Rosato, Marzia Pollazzon, Chiara Gelmini, Michela Malacarne, Carlo Fusco, Giancarlo Gargano, Sergio Bernasconi, Orsetta Zuffardi, Livia Garavelli
Software Mentions: 1
Published: over 6 years ago

10.1186/s13052-020-00866-9

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
Cited by: 1
Author(s): Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione
Software Mentions: 1
Published: over 4 years ago

10.1177/2324709615574949

When Feeding Difficulties Are due to Genetics
Cited by: 1
Author(s): Laura Travan, Maria Santa Rocca, F. Buonomo, Lisa Cleva, Vanna Pecile, Angela De Cunto
Software Mentions: 1
Published: almost 10 years ago

10.1186/s13256-019-2235-0

Ralstonia mannitolilytica sepsis: a case report
Cited by: 8
Author(s): Michael Owusu, Godfred Acheampong, Augustina Annan, Kwadwo Sarfo Marfo, Isaac Osei, John Amuasi, Nimako Sarpong, Justin Im, Ondari D. Mogeni, Hsin-Ying Chiang, Chih-Horng Kuo, Hyon Jin Jeon, Ursula Panzner, Se Eun Park, Florian Marks, Ellis Owusu‐Dabo, Yaw Adu‐Sarkodie
Software Mentions: 1
Published: about 5 years ago

10.1186/s13256-017-1230-6

Pseudomonas oryzihabitans sepsis in a 1-year-old child with multiple skin rashes: a case report
Cited by: 8
Author(s): Michael Owusu, Ellis Owusu‐Dabo, Godfred Acheampong, Isaac Osei, John Amuasi, Nimako Sarpong, Augustina Annan, Hsin-Ying Chiang, Chih-Horng Kuo, Se Eun Park, Florian Marks, Yaw Adu‐Sarkodie
Software Mentions: 1
Published: over 7 years ago

10.1136/jmedgenet-2015-103393

Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
Cited by: 57
Author(s): Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo-Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C. Taylor, Malcolm F. Howard, David A. Keays, Aman Singh Sohal, Susanne J. Kühl, Usha Kini, Alisdair McNeill
Software Mentions: 1
Published: about 9 years ago

10.3390/ijms20061459

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome
Cited by: 20
Author(s): Kyle Walter Davis, Moises A. Serrano, Sara Loddo, Catherine Robinson, Viola Alesi, Bruno Dallapiccola, Antonio Novelli, Merlin G. Butler
Software Mentions: 1
Published: over 5 years ago

10.1186/s11689-016-9177-2

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder
Cited by: 21
Author(s): Sara Busquets Estruch, Sarah A. Graham, Swathi Mookonda Chinnappa, Pelagia Derizioti, Simon E. Fisher
Software Mentions: 1
Published: almost 8 years ago

10.1186/s11689-020-09325-2

Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia
Cited by: 14
Author(s): Kanako Ishizuka, Tomoyuki Yoshida, Takeshi Kawabata, Ayako Imai, Hisashi Mori, Hiroki Kimura, Toshiya Inada, Yuko Okahisa, Jun Egawa, Masahide Usami, Itaru Kushima, Mako Morikawa, Takashi Okada, Masashi Ikeda, Branko Aleksić, Daisuke Mori, Toshiyuki Someya, Nakao Iwata, Norio Ozaki
Software Mentions: 1
Published: about 4 years ago

10.1186/s11689-016-9170-9

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation
Cited by: 55
Author(s): Matthew J. Gazzellone, Mehdi Zarrei, Christie L. Burton, Susan Walker, Mohammed Uddin, S‐M Shaheen, Julie Coste, Rageen Rajendram, Reva Schachter, Marlena Colasanto, Gregory L. Hanna, David Rosenberg, Noam Soreni, Kate D. Fitzgerald, Christian R. Marshall, Janet A. Buchanan, Daniele Merico, Paul Arnold, Stephen W. Scherer
Software Mentions: 1
Published: about 8 years ago

10.1186/s11689-016-9144-y

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs
Cited by: 23
Author(s): Madita M. Schumann, Andrea Hofmann, Sophia K. Krutzke, Alina C. Hilger, Florian Marsch, Dietlinde Stienen, Ulrich Gembruch, Michael Ludwig, Waltraut M. Merz, Heiko Reutter
Software Mentions: 1
Published: over 8 years ago

10.1186/s11689-019-9263-3

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
Cited by: 5
Author(s): Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, Dimitri J. Stavropoulos, Hope Twede, Joris Robert Vermeesch, Jacob Vorstman, Stephen W. Scherer
Software Mentions: 1
Published: almost 6 years ago

10.1002/path.4926

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type
Cited by: 43
Author(s): Edoardo Errichiello, Noor Hussein Mohammad Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Giglio, Patrizia Morbini, Orsetta Zuffardi
Software Mentions: 1
Published: over 7 years ago

10.1515/med-2020-0199

Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report
Cited by: 0
Author(s): Shuang Chen, Yang Yu, Han Zhang, Leilei Li, Yuting Jiang, Ruizhi Liu, Hongguo Zhang
Software Mentions: 1
Published: about 4 years ago

10.18502/jri.v21i4.4335

Intra-individual Genomic Variation Analysis in Tissues (Blood vs. Testis) Through SNP Microarray: A Case Report of Two Patients with Idiopathic Sertoli Cell Only Syndrome (SCOS)
Cited by: 0
Author(s): Aiyush Sharma, Ashutosh Halder, Seema Kaushal, Manish Jain
Software Mentions: 1
Published: about 4 years ago

10.1186/s13023-020-1317-9

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Cited by: 15
Author(s): Roser Urreizti, Estrella López-Martín, Antonio Martínez-Monseny, Montse Pujadas, Laura Castilla‐Vallmanya, Luís A. Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martı́nez-Delgado, Manuel Posada-De-La-Paz, Javier Alonso, Purificación Marín-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo‐Sánchez, Susana Balcells
Software Mentions: 1
Published: almost 5 years ago

10.1186/s13023-020-01536-z

Diagnosis of Rare Diseases: a scoping review of clinical decision support systems
Cited by: 21
Author(s): Jannik Schaaf, Martin Sedlmayr, Johanna Schaefer, Holger Storf
Software Mentions: 1
Published: about 4 years ago

10.1186/s13023-021-01873-7

Clinical and genetic findings in patients with congenital cataract and heart diseases
Cited by: 3
Author(s): Xinru Li, Nuo Si, Zixun Song, Yi Ren, Wei Xiao
Software Mentions: 1
Published: over 3 years ago

10.1186/s12967-020-02258-3

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants
Cited by: 19
Author(s): María González del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Enrique Rodríguez de la Rúa, Salud Borrego, Guillermo Antiñolo
Software Mentions: 1
Published: almost 5 years ago

10.1128/mBio.00111-20

In Vivo Assay Reveals Microbial OleA Thiolases Initiating Hydrocarbon and β-Lactone Biosynthesis
Cited by: 3
Author(s): Megan D. Smith, Serina L. Robinson, Mandkhai Molomjamts, Lawrence P. Wackett
Software Mentions: 1
Published: over 4 years ago

10.1186/s13568-015-0128-1

Identification of genes coding for putative wax ester synthase/diacylglycerol acyltransferase enzymes in terrestrial and marine environments
Cited by: 6
Author(s): Mariana P. Lanfranconi, Adrián F. Álvarez, Héctor M. Alvarez
Software Mentions: 1
Published: over 9 years ago

10.1186/s13568-015-0167-7

Glycolipids produced by Rouxiella sp. DSM 100043 and isolation of the biosurfactants via foam-fractionation
Cited by: 9
Author(s): Johannes H. Kügler, Claudia Muhle‐Goll, Silla Hansen, Annika R. Völp, Frank Kirschhöfer, Boris Kühl, Gerald Brenner‐Weiß, Burkhard Luy, Christoph Syldatk, Rudolf Hausmann
Software Mentions: 1
Published: almost 9 years ago

10.1016/j.ajhg.2018.12.015

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Cited by: 143
Author(s): Caroline F. Wright, Ben C. West, Marcus A. Tuke, Samuel E. Jones, Kashyap Patel, Thomas W Laver, Robin N Beaumont, Jessica Tyrrell, Andrew R. Wood, Timothy M. Frayling, Andrew T. Hattersley, Michael N. Weedon
Software Mentions: 1
Published: almost 6 years ago

10.1002/ajmg.a.33557

Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
Cited by: 66
Author(s): Heather C Mefford, Neil Shafer, Francesca Antonacci, Jesse Tsai, Sarah S. Park, Anne V. Hing, Mark J. Rieder, Matthew D. Smyth, Matthew L. Speltz, Evan E. Eichler, Michael L. Cunningham
Software Mentions: 1
Published: over 14 years ago

10.1002/ajmg.b.32285

Duplications in ADHD patients harbour neurobehavioural genes that are co‐expressed with genes associated with hyperactivity in the mouse
Cited by: 1
Author(s): Avigail Taylor, Julia Steinberg, Caleb Webber
Software Mentions: 1
Published: almost 10 years ago

10.1111/ahg.12279

Deletion at 12q12 increases the risk of developmental delay and intellectual disability
Cited by: 7
Author(s): Ying Weng, Xiaoping Luo, Ling Hou
Software Mentions: 1
Published: about 6 years ago

10.3390/antibiotics7030083

Natural Products from Actinobacteria Associated with Fungus-Growing Termites
Cited by: 51
Author(s): René Benndorf, Huijuan Guo, Elisabeth Sommerwerk, Christiane Weigel, María García‐Altares, Karin Martin, Haofu Hu, Michelle Küfner, Z. Wilhelm de Beer, Michael Poulsen, Christine Beemelmanns
Software Mentions: 1
Published: about 6 years ago

10.1186/s12859-019-2636-5

GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from high-throughput sequencing projects
Cited by: 2
Author(s): Mohammad I. Zia, Paul Spurgeon, Adrian Levesque, Thomas R. Furlani, Jianxin Wang
Software Mentions: 1
Published: almost 6 years ago

10.1186/s12859-015-0749-z

DECIPHER: harnessing local sequence context to improve protein multiple sequence alignment
Cited by: 240
Author(s): Erik S. Wright
Software Mentions: 1
Published: about 9 years ago

10.1186/s12896-019-0582-y

Olive fruit fly rearing procedures affect the vertical transmission of the bacterial symbiont Candidatus Erwinia dacicola
Cited by: 8
Author(s): Patrizia Sacchetti, Roberta Pastorelli, Gaia Bigiotti, Roberto Guidi, Sara Ruschioni, Carlo Viti, Antonio Belcari
Software Mentions: 1
Published: almost 5 years ago

10.1186/s12896-019-0583-x

Horizontal transfer and finalization of a reliable detection method for the olive fruit fly endosymbiont, Candidatus Erwinia dacicola
Cited by: 7
Author(s): Gaia Bigiotti, Roberta Pastorelli, Roberto Guidi, Antonio Belcari, Patrizia Sacchetti
Software Mentions: 1
Published: almost 5 years ago

10.1186/1471-2164-14-544

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability
Cited by: 18
Author(s): Ying Qiao, Chansonette Badduke, Eloi Mercier, Lewis Sm, Paul Pavlidis, Evica Rajcan‐Separovic
Software Mentions: 1
Published: over 11 years ago

10.1186/s12864-016-3217-x

Quality filtering of Illumina index reads mitigates sample cross-talk
Cited by: 98
Author(s): Erik S. Wright, Kalin Vetsigian
Software Mentions: 1
Published: about 8 years ago

10.1186/s12864-021-08011-4

AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs
Cited by: 5
Author(s): Chunna Fan, Zhonghua Wang, Yan Sun, Jun Sun, Xi Liu, Licheng Kang, Yingshuo Xu, Manqiu Yang, Wentao Dai, Lijie Song, Xiaoming Wei, Jiale Xiang, Hui Huang, Meizhen Zhou, Fanwei Zeng, Lin Huang, Zhengfeng Xu, Zhiyu Peng
Software Mentions: 1
Published: about 3 years ago

10.1186/s12864-018-4577-1

CNVs are associated with genomic architecture in a songbird
Cited by: 10
Author(s): Vinícius da Silva, Veronika N. Laine, Mirte Bosse, Kees van Oers, Bert Dibbits, Marcel E. Visser, R.P.M.A. Crooijmans, M.A.M. Groenen
Software Mentions: 1
Published: over 6 years ago

10.1186/s12864-016-2569-6

Systematic identification of phenotypically enriched loci using a patient network of genomic disorders
Cited by: 7
Author(s): Armando Reyes-Palomares, Aníbal Bueno, Rocío Rodríguez López, Miguel Ángel Medina, Francisca Sánchez‐Jiménez, Manuel Corpas, Juan A. G. Ranea
Software Mentions: 1
Published: over 8 years ago

10.1186/s12881-018-0705-7

NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
Cited by: 5
Author(s): Chun-Chun Hu, Yunjun Sun, Chunxue Liu, Bo Zhou, Chunyang Li, Qiong Xu, Xiu Xu
Software Mentions: 1
Published: about 6 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

10.1186/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

10.1186/s12881-019-0946-0

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
Cited by: 7
Author(s): Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca
Software Mentions: 1
Published: almost 5 years ago

10.1186/1471-2350-13-19

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature
Cited by: 36
Author(s): Tom B. Davidson, Pedro A. Sanchez‐Lara, Linda M. Randolph, Mark D. Krieger, Shiqi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich‐Epstein
Software Mentions: 1
Published: over 12 years ago

10.1186/s12881-019-0810-2

Functional characterization of two enhancers located downstream FOXP2
Cited by: 6
Author(s): Raúl Torres-Ruíz, Antonio Benítez‐Burraco, Marta Martínez-Lage, Sandra Rodríguez‐Perales, Paloma García-Bellido
Software Mentions: 1
Published: over 5 years ago

10.1186/s12920-019-0625-1

HPOAnnotator: improving large-scale prediction of HPO annotations by low-rank approximation with HPO semantic similarities and multiple PPI networks
Cited by: 7
Author(s): Junning Gao, Lizhi Liu, Shuwei Yao, Xiaodi Huang, Hiroshi Mamitsuka, Shuifang Zhu
Software Mentions: 1
Published: almost 5 years ago

10.1186/s12920-021-00945-8

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
Cited by: 1
Author(s): Xuejiao Chen, Huihui Xu, Wei-Wu Shi, Feng Wang, Fenfen Xu, Yang Zhang, Jun Gan, Xiong Tian, Baojun Chen, Meizhen Dai
Software Mentions: 1
Published: over 3 years ago

10.1186/s12920-015-0163-4

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population
Cited by: 19
Author(s): Yu An, Wei Duan, Guoying Huang, Xiaoli Chen, Li Li, Chenxia Nie, Jia‐Woei Hou, Yonghao Gui, Yiming Wu, Feng Zhang, Yiping Shen, Bai-Lin Wu, Hongyan Wang
Software Mentions: 1
Published: almost 9 years ago

10.1186/s12920-020-0726-x

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Cited by: 11
Author(s): Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen, Min Sheng
Software Mentions: 1
Published: over 4 years ago

10.1186/s12911-020-1060-0

A decision tree to improve identification of pathogenic mutations in clinical practice
Cited by: 18
Author(s): Priscilla Machado do Nascimento, Inácio Gomes Medeiros, Raul Maia Falcão, Beatriz Stransky, Jorge Estefano Santana de Souza
Software Mentions: 1
Published: over 4 years ago

10.1186/s12911-018-0664-0

Comprehensive user requirements engineering methodology for secure and interoperable health data exchange
Cited by: 25
Author(s): Pantelis Natsiavas, Jens Rasmussen, Maja Voss-Knude, Konstantinos Votis, Luigi Coppolino, Paolo Campegiani, Isaac Cano, David Marí, Giuliana Faiella, Fabrizio Clemente, Marco Nalin, Evangelos Grivas, Oana Stan, Erol Gelenbe, Jos Dumortier, Jan Petersen, Dimitrios Tzovaras, Luigi Romano, Ioannis Komnios
Software Mentions: 1
Published: about 6 years ago

10.1186/s12866-018-1215-7

Antimicrobial potentiality of actinobacteria isolated from two microbiologically unexplored forest ecosystems of Northeast India
Cited by: 45
Author(s): Das Ranjita, Wahengbam Romi, Rictika Das, Hridip Kumar Sharma, Debajit Thakur
Software Mentions: 1
Published: over 6 years ago

10.1186/s12866-021-02278-z

Diversity of culturable bacteria endowed with antifungal metabolites biosynthetic characteristics associated with tea rhizosphere soil of Assam, India
Cited by: 4
Author(s): Jintu Dutta, Debajit Thakur
Software Mentions: 1
Published: over 3 years ago

10.1186/s13104-018-3346-1

Gonococcal sepsis in a 32-year-old female: a case report
Cited by: 5
Author(s): Michael Owusu, Kwadwo Sarfo Marfo, Godfred Acheampong, Abednego Arthur, Nimako Sarpong, Justin Im, Ondari D. Mogeni, Augustina Annan, Hsin-Ying Chiang, Chih-Horng Kuo, Se Eun Park, Florian Marks, Ellis Owusu‐Dabo, Yaw Adu‐Sarkodie
Software Mentions: 1
Published: over 6 years ago

10.1186/1746-6148-8-231

Pyrosequencing of 16S rRNA genes in fecal samples reveals high diversity of hindgut microflora in horses and potential links to chronic laminitis
Cited by: 131
Author(s): Samantha M. Steelman, Bhanu P. Chowdhary, Scot E. Dowd, Jan S. Suchodolski, Jan E. Janečka
Software Mentions: 1
Published: almost 12 years ago

10.1007/s10519-018-9902-6

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders
Cited by: 21
Author(s): Marina Viñas-Jornet, Susanna Esteba-Castillo, Neus Baena, Núria Ribas-Vidal, Anna Ruiz, David Torrents-Rodas, Elisabeth Gabau, Elisabet Vilella, Lourdes Martorell, Lluı́s Armengol, Ramón Novell, Míriam Guitart
Software Mentions: 1
Published: over 6 years ago

10.1007/s10532-017-9796-7

Low temperature, autotrophic microbial denitrification using thiosulfate or thiocyanate as electron donor
Cited by: 37
Author(s): Elias Broman, Abbtesaim Jawad, Xiaofen Wu, Stephan Christel, Gaofeng Ni, Margarita López-Fernández, Jan-Eric Sundkvist, Mark Dopson
Software Mentions: 1
Published: over 7 years ago

10.3390/biology2020514

Composition, Diversity, and Stability of Microbial Assemblages in Seasonal Lake Ice, Miquelon Lake, Central Alberta
Cited by: 2
Author(s): Anna R. Bramucci, Shoufa Han, Justin Beckers, Christian Haas, Brian Lanoil
Software Mentions: 1
Published: over 11 years ago

10.7705/biomedica.5354

Importancia de la determinación de variantes en el número de copias en neonatos con aneuploidías autosómicas
Cited by: 0
Author(s): Hugo Abarca, Milana Trubnykova, Félix Chavesta, Marco Ordóñez, Evelina Rondón
Software Mentions: 1
Published: over 3 years ago

10.3390/biom10071080

Analysis of Protein Disorder Predictions in the Light of a Protein Structural Alphabet
Cited by: 9
Author(s): Alexandre G. de Brevern
Software Mentions: 1
Published: over 4 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

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/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

10.1186/s12947-019-0159-x

Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis
Cited by: 8
Author(s): Peng Ruan, Jin Zheng, Hong‐Ning Xie, Miao He, Min Lin
Software Mentions: 1
Published: over 5 years ago

10.1155/2015/259627

Identification ofSLC22A5Gene Mutation in a Family with Carnitine Uptake Defect
Cited by: 12
Author(s): Hatice Mutlu-Albayrak, Judit Bene, Mehmet Burhan Oflaz, Tijen Tanyalçın, Hüseyîn Çaksen, Béla Melegh
Software Mentions: 1
Published: almost 10 years ago

10.1016/S0140-6736(18)31940-8

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Cited by: 394
Author(s): Jenny Lord, Dominic McMullan, Ruth Y Eberhardt, Gabriele Rinck, S. Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, Sarah Robart, Ian Berry, Kate Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L. Edwards, Carol Gardiner, Alex Henderson, Simon Holden, Tessa Homfray, Tracy Lester, Rebecca Lewis, Ruth Newbury‐Ecob, Katrina Prescott, Oliver Quarrell, Simon Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine J. Tooley, Pradeep Vasudevan, Astrid Weber, Diana Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard Scott, Mark D. Kilby, Lyn S. Chitty, Matthew E. Hurles, Eamonn R. Maher
Software Mentions: 1
Published: almost 6 years ago

10.3390/md12020799

Isolation and Characterization of Anti-Adenoviral Secondary Metabolites from Marine Actinobacteria
Cited by: 24
Author(s): Mårten Strand, Marcus Carlsson, Hanna Uvell, Md. Kamrul Islam, Karin Edlund, Inger Cullman, Bjørn Altermark, Ya-Fang Mei, Mikael Elofsson, Nils Peder Willassen, Göran Wadell, Fredrik Almqvist
Software Mentions: 1
Published: almost 11 years ago

10.1097/MD.0000000000024224

Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect
Cited by: 1
Author(s): Fagui Yue, Shu Deng, Qi Xi, Yuting Jiang, Jing He, Hongguo Zhang, Ruizhi Liu
Software Mentions: 1
Published: almost 4 years ago

10.1186/s12934-017-0797-3

Marinobacter sp. from marine sediments produce highly stable surface-active agents for combatting marine oil spills
Cited by: 25
Author(s): Noura Raddadi, Lucia Giacomucci, Grazia Totaro, Fabio Fava
Software Mentions: 1
Published: about 7 years ago

10.1186/s12934-016-0477-8

Biological synthesis of fluorescent nanoparticles by cadmium and tellurite resistant Antarctic bacteria: exploring novel natural nanofactories
Cited by: 63
Author(s): Dino Plaza, Carlos Gallardo, Y. D. Straub, Denisse Bravo, José M. Pérez-Donoso
Software Mentions: 1
Published: over 8 years ago

10.1264/jsme2.ME14139

Secondary Metabolites Control the Associated Bacterial Communities of Saprophytic Basidiomycotina Fungi
Cited by: 22
Author(s): Maira Peres de Carvalho, Patrick Türck, Wolf‐Rainer Abraham
Software Mentions: 1
Published: almost 10 years ago

10.1002/mbo3.850

A glimpse of the prokaryotic diversity of the Large Aral Sea reveals novel extremophilic bacterial and archaeal groups
Cited by: 10
Author(s): Vyacheslav Shurigin, Աննա Հակոբյան, Hovik Panosyan, Dilfuza Egamberdieva, Kakhramon Davranov, Nils Kåre Birkeland
Software Mentions: 1
Published: over 5 years ago

10.1002/mbo3.386

Analysis of propionate‐degrading consortia from agricultural biogas plants
Cited by: 39
Author(s): Stephan Ahlert, Rita Zimmermann, Johannes Ebling, Helmut König
Software Mentions: 1
Published: over 8 years ago

10.1002/mbo3.174

Cuticles of European and American lobsters harbor diverse bacterial species and differ in disease susceptibility
Cited by: 18
Author(s): Miranda M. A. Whitten, Charlotte E. Davies, Anita Kim, Michael F. Tlusty, Emma C. Wootton, Andrei Y. Chistoserdov, Andrew F. Rowley
Software Mentions: 1
Published: over 10 years ago

10.1186/s40168-018-0521-5

IDTAXA: a novel approach for accurate taxonomic classification of microbiome sequences
Cited by: 282
Author(s): Adithya Murali, Aniruddha Bhargava, Erik S. Wright
Software Mentions: 1
Published: over 6 years ago

10.1186/s13229-021-00465-3

Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Cited by: 18
Author(s): Behrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, Maureen Mulhern, Xiaowei Xu, Lambertus Klei, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Bernie Devlin, Joseph D. Buxbaum
Software Mentions: 1
Published: about 3 years ago

10.1186/s13229-015-0015-2

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder
Cited by: 27
Author(s): Anne‐Claude Tabet, Alain Verloès, Marion Pilorge, Elsa Delaby, Richard Delorme, Gudrun Nygren, Françoise Devillard, Marion Gérard, Sandrine Passemard, Delphine Héron, Jean‐Pierre Siffroi, Aurélia Jacquette, Andrée Delahaye, Laurence Perrin, Céline Dupont, Azzedine Aboura, Pierre Bitoun, Mary Coleman, Marion Leboyer, Christopher Gillberg, Brigitte Benzacken, Catalina Betancur
Software Mentions: 1
Published: over 9 years ago

10.1186/s13039-019-0436-2

Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation
Cited by: 2
Author(s): Şule Altıner, Nüket Yürür Kutlay
Software Mentions: 1
Published: over 5 years ago

10.1186/s13039-016-0289-x

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
Cited by: 11
Author(s): Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, Susanna Esposito, Donatella Milani
Software Mentions: 1
Published: about 8 years ago

10.1186/1755-8166-5-17

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
Cited by: 41
Author(s): Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer, Patricia A. Eng, Jayant Shenai, Małgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A. Rosenfeld, Roger E. Stevenson, Sung Hae L. Kang, Sau Wai Cheung, Arthur L. Beaudet, Paweł Stankiewicz
Software Mentions: 1
Published: over 12 years ago

10.1186/s13039-018-0388-y

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability
Cited by: 4
Author(s): Luca Lovrečić, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor, Borut Peterlin
Software Mentions: 1
Published: over 6 years ago

10.1186/s13039-017-0326-4

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
Cited by: 5
Author(s): Jie Hu, Zhishuo Ou, Elena Infante, Sally J. Kochmar, Suneeta Madan‐Khetarpal, Lori Hoffner, Shafagh Parsazad, Urvashi Surti
Software Mentions: 1
Published: over 7 years ago

10.1186/s13039-018-0375-3

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
Cited by: 11
Author(s): A. A. Kashevarova, E. O. Belyaeva, А. М. Никонов, Olga Plotnikova, N. A. Skryabin, Tatiana Nikitina, S. A. Vasilyev, Yulia Yakovleva, Н. П. Бабушкина, М. Е. Лопаткина, Р. Р. Савченко, Л. П. Назаренко, I. N. Lebedev
Software Mentions: 1
Published: over 6 years ago

10.1186/s13039-020-00519-w

Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature
Cited by: 2
Author(s): Eleonora Marchina, Michela Forti, Mariella Tonelli, Stefania Maccarini, Francesca Malvestiti, Chiara Piantoni, Elena Filippini, Elisa Fazzi, Giuseppe Borsani
Software Mentions: 1
Published: almost 4 years ago

10.1186/s13039-016-0267-3

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
Cited by: 6
Author(s): Jing Liu, Hao Hu, Na Ma, Zhengjun Jia, Yuchun Zhou, Junfeng Hu, Hua Wang
Software Mentions: 1
Published: over 8 years ago

10.1186/s13039-017-0352-2

Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene
Cited by: 3
Author(s): Roberto Valli, Luciana Vinti, Annalisa Frattini, Marco Fabbri, Giuseppe Montalbano, Carla Olivieri, Antonella Minelli, Franco Locatelli, Francesco Pasquali, Emanuela Maserati
Software Mentions: 1
Published: almost 7 years ago

10.1186/s13039-020-00513-2

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication
Cited by: 0
Author(s): Abul Kalam Azad, Lindsay Yanakakis, Samantha Issleb, Jessica Turina, Kelli Drabik, Christina Bonner, Eve Simi, Andrew Wagner, Morry Fiddler, Rizwan Naeem
Software Mentions: 1
Published: about 4 years ago

10.1186/s13039-015-0124-9

Clinical, cytogenetic and molecular study of a case of ring chromosome 10
Cited by: 6
Author(s): Živilė Čiuladaitė, Birutė Burnytė, Danutė Vansevičiūtė, Evelina Dagytė, Vaidutis Kučinskas, Algirdas Utkus
Software Mentions: 1
Published: over 9 years ago

10.1186/s13039-016-0252-x

Clinical and molecular characterization of a de novo 19p13.3 microdeletion
Cited by: 6
Author(s): Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Raffaella Stallone, Teresa Palladino, Leopoldo Zelante, Massimo Carella
Software Mentions: 1
Published: over 8 years ago

10.1186/1755-8166-7-41

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion
Cited by: 8
Author(s): Annalisa Vetro, Sara Pagani, Margherita Silengo, Mariasavina Severino, Elena Bozzola, Cristina Meazza, Orsetta Zuffardi, Mauro Bozzola
Software Mentions: 1
Published: over 10 years ago

10.1186/s13039-021-00552-3

Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay
Cited by: 1
Author(s): Dongmei Hao, Yajuan Li, Lisha Chen, Xiliang Wang, Mengxing Wang, Yuexin Yu
Software Mentions: 1
Published: over 3 years ago

10.1186/s13039-018-0391-3

Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies
Cited by: 6
Author(s): Wenfu Li, Xianfu Wang, Shibo Li
Software Mentions: 1
Published: over 6 years ago

10.1186/s13039-014-0097-0

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
Cited by: 50
Author(s): A. A. Kashevarova, Л. П. Назаренко, Soren Schultz-Pedersen, N. A. Skryabin, Olga A. Salyukova, Nataliya N. Chechetkina, Е. Н. Толмачева, А. А. Рудко, Pamela Magini, Claudio Graziano, Giovanni Romeo, Shelagh Joss, Zeynep Tümer, I. N. Lebedev
Software Mentions: 1
Published: almost 10 years ago

Projects: bioconductor: DECIPHER

Papers Mentioning DECIPHER 415