bioconductor: DECIPHER | Projects

10.1186/s13039-018-0363-7

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
Cited by: 32
Author(s): Carla Sustek D’Angelo, Monica Castro Varela, Cláudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Perez, Charles Marques Lourenço, Chong Kim, Débora Romeo Bertola, Fernando Kok, Luis García‐Alonso, Célia Priszkulnik Koiffmann
Software Mentions: 1
Published: almost 7 years ago

10.1186/s13039-015-0151-6

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome
Cited by: 9
Author(s): Laurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, Laurence Faivre, Marie Eliade, Muriel Payet, Clémence Ragon, Julien Thévenon, Bernard Aral, Sylviane Ragot, Azarnouche Ardalan, Nabila Dhouibi, Candace Bensignor, Christel Thauvin‐Robinet, Salima El Chehadeh, Patrick Callier
Software Mentions: 1
Published: over 9 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

10.1002/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

10.1002/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

10.1002/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/mgg3.1072

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/mgg3.1287

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

10.1002/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/mgg3.233

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

10.1002/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/mgg3.12

Prevalence of selected genomic deletions and duplications in a <scp>F</scp>rench–<scp>C</scp>anadian population‐based sample of newborns
Cited by: 17
Author(s): Tracy Tucker, Sylvie Giroux, Valérie Clement, Sylvie Langlois, Jan M. Friedman, François Rousseau
Software Mentions: 1
Published: over 11 years ago

10.1002/mgg3.507

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance
Cited by: 22
Author(s): Karen Woodward, Julie Stampalia, Hannah K. Vanyai, Hashika Rijhumal, Kim Potts, Fiona Taylor, Joanne Peverall, Tanya Grumball, Soruba Sivamoorthy, Hamid Alinejad‐Rokny, John Wray, Andrew J. O. Whitehouse, Lakshmi Nagarajan, Jacqueline Scurlock, Sabine Afchani, Matthew Edwards, Ashleigh Murch, John Beilby, Gareth Baynam, Cathy Kiraly-Borri, Fiona McKenzie, Julian Ik‐Tsen Heng
Software Mentions: 1
Published: almost 6 years ago

10.1002/mgg3.304

Protein structure and phenotypic analysis of pathogenic and population missense variants inSTXBP1
Cited by: 28
Author(s): Mohnish Suri, Jochem M. G. Evers, Roman A. Laskowski, Sinéad O’Brien, Kate Baker, Jill Clayton‐Smith, Tabib Dabir, Dragana Josifova, Shelagh Joss, Bronwyn Kerr, Alison Kraus, Meriel McEntagart, Jenny Morton, Audrey Smith, Miranda Splitt, Janet M. Thornton, Caroline F. Wright
Software Mentions: 1
Published: over 7 years ago

10.1007/s11270-016-3216-1

Integrated Anaerobic-Aerobic Biodegradation of Multiple Contaminants Including Chlorinated Ethylenes, Benzene, Toluene, and Dichloromethane
Cited by: 48
Author(s): Miho Yoshikawa, Ming Zhang, Koki Toyota
Software Mentions: 1
Published: almost 8 years ago

10.12688/wellcomeopenres.10942.1

Returning genome sequences to research participants: Policy and practice
Cited by: 17
Author(s): Caroline F. Wright, Anna Middleton, Jeffrey C. Barrett, Helen V. Firth, David R. FitzPatrick, Matthew E. Hurles, Michael Parker
Software Mentions: 1
Published: over 7 years ago

10.12688/wellcomeopenres.15090.2

Genomic variant sharing: a position statement
Cited by: 22
Author(s): Caroline F. Wright, James S. Ware, Anneke Lucassen, Alison Hall, Anna Middleton, Nazneen Rahman, Sian Ellard, Helen V. Firth
Software Mentions: 1
Published: almost 5 years ago

10.7717/peerj.7467

Dynamics of a methanol-fed marine denitrifying biofilm: 2—impact of environmental changes on the microbial community
Cited by: 8
Author(s): Richard Villemur, Geneviève Payette, Valérie Geoffroy, Florian Mauffrey, Christine Martineau
Software Mentions: 1
Published: over 5 years ago

10.1371/journal.pgen.1006957

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
Cited by: 56
Author(s): P. Blanchet, Martina Bebin, Shaam Bruet, Gregory M. Cooper, Michelle L. Thompson, Bénédicte Duban‐Bedu, Bénédicte Gerard, Amélie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter D. Turnpenny, Michael P. Williamson, Yves Alembik, Eric Glasgow, Alisdair McNeill
Software Mentions: 1
Published: about 7 years ago

10.1371/journal.pgen.1005012

Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders
Cited by: 10
Author(s): Tallulah Andrews, Stephen Meader, Anneke Vulto-van Silfhout, Avigail Taylor, Julia Steinberg, Jayne Y. Hehir-Kwa, Rolph Pfundt, Nicole de Leeuw, Bert B.A. de Vries, Caleb Webber
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0176459

Environmental DNA assays for the sister taxa sauger (Sander canadensis) and walleye (Sander vitreus)
Cited by: 2
Author(s): Joseph C. Dysthe, Kellie J. Carim, Michael P. Ruggles, Kevin S. McKelvey, Michael K. Young, Michael K. Schwartz
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0092604

High Concentrations of Methyl Fluoride Affect the Bacterial Community in a Thermophilic Methanogenic Sludge
Cited by: 3
Author(s): Liping Hao, Fan Lü, Qing Wu, Liming Shao, Pinjing He
Software Mentions: 1
Published: over 10 years ago

10.1371/journal.pone.0161664

Environmental DNA Marker Development with Sparse Biological Information: A Case Study on Opossum Shrimp (Mysis diluviana)
Cited by: 17
Author(s): Kellie J. Carim, Kyle R. Christianson, Kevin M. McKelvey, William M. Pate, Douglas Silver, Brett M. Johnson, Benjamin Thomas. Galloway, Michael K. Young, Michael K. Schwartz
Software Mentions: 1
Published: about 8 years ago

10.1371/journal.pone.0165174

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways
Cited by: 16
Author(s): Robert J. Sicko, Marilyn L. Browne, Shannon L. Rigler, Charlotte M. Druschel, Gang Liu, Ruzong Fan, Paul A. Romitti, Michèle Casini, Denise M. Kay, Lawrence C. Brody, James L. Mills
Software Mentions: 1
Published: about 8 years ago

10.1371/journal.pone.0061365

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders
Cited by: 99
Author(s): Maria Tropeano, Joo Wook Ahn, Richard Dobson, Gerome Breen, James Rucker, Abhishek Dixit, Deb K. Pal, Peter McGuffin, Anne Farmer, Peter S. White, Joris Andrieux, Evangelos Vassos, Caroline Mackie Ogilvie, Sarah Curran, David A. Collier
Software Mentions: 1
Published: over 11 years ago

10.1371/journal.pone.0103961

Microbial Population Analysis of the Salivary Glands of Ticks; A Possible Strategy for the Surveillance of Bacterial Pathogens
Cited by: 87
Author(s): Yongjin Qiu, Ryo Nakao, Aiko Ohnuma, Fumihiko Kawamori, Chihiro Sugimoto
Software Mentions: 1
Published: over 10 years ago

10.1371/journal.pone.0133636

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases
Cited by: 26
Author(s): Yanqiu Li, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Liangcheng Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0149646

Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior
Cited by: 5
Author(s): Matthew D. Shirley, Laurence P. Frelin, José Soria López, Anne Jedlicka, Amanda Dziedzic, Michelle A. Frank‐Crawford, Wayne Silverman, Louis P. Hagopian, Jonathan Pevsner
Software Mentions: 1
Published: over 8 years ago

10.1371/journal.pone.0170403

Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X
Cited by: 19
Author(s): Barbara R. Migeon, M Beer, Hans T. Björnsson
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0206851

An improved environmental DNA assay for bull trout (Salvelinus confluentus) based on the ribosomal internal transcribed spacer I
Cited by: 24
Author(s): Joseph C. Dysthe, Thomas W. Franklin, Kevin S. McKelvey, Michael K. Young, Michael K. Schwartz
Software Mentions: 1
Published: about 6 years ago

10.1371/journal.pone.0047597

Genetic Variation in TLR Genes in Ugandan and South African Populations and Comparison with HapMap Data
Cited by: 7
Author(s): Allison R. Baker, Feiyou Qiu, April Randhawa, David Horné, Mark D. Adams, Muki Shey, Jill S. Barnholtz‐Sloan, Harriet Mayanja‐Kizza, Gilla Kaplan, Willem A. Hanekom, W. Henry Boom, Thomas R. Hawn, Catherine M. Stein
Software Mentions: 1
Published: about 12 years ago

10.1371/journal.pone.0181465

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
Cited by: 28
Author(s): Irene Mademont‐Soler, Jesús Matés, Raquel Yotti, María Ángeles Espinosa, Alexandra Pérez‐Serra, Ana Isabel Fernandez-Avila, Mònica Coll, Irene Méndez, Anna Iglesias, Bernat del Olmo, Helena Riuró, Sofía Cuenca, Catarina Allegue, Óscar Campuzano, Fernando Pico, Carles Ferrer-Costa, Patricia Álvarez, Sergio Castillo, Pablo García‐Pavía, Esther González-López, Laura Padrón-Barthe, Aránzazu Díaz de Bustamante, María Teresa Darnaude, José Ignacio González-Hevia, Josép Brugada, Francisco Fernández‐Avilés, Ramón Brugada
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0223834

Honey bee microbiome associated with different hive and sample types over a honey production season
Cited by: 23
Author(s): Sladjana Subotic, Andrew M. Boddicker, Vy Nguyen, James W. Rivers, Christy E. Briles, Annika C. Mosier
Software Mentions: 1
Published: about 5 years ago

10.1371/journal.pone.0136812

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor
Cited by: 8
Author(s): Inês Rugani Ribeiro de Castro, Lara Rodríguez‐Laguna, M. Carmen Crespo, Elena Vallespín, María Palomares‐Bralo, Rubén Martín‐Arenas, Inmaculada Rueda-Arenas, Paulo Antônio Silvestre de Faria, Purificación García‐Miguel, Pablo Lapunzina, Fernando Vargas, Héctor N. Seuánez, Víctor Martínez‐Glez
Software Mentions: 1
Published: about 9 years ago

10.1371/journal.pone.0129270

Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L
Cited by: 20
Author(s): Rebecca A. Nebel, Jill Kirschen, Jinlu Cai, Young Woon Woo, K. Anita Cherian, Brett S. Abrahams
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0138528

Biodiversity, Anti-Trypanosomal Activity Screening, and Metabolomic Profiling of Actinomycetes Isolated from Mediterranean Sponges
Cited by: 46
Author(s): Cheng Cheng, Lynsey MacIntyre, Usama Ramadan Abdelmohsen, Hannes Horn, Paraskevi N. Polymenakou, RuAngelie Edrada-Ebel, Ute Hentschel
Software Mentions: 1
Published: about 9 years ago

10.1371/journal.pone.0072515

A Potential Relationship among Beta-Defensins Haplotype, SOX7 Duplication and Cardiac Defects
Cited by: 11
Author(s): Fei Long, Xike Wang, Shaohai Fang, Yixin Xu, Sun Kim, Chen Sun, Rang Xu
Software Mentions: 1
Published: about 11 years ago

10.1371/journal.pone.0143428

Microbial Response to Experimentally Controlled Redox Transitions at the Sediment Water Interface
Cited by: 19
Author(s): Katharina Frindte, Martin Allgaier, Hans‐Peter Grossart, Werner Eckert
Software Mentions: 1
Published: almost 9 years ago

10.1371/journal.pone.0175508

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record
Cited by: 242
Author(s): Wei‐Qi Wei, Lisa Bastarache, Robert J. Carroll, Joy E. Marlo, Travis Osterman, Eric R. Gamazon, Nancy J. Cox, Dan M. Roden, Joshua C. Denny
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0162200

Quantitative PCR Assays for Detecting Loach Minnow (Rhinichthys cobitis) and Spikedace (Meda fulgida) in the Southwestern United States
Cited by: 4
Author(s): Joseph C. Dysthe, Kellie J. Carim, Yvette M. Paroz, Kevin S. McKelvey, Michael K. Young, Michael K. Schwartz
Software Mentions: 1
Published: about 8 years ago

10.1371/journal.pone.0142008

The Dual Challenges of Generality and Specificity When Developing Environmental DNA Markers for Species and Subspecies of Oncorhynchus
Cited by: 67
Author(s): Taylor M. Wilcox, Kellie J. Carim, Kevin S. McKelvey, Michael K. Young, Michael K. Schwartz
Software Mentions: 1
Published: about 9 years ago

10.1371/journal.pone.0171319

Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications
Cited by: 33
Author(s): Maria Neofytou, Kyriakos Tsangaras, Elena Kypri, Charalambos Loizides, Marios Ioannides, Achilleas Achilleos, Petros Mina, Anna Keravnou, Carolina Sismani, George Koumbaris, Philippos C. Patsalis
Software Mentions: 1
Published: almost 8 years ago

10.1371/journal.pone.0169334

A Noninvasive Tool to Assess the Distribution of Pacific Lamprey (Entosphenus tridentatus) in the Columbia River Basin
Cited by: 11
Author(s): Kellie J. Carim, Joseph C. Dysthe, Michael K. Young, Kevin S. McKelvey, Michael K. Schwartz
Software Mentions: 1
Published: almost 8 years ago

10.1371/journal.pone.0153864

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech
Cited by: 34
Author(s): Beate Peter, Ellen M. Wijsman, Alejandro Q. Nato, Mark Matsushita, Kathy Chapman, Ian B. Stanaway, John Wolff, Kaori Oda, Virginia Gabo, Wendy H. Raskind
Software Mentions: 1
Published: over 8 years ago

10.1371/journal.pone.0090852

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders
Cited by: 38
Author(s): Kagistia Hana Utami, Axel M. Hillmer, Irène Aksoy, Elaine Guo Yan Chew, Audrey S.M. Teo, Zhenshui Zhang, Charlie W. H. Lee, Pauline J. Chen, Chan Chee Seng, Pramila Ariyaratne, Sigrid Rouam, Lim Seong Soo, Saira Yousoof, Ivan Prokudin, Gregory B. Peters, Felicity Collins, Meredith Wilson, Alyson Kakakios, Georges Haddad, Arnaud Menuet, Olivier Perche, Stacey Kiat Hong Tay, Wing-Kin Sung, Xiaoan Ruan, Yijun Ruan, Edison T. Liu, Sylvain Briault, Robyn V Jamieson, Sonia Dávila, Valère Cacheux
Software Mentions: 1
Published: over 10 years ago

10.3390/cancers13071637

DPP9: Comprehensive In Silico Analyses of Loss of Function Gene Variants and Associated Gene Expression Signatures in Human Hepatocellular Carcinoma
Cited by: 7
Author(s): Jiana Huang, Abdullah Al Emran, Justine Moreno Endaya, Geoffrey W. McCaughan, Mark D. Gorrell, Hui Emma Zhang
Software Mentions: 1
Published: over 3 years ago

10.1155/2012/846564

A Rare Chromosome 3 Imbalance and Its Clinical Implications
Cited by: 1
Author(s): Karen Sims, Roberto Mazzaschi, Emilie Payne, Ian Hayes, Donald R. Love, Alice M. George
Software Mentions: 1
Published: almost 13 years ago

10.3390/cells10040824

Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview
Cited by: 12
Author(s): Ehud Banne, Baraa Abudiab, Sara Abu-Swai, Srinivasarao Repudi, Daniel J. Steinberg, Diala Shatleh, Sarah Alshammery, Leszek Lisowski, Wendy Gold, Peter L. Carlen, Rami I. Aqeilan
Software Mentions: 1
Published: over 3 years ago

10.1002/ccr3.2186

Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
Cited by: 4
Author(s): Cinthya J. Zepeda-Mendoza, McKinsey L. Goodenberger, Ashley Kuhl, Gregory M. Rice, Nicole L. Hoppman
Software Mentions: 1
Published: over 5 years ago

10.1002/ccr3.2870

Case report: Novel phenotype in central 22q11.2 deletion syndrome
Cited by: 0
Author(s): Patrick Dideum, Luis Rohena, Janet Berg, Candace Percival
Software Mentions: 1
Published: about 4 years ago

10.1002/ccr3.2507

Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
Cited by: 0
Author(s): Steven Leary, Harry S. Porterfield, Jaclyn R. Kotlarek, Benjamin W. Darbro, Alpa Sidhu
Software Mentions: 1
Published: about 5 years ago

10.1101/mcs.a000372

Capturing phenotypes for precision medicine
Cited by: 28
Author(s): Peter N. Robinson, Christopher J. Mungall, Melissa Haendel
Software Mentions: 1
Published: about 9 years ago

10.1101/mcs.a003392

Diagnosing rare diseases after the exome
Cited by: 39
Author(s): Laure Frésard, Stephen B. Montgomery
Software Mentions: 1
Published: almost 6 years ago

10.7759/cureus.3873

A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features
Cited by: 8
Author(s): Ramiah R Vickers, Jane Gibson
Software Mentions: 1
Published: almost 6 years ago

10.1007/s00284-019-01630-x

Microbial Diversity and Organic Acid Production of Guinea Pig Faecal Samples
Cited by: 1
Author(s): Susakul Palakawong Na Ayudthaya, Hans van der Oost, John van der Oost, Daan M. van Vliet, Caroline M. Plugge
Software Mentions: 1
Published: almost 6 years ago

10.1093/database/bay119

Ensembl variation resources
Cited by: 338
Author(s): Sarah Hunt, William McLaren, Laurent Gil, Anja Thormann, Helen Schuilenburg, Daniel Sheppard, Andrew Parton, Irina M. Armean, Stephen J. Trevanion, Paul Flicek, Fiona Cunningham
Software Mentions: 1
Published: almost 7 years ago

10.15252/emmm.201809889

Requirement for YAP1 signaling in myxoid liposarcoma
Cited by: 18
Author(s): Marcel Trautmann, Ya-Yun Cheng, Patrizia Jensen, Ninel Azoitei, Ines Brunner, Jennifer Hüllein, Mikołaj Słabicki, Ilka Isfort, Magdalene Cyra, Ruth Berthold, Eva Wardelmann, Sebastian Huss, Bianca Altvater, Claudia Rössig, Susanne Hafner, Thomas Simmet, Anders Ståhlberg, Pierre Åman, Thorsten Zenz, U Lange, Thomas Kindler, Claudia Scholl, Wolfgang Hartmann, Stefan Fröhling
Software Mentions: 1
Published: over 5 years ago

10.15252/embr.201948204

<scp>ECE</scp>2 regulates neurogenesis and neuronal migration during human cortical development
Cited by: 37
Author(s): Isabel Y. Buchsbaum, Pavel Kielkowski, Grazia Giorgio, Adam C O'Neill, Rossella Di Giaimo, Christina Kyrousi, Shahryar Khattak, Stephan A. Sieber, Stephen Robertson
Software Mentions: 1
Published: over 4 years ago

10.1002/ece3.3898

Repurposing environmental <scp>DNA</scp> samples—detecting the western pearlshell ( Margaritifera falcata ) as a proof of concept
Cited by: 27
Author(s): Joseph C. Dysthe, Torrey W. Rodgers, Thomas W. Franklin, Kellie J. Carim, Michael K. Young, Kevin S. McKelvey, Karen E. Mock, Michael K. Schwartz
Software Mentions: 1
Published: almost 7 years ago

10.1080/22221751.2021.1872351

Characterization of SARS-CoV-2 ORF6 deletion variants detected in a nosocomial cluster during routine genomic surveillance, Lyon, France
Cited by: 24
Author(s): Grégory Quéromès, Grégory Destras, Antonin Bal, Hadrien Regue, Gwendolyne Burfin, Solenne Brun, Rémi Fanget, Florence Morfin, Martine Valette, Sophie Trouillet‐Assant, Bruno Lina, Émilie Frobert, Laurence Josset
Software Mentions: 1
Published: almost 4 years ago

10.1007/s10311-020-01151-1

Tracing the origins of SARS-COV-2 in coronavirus phylogenies: a review
Cited by: 51
Author(s): Erwan Sallard, José Halloy, Didier Casañe, Étienne Decroly, Jacques van Helden
Software Mentions: 1
Published: almost 4 years ago

10.1111/1758-2229.12642

Group‐specific environmental sequencing reveals high levels of ecological heterogeneity across the microsporidian radiation
Cited by: 27
Author(s): Bryony A. P. Williams, Kristina M. Hamilton, Meredith D. M. Jones, David Bass
Software Mentions: 1
Published: over 6 years ago

10.1002/epi4.12396

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12
Cited by: 6
Author(s): Marjolein H. Willemsen, Himanshu Goel, Judith Verhoeven, Hilde M. H. Braakman, Nicole de Leeuw, Alison Freeth, Berge A. Minassian
Software Mentions: 1
Published: over 4 years ago

10.1038/s41431-019-0507-1

Rethinking the ethical principles of genomic medicine services
Cited by: 23
Author(s): Stephanie Johnson, Ingrid Slade, Alberto Giubilini, Mackenzie Graham
Software Mentions: 1
Published: about 5 years ago

10.1038/s41431-017-0008-z

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
Cited by: 57
Author(s): Hanns Lochmüller, Josep Torrent i Farnell, Yann Le Cam, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Gareth Baynam, Petra Kaufmann, Hugh Dawkins, Paul Lasko, Christopher P. Austin, Kym M. Boycott
Software Mentions: 1
Published: about 7 years ago

10.1038/ejhg.2016.137

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
Cited by: 29
Author(s): Hanns Lochmüller, Yann Le Cam, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Gareth Baynam, Petra Kaufmann, Paul Lasko, Hugh Dawkins, Christopher P. Austin, Kym M. Boycott
Software Mentions: 1
Published: about 8 years ago

10.1038/ejhg.2017.97

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction
Cited by: 11
Author(s): Renée Carroll, Raman Kumar, Marie Shaw, Jennie Slee, Vera M. Kalscheuer, Mark Corbett, Jozef Gécz
Software Mentions: 1
Published: over 7 years ago

10.1038/s41431-018-0139-x

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
Cited by: 8
Author(s): Aníbal Bueno, Rocío Rodríguez López, Armando Reyes-Palomares, Elena Rojano, Manuel Corpas, Julián Nevado, Pablo Lapunzina, Francisca Sánchez‐Jiménez, Juan A. G. Ranea
Software Mentions: 1
Published: over 6 years ago

10.3892/etm.2015.2200

Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families
Cited by: 0
Author(s): Liwu Huang, Yuan Xie, Yi Zhou, Yang Luo, Xuan Huang, Zhe Xu, Danlei Cai, Qun Fang
Software Mentions: 1
Published: almost 10 years ago

10.3389/fcell.2019.00328

Forged by DXZ4, FIRRE, and ICCE: How Tandem Repeats Shape the Active and Inactive X Chromosome
Cited by: 10
Author(s): Prakhar Bansal, Yuvabharath Kondaveeti, Stefan F. Pinter
Software Mentions: 1
Published: almost 5 years ago

10.3389/fgene.2021.634217

Germline Structural Variations in Cancer Predisposition Genes
Cited by: 6
Author(s): Tímea Pócza, Vince Grolmusz, J. Papp, Henriett Butz, Attila Patócs, Anikó Bozsik
Software Mentions: 1
Published: over 3 years ago

10.3389/fgene.2021.742325

Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis
Cited by: 8
Author(s): Matthew Hoi Kin Chau, Jicheng Qian, Zihan Chen, Ying Lü, Yu Zheng, Wing Ting Tse, Yvonne K. Kwok, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy
Software Mentions: 1
Published: about 3 years ago

10.3389/fgene.2017.00206

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion
Cited by: 6
Author(s): Marianna De Cinque, Orazio Palumbo, Ermelinda Mazzucco, Antonella Simone, Pietro Palumbo, Renata Ciavatta, Giuliana Maria, Rosangela Ferese, Stefano Gambardella, Antonella Angiolillo, Massimo Carella, Silvio Garofalo
Software Mentions: 1
Published: almost 7 years ago

10.3389/fgene.2021.705973

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
Cited by: 2
Author(s): Jie‐Yuan Jin, Lei Zeng, Binbin Guo, Yi Dong, Juyu Tang, Rong Xiang
Software Mentions: 1
Published: over 3 years ago

10.3389/fgene.2019.00058

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review
Cited by: 6
Author(s): Fátima Lopes, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Botelho, Susana Gama de Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan‐Separovic, Patrı́cia Maciel
Software Mentions: 1
Published: over 5 years ago

10.3389/fgene.2019.00069

Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters
Cited by: 5
Author(s): Yiliang Zhu, Qunda Shan, Jiayong Zheng, Qun-Xi Cai, Huanli Yang, Jianhong Zhang, Xiangze Du, Fan Jin
Software Mentions: 1
Published: over 5 years ago

10.3389/fgene.2021.690216

A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum
Cited by: 9
Author(s): Yuan Liu, Hu Ding, Tizhen Yan, Ling Liu, Lihua Yu, Yanlin Huang, Fake Li, Yangsu Zeng, Weiwei Huang, Yan Zhang, Aihua Yin
Software Mentions: 1
Published: over 3 years ago

10.3389/fgene.2021.635480

Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region
Cited by: 0
Author(s): Gloria Kafui Esi Zodanu, Mónika Oszlánczi, Kálmán Havasi, Anita Kalapos, Gergely Rácz, Márta Katona, Anikó Újfalusi, Orsolya Nagy, Márta Széll, Dóra Nagy
Software Mentions: 1
Published: over 3 years ago

10.3389/fimmu.2019.01871

Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity
Cited by: 3
Author(s): N. Sloboda, Arthur Sorlin, Mylène Valduga, Mylène Béri-Dexheimer, Claire Bilbault, Fanny Fouyssac, Aurélie Becker, Laëtitia Lambert, Céline Bonnet, Bruno Leheup
Software Mentions: 1
Published: over 5 years ago

10.3389/fimmu.2018.01711

Clustered Regularly Interspaced Short Palindromic Repeats/Cas9 Gene Editing Technique in Xenotransplantation
Cited by: 25
Author(s): Meisam Naeimi Kararoudi, Seyyed S. Hejazi, Ezgi Elmas, Mats Hellström, Maryam Naeimi Kararoudi, Arvind Manikantan Padma, Dean Lee, Hamid Dolatshad
Software Mentions: 1
Published: about 6 years ago

10.3389/fmicb.2017.02136

Nitrifier Gene Abundance and Diversity in Sediments Impacted by Acid Mine Drainage
Cited by: 18
Author(s): Bhargavi Ramanathan, Andrew M. Boddicker, Timberley M. Roane, Annika C. Mosier
Software Mentions: 1
Published: about 7 years ago

10.3389/fmicb.2016.01716

Changes of the Bacterial Abundance and Communities in Shallow Ice Cores from Dunde and Muztagata Glaciers, Western China
Cited by: 17
Author(s): Yong Chen, Xiang-Kai Li, Jing Si, Guangjian Wu, Lide Tian, Song Xiang
Software Mentions: 1
Published: about 8 years ago

10.3389/fmicb.2021.660697

Antimicrobial Resistance in Escherichia coli and Enterococcal Isolates From Irrigation Return Flows in a High-Desert Watershed
Cited by: 3
Author(s): Robert S. Dungan, David L. Bjorneberg
Software Mentions: 1
Published: over 3 years ago

10.3389/fmicb.2017.00132

Genomic Characterization of Dairy Associated Leuconostoc Species and Diversity of Leuconostocs in Undefined Mixed Mesophilic Starter Cultures
Cited by: 41
Author(s): Cyril Frantzen, Witold Kot, Thomas B. Pedersen, Ylva Ardö, Jeff R. Broadbent, Horst Neve, Lars Hestbjerg Hansen, Fabio Dal Bello, Hilde Marit Østlie, Hans Petter Kleppen, Finn K. Vogensen, Helge Holo
Software Mentions: 1
Published: almost 8 years ago

10.3389/fmicb.2015.00200

Microbial methane formation in deep aquifers of a coal-bearing sedimentary basin, Germany
Cited by: 26
Author(s): Friederike Gründger, Núria Jiménez, Thomas Thielemann, Nontje Straaten, Tillmann Lüders, Hans H. Richnow, Martin Krüger
Software Mentions: 1
Published: over 9 years ago

10.3389/fmicb.2019.00036

Design and Assessment of Species-Level qPCR Primers Targeting Comammox
Cited by: 43
Author(s): Natalie K. Beach, Daniel R. Noguera
Software Mentions: 1
Published: almost 6 years ago

10.3389/fmicb.2019.00462

Molecular Techniques Complement Culture-Based Assessment of Bacteria Composition in Mixed Biofilms of Urinary Tract Catheter-Related Samples
Cited by: 15
Author(s): Iva Kotásková, Hana Obručová, Barbora Mališová, Petra Vídeňská, Barbora Zwinsová, Tereza Peroutková, Milada Dvořáčková, Petr Kumstat, Pavel Trojan, Filip Růžička, Veronika Holá, Tomáš Freiberger
Software Mentions: 1
Published: over 5 years ago

10.3389/fmicb.2020.00505

New Insights Into Culturable and Unculturable Bacteria Across the Life History of Medicinal Maggots Lucilia sericata (Meigen) (Diptera: Calliphoridae)
Cited by: 16
Author(s): Naseh Maleki‐Ravasan, Nahid Ahmadi, Zahra Soroushzadeh, Abbasali Raz, Sedigheh Zakeri, Navid Dinparast Djadid
Software Mentions: 1
Published: over 4 years ago

10.3389/fmicb.2017.01233

Cyanobacterial Diversity in Microbial Mats from the Hypersaline Lagoon System of Araruama, Brazil: An In-depth Polyphasic Study
Cited by: 30
Author(s): Vítor Ramos, Raquel Castelo-Branco, Pedro N. Leão, Joana Martins, Sinda Beatriz Vianna Carvalhal Gomes, Frederico Sobrinho da Silva, João Graciano Mendonça Filho, Vı́tor Vasconcelos
Software Mentions: 1
Published: over 7 years ago

10.3389/fnmol.2018.00208

Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy
Cited by: 34
Author(s): Kay Marie Joan Lamar, Gemma L. Carvill
Software Mentions: 1
Published: over 6 years ago

10.3389/fped.2018.00163

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome
Cited by: 14
Author(s): Antonio Benítez‐Burraco, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Maite Fernández-Urquiza, Raúl Torres-Ruíz, Sandra Rodríguez‐Perales, Ma Salud Jiménez-Romero
Software Mentions: 1
Published: over 6 years ago

10.3389/fpsyt.2020.606372

CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations
Cited by: 4
Author(s): Hojka Gregorič Kumperščak, Danijela Krgović, Maja Drobnič Radobuljac, Nina Senica, Andreja Zagorac, Nadja Kokalj Vokač
Software Mentions: 1
Published: almost 4 years ago

10.3389/fpsyt.2013.00154

Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways
Cited by: 35
Author(s): Berit Kerner, Aliz R. Rao, Bryce Christensen, Sugandha Dandekar, Michael Yourshaw
Software Mentions: 1
Published: almost 12 years ago

10.3389/fpsyg.2019.00521

Williams Syndrome, Human Self-Domestication, and Language Evolution
Cited by: 24
Author(s): Amy Niego, Antonio Benítez‐Burraco
Software Mentions: 1
Published: over 5 years ago

10.3390/genes11050525

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
Cited by: 3
Author(s): Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano
Software Mentions: 1
Published: over 4 years ago

10.3390/genes11060707

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
Cited by: 9
Author(s): Orazio Palumbo, Pietro Palumbo, Ester Di Muro, Luigia Cinque, Antonio Petracca, Massimo Carella, Marco Castori
Software Mentions: 1
Published: over 4 years ago

10.3390/genes12050652

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Cited by: 8
Author(s): Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
Software Mentions: 1
Published: over 3 years ago

10.3390/genes12070962

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
Cited by: 0
Author(s): Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Software Mentions: 1
Published: over 3 years ago

10.3390/genes12071052

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita
Cited by: 3
Author(s): Xénia Latypova, Stefan Giovanni Creadore, Noémi Dahan‐Oliel, Anxhela Gjyshi Gustafson, Steven W. Hwang, Tanya Bedard, Kamran Shazand, Harold J. P. van Bosse, Philip F. Giampietro, Klaus Dieterich
Software Mentions: 1
Published: over 3 years ago

10.1038/s41436-018-0281-4

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
Cited by: 21
Author(s): Matthew Wakeling, Thomas W Laver, Caroline F. Wright, Elisa De Franco, Karen Stals, Ann‐Marie Patch, Andrew T. Hattersley, Sarah E. Flanagan, Sian Ellard
Software Mentions: 1
Published: over 5 years ago

Projects: bioconductor: DECIPHER

Papers Mentioning DECIPHER 415