cran: ExomeDepth | Projects | Ecosyste.ms: Papers

10.1111/tpj.14784

Segmental duplications are hot spots of copy number variants affecting barley gene content
Cited by: 4
Author(s): Gianluca Bretani, Laura Rossini, Chiara Ferrandi, Joanne Russell, Robbie Waugh, Benjamin Kilian, Paolo Bagnaresi, Luigi Cattivelli, Agostino Fricano
Software Mentions: 11
Published: over 4 years ago

10.1186/s13059-021-02316-z

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency
Cited by: 24
Author(s): Wendell Jones, Binsheng Gong, Natalia Novoradovskaya, Dan Li, Rebecca Kusko, Todd Richmond, Donald J. Johann, Halil Bişğin, Sayed Mohammad Ebrahim Sahraeian, Pierre R. Bushel, Mehdi Pirooznia, Katherine Wilkins, Marco Chierici, Wenjun Bao, Lee S Basehore, Anne Bergstrom Lucas, Daniel L. Burgess, Daniel Butler, Simon Cawley, Chia Jung Chang, Guangchun Chen, Tao Chen, Yun Ching Chen, Daniel J. Craig, Ángela del Pozo, Jonathan Foox, Margherita Francescatto, Yutao Fu, Cesare Furlanello, Kristina Giorda, Kira P. Grist, Meijian Guan, You-Zeng Hao, Scott Happe, Gunjan Hariani, Nathan Haseley, Jeff S. Jasper, Giuseppe Jurman, David P. Kreil, Paweł P. Łabaj, Kevin Lai, Jianying Li, Quan Zhen Li, Yulong Li, Chi Kong Li, Zhichao Liu, Mario Solís-López, Kelci Miclaus, Raymond D. Miller, Vinay Kumar Mittal, Marghoob Mohiyuddin, Carlos Pabón-Peña, Barbara L. Parsons, Fujun Qiu, Andreas Scherer, Tieliu Shi, Suzy M. Stiegelmeyer, Chen Suo, Nikola Tom, Dong Wang, Zhining Wen, Leihong Wu, Wenzhong Xiao, Chang Xu, Ying Yu, Jiyang Zhang, Yifan Zhang, Zhihong Zhang, Yuanting Zheng, Christopher E. Mason, James C. Willey, Leming Shi, Joshua Xu
Software Mentions: 10
Published: over 3 years ago

10.1371/journal.pcbi.1004873

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Cited by: 1,141
Author(s): Eric Talevich, A. Hunter Shain, Thomas Botton, Boris C. Bastian
Software Mentions: 9
Published: over 8 years ago

10.1038/s41431-020-0675-z

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
Cited by: 63
Author(s): José Marcos Moreno-Cabrera, Jesús Del Valle, Elisabeth Castellanos, Lídia Feliubadaló, Marta Pineda, Joan Brunet, Eduard Serra, Gabriel Capellá, Conxi Lázaro, Bernat Gel
Software Mentions: 7
Published: about 4 years ago

10.3389/fgene.2020.00082

SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes
Cited by: 6
Author(s): Yue Xing, Alan R. Dabney, Xiao Li, Guosong Wang, C. A. Gill, Claudio Casola
Software Mentions: 7
Published: over 4 years ago

10.1186/s13062-016-0110-0

Altools: a user friendly NGS data analyser
Cited by: 5
Author(s): Salvatore Camiolo, Gaurav Sablok, Andrea Porceddu
Software Mentions: 7
Published: over 8 years ago

10.7717/peerj.10897

Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application
Cited by: 4
Author(s): Jakub Hynšt, Veronika Navrkalová, Karol Pál, Šárka Pospı́šilová
Software Mentions: 5
Published: over 3 years ago

10.1186/1471-2105-14-S11-S1

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives
Cited by: 426
Author(s): Min Zhao, Qingguo Wang, Quan Wang, Peilin Jia, Zhongming Zhao
Software Mentions: 5
Published: about 11 years ago

10.1371/journal.pone.0126321

Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow
Cited by: 36
Author(s): Amit Kawalia, Susanne Motameny, Stephan Wonczak, Holger Thiele, Lech Nieroda, Kamel Jabbari, Stefan Borowski, Vishal Sinha, Wilfried Gunia, Ulrich Lang, Viktor Achter, Peter Nürnberg
Software Mentions: 5
Published: over 9 years ago

10.1038/s41598-021-94292-4

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers
Cited by: 7
Author(s): Yoon Young Choi, Su‐Jin Shin, Jae Eun Lee, Lisa Madlensky, Seung Tae Lee, Ji Soo Park, Jeong-Hyeon Jo, Hyun Ki Kim, Daniela Nachmanson, Xiaojun Xu, Sung Hoon Noh, Jae‐Ho Cheong, Olivier Harismendy
Software Mentions: 4
Published: about 3 years ago

10.15252/embj.201798133

Interplay of cell–cell contacts and RhoA/ <scp>MRTF</scp> ‐A signaling regulates cardiomyocyte identity
Cited by: 65
Author(s): Tatjana Dorn, Jessica Kornherr, Elvira Immacolata Parrotta, Dorota Zawada, Harold Ayetey, Gianluca Santamaria, Laura Iop, Elisa Mastantuono, Daniel Sinnecker, Alexander Goedel, Ralf J. Dirschinger, Ilaria My, Svenja Laue, Tarik Bozoglu, Christian Baarlink, Tilman Ziegler, Elisabeth Graf, Rabea Hinkel, Giovanni Cuda, Stefan Kääb, Andrew A. Grace, Robert Grosse, Christian Kupatt, Thomas Meitinger, Austin Smith, Karl‐Ludwig Laugwitz, Alessandra Moretti
Software Mentions: 4
Published: over 6 years ago

10.1186/s12859-019-2889-z

Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance
Cited by: 12
Author(s): Wiktor Kuśmirek, Agnieszka Szmurło, Marek Wiewiórka, Robert Nowak, Tomasz Gambin
Software Mentions: 4
Published: over 5 years ago

10.1186/s13073-020-00791-w

Best practices for variant calling in clinical sequencing
Cited by: 136
Author(s): Daniel C. Koboldt
Software Mentions: 4
Published: almost 4 years ago

10.1016/j.ajhg.2015.11.018

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
Cited by: 65
Author(s): Alice E. Davidson, Petra Lišková, Cerys J. Evans, Ľubica Ďuďáková, Lenka Nosková, Nikolas Pontikos, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Zbyněk Kozmík, Hannah J. Levis, Nwamaka Juliana Idigo, Noriaki Sasai, Geoffrey J. Maher, James Bellingham, Neyme Veli, Neil D. Ebenezer, Michael E. Cheetham, Julie T. Daniels, Caroline Thaung, Kateřina Jirsová, Vincent Plagnol, Martin Filipec, Stanislav Kmoch, Stephen Tuft, Alison J. Hardcastle
Software Mentions: 4
Published: over 8 years ago

10.1186/s12920-018-0320-7

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
Cited by: 41
Author(s): John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Kim Ji-Hun, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung Tae Lee, Hoon Chul Kang
Software Mentions: 4
Published: over 6 years ago

10.1186/s13073-019-0651-9

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series
Cited by: 20
Author(s): Jenny C Taylor, Judith Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C Taylor, Kate Thomson, Hugh Watkins, Wilkie Aom., Julian C. Knight
Software Mentions: 4
Published: about 5 years ago

10.1038/s41598-021-93878-2

Benchmarking germline CNV calling tools from exome sequencing data
Cited by: 27
Author(s): Veronika Gordeeva, Е. И. Шарова, Konstantin Babalyan, Rinat Sultanov, Vadim M. Govorun, Georgij Arapidi
Software Mentions: 4
Published: about 3 years ago

10.3390/genes12081282

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family
Cited by: 5
Author(s): Shafaq Ramzan, Stephanie Tennstedt, Muhammad Tariq, Sheraz Khan, Hafiza Noor Ul Ayan, Aamir Ali, Matthias Munz, Holger Thiele, Asad Aslam Korejo, Abdul Razzaq Mughal, Syed Zahid Jamal, Peter Nürnberg, Shahid Mahmood Baig, Jeanette Erdmann, Ilyas Ahmad
Software Mentions: 4
Published: about 3 years ago

10.1371/journal.pgen.1009803

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder
Cited by: 4
Author(s): Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan M. Scott, Jim Deline, Tom Herr, R. J. Evans, Angela Scheid, Joanna Kennedy, Barry A. Chioza, Ryan M. Ames, Harold E. Cross, Erik G. Puffenberger, Lorna W. Harries, Emma L. Baple, Andrew H. Crosby
Software Mentions: 3
Published: almost 3 years ago

10.1186/s13059-018-1578-y

CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing
Cited by: 55
Author(s): Y. Jiang, Rujin Wang, Eugene Urrutia, Ioannis N. Anastopoulos, Katherine L. Nathanson, Nancy R. Zhang
Software Mentions: 3
Published: almost 6 years ago

10.1186/s12859-020-3397-x

CNV Radar: an improved method for somatic copy number alteration characterization in oncology
Cited by: 8
Author(s): David Soong, Jeran K. Stratford, Hervé Avet‐Loiseau, Nizar J. Bahlis, Faith E. Davies, Angela Dispenzieri, A. Kate Sasser, Jordan M. Schecter, Ming Qi, Chad Brown, Wendell Jones, Jonathan J. Keats, Daniel Auclair, Christopher Chiu, Jason Powers, Michael Schäffer
Software Mentions: 3
Published: over 4 years ago

10.1093/gigascience/giaa118

CopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data
Cited by: 5
Author(s): Sarah Sandmann, Marius Wöste, Aniek O. de Graaf, Birgit Burkhardt, Joop H. Jansen, Martin Dugas
Software Mentions: 3
Published: almost 4 years ago

10.1093/gigascience/giy112

Ximmer: a system for improving accuracy and consistency of CNV calling from exome data
Cited by: 25
Author(s): Simon Sadedin, Justine A. Ellis, Seth L. Masters, Alicia Oshlack
Software Mentions: 3
Published: about 6 years ago

10.3389/fpsyt.2020.00354

A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability
Cited by: 2
Author(s): Babylakshmi Muthusamy, Anikha Bellad, Pramada Prasad, Aravind K. Bandari, G. Bhuvanalakshmi, R. M. Kiragasur, Satish Chandra Girimaji, Akhilesh Pandey
Software Mentions: 3
Published: over 4 years ago

10.1002/mgg3.1381

Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five
Cited by: 2
Author(s): Thorkild Terkelsen, Ole Halfdan Larsen, Søren Vang, Uffe Birk Jensen, Friedrik P. Wikman
Software Mentions: 3
Published: about 4 years ago

10.12688/wellcomeopenres.10069.1

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN
Cited by: 71
Author(s): Anna Fowler, Shazia Mahamdallie, Elise Ruark, Sheila Seal, Emma Ramsay, Matthew Clarke, Imran Uddin, Harriet Wylie, Ann Strydom, Gerton Lunter, Nazneen Rahman
Software Mentions: 3
Published: almost 8 years ago

10.1186/s12969-019-0313-x

10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)
Cited by: 21
Author(s):
Software Mentions: 3
Published: over 5 years ago

10.1186/s13073-020-0712-0

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
Cited by: 37
Author(s): Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin
Software Mentions: 3
Published: over 4 years ago

10.1371/journal.pgen.1008625

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
Cited by: 15
Author(s): Pierre Costé de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J. Obermair, Maja Hempel, Bernhard E. Flucher, Kerstin Kutsche
Software Mentions: 3
Published: over 4 years ago

10.1002/humu.24140

New variants and in silico analyses in GRK1 associated Oguchi disease
Cited by: 7
Author(s): James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, Elfride De Baere, Bart P. Leroy, Nigel Davies, Robert Henderson, Andrew R. Webster, Carlo Rivolta, Omar Abdul Rahman Mahroo, Gavin Arno, Graeme C M Black, Martin McKibbin, Sarah A. Harris, Kamron Khan, Chris F. Inglehearn
Software Mentions: 3
Published: almost 4 years ago

10.1186/s13023-020-1311-2

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
Cited by: 20
Author(s): Xiaoyu Yu, Yun Lin, Jingying Xu, Tuanjie Che, Lin Li, Tao Yang, Hao Wu
Software Mentions: 2
Published: over 4 years ago

10.1186/s12859-021-04246-w

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing
Cited by: 1
Author(s): Dayne L. Filer, Fengshen Kuo, Alicia Brandt, Christian R. Tilley, Piotr A. Mieczkowski, Jonathan S. Berg, Kimberly Robasky, Yun Li, Chris Bizon, Jeffery L. Tilson, Bradford C. Powell, Darius M. Bost, Clark Jeffries, Kirk C. Wilhelmsen
Software Mentions: 2
Published: about 3 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: over 8 years ago

10.1186/s12920-018-0404-4

Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model
Cited by: 2
Author(s): Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin, Nigel F. Delaney
Software Mentions: 2
Published: almost 6 years ago

10.1093/bioinformatics/bts526

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
Cited by: 504
Author(s): Vincent Plagnol, James Curtis, Michael P. Epstein, Kin Y. Mok, Emma Stebbings, Sofia Grigoriadou, Nicholas W. Wood, Sophie Hambleton, Siobhan O. Burns, Adrian J. Thrasher, Dinakantha Kumararatne, Rainer Döffinger, Sergey Nejentsev
Software Mentions: 2
Published: about 12 years ago

10.1155/2018/1250721

Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review
Cited by: 37
Author(s): Jiwon M. Lee, Ji Eun Shin, Sol Kim, Heon Yung Gee, Joon Suk Lee, Do Hyeon Cha, John Hoon Rim, Se Jin Park, Ji Eun Kim, Ahmet Uçar, Andreas Kronbichler, Keum Hwa Lee, Jae Il Shin
Software Mentions: 2
Published: almost 6 years ago

10.1155/2013/915636

Comparative Study of Exome Copy Number Variation Estimation Tools Using Array Comparative Genomic Hybridization as Control
Cited by: 35
Author(s): Yan Guo, Quanhu Sheng, David C. Samuels, Brian D. Lehmann, Joshua A. Bauer, Jennifer A. Pietenpol, Yu Shyr
Software Mentions: 2
Published: over 11 years ago

10.1371/journal.pone.0087645

Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene
Cited by: 30
Author(s): Yukinori Okada, Dorothée Diogo, Jeffrey D. Greenberg, Faten Mouassess, Walid Al Achkar, Robert S. Fulton, Joshua C. Denny, Namrata Gupta, Daniel B. Mirel, Stacy Gabriel, Gang Li, Joel M. Kremer, Dimitrios A. Pappas, Robert J. Carroll, Anne E. Eyler, Gosia Trynka, Eli A. Stahl, Jing Cui, Richa Saxena, Marieke J. H. Coenen, Henk‐Jan Guchelaar, Tom W J Huizinga, Philippe Dieudé, Xavier Mariette, Anne Barton, Helena Canhão, João Eurico Fonseca, Niek de Vries, Paul P. Tak, Larry W. Moreland, S. Louis Bridges, Corinne Miceli‐Richard, Hyon K. Choi, Yoichiro Kamatani, Pilar Galán, Mark Lathrop, Towfique Raj, Philip L. De Jager, Soumya Raychaudhuri, Jane Worthington, Leonid Padyukov, Lars Klareskog, Katherine A. Siminovitch, Peter K. Gregersen, Elaine R. Mardis, Thurayya Arayssi, L. Kazkaz, Robert M. Plenge
Software Mentions: 2
Published: over 10 years ago

10.1371/journal.pone.0212228

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms
Cited by: 10
Author(s): Borahm Kim, Hyeonah Lee, Ji Eun Jang, Soo Jeong Kim, Seung Tae Lee, June Won Cheong, Chuhl Joo Lyu, Yoo Hong Min, Jong Rak Choi
Software Mentions: 2
Published: over 5 years ago

10.1371/journal.pone.0253562

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population
Cited by: 3
Author(s): Evie Kritioti, Athina Theodosiou, Thibaud Parpaite, Angelos Alexandrou, Nayia Nicolaou, Ioannis Papaevripidou, Nina Séjourné, Bertrand Coste, Violetta Christophidou‐Anastasiadou, George A. Tanteles, Carolina Sismani
Software Mentions: 2
Published: about 3 years ago

10.3390/cancers13010118

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer
Cited by: 4
Author(s): Louisa Lepkes, Mohamad Kayali, Britta Blümcke, Jonas Weber, Malwina Suszyńska, Sandra Schmidt, Julika Borde, Katarzyna Klonowska, Barbara Wappenschmidt, Jan Hauke, Piotr Kozlowski, Rita K. Schmutzler, Corinna Ernst
Software Mentions: 2
Published: over 3 years ago

10.3390/cancers13040929

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome
Cited by: 12
Author(s): Yasmin Soares de Lima, Coral Arnau‐Collell, Marcos Díaz‐Gay, Laia Bonjoch, Sebastià Franch‐Expósito, Jenifer Muñoz, Leticia Moreira, Teresa Ocaña, Míriam Cuatrecasas, Cristina Herrera‐Pariente, Sabela Carballal, Lorena Moreno, Aránzazu Díaz de Bustamante, Antoni Castells, Luís Bujanda, Joaquín Cubiella, Daniel Rodríguez‐Alcalde, Francesc Balaguer, Sergi Castellví–Bel
Software Mentions: 2
Published: over 3 years ago

10.1101/mcs.a003293

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder
Cited by: 14
Author(s): Michael Zech, Daniel D. Lam, Sandrina Weber, Riccardo Berutti, Kamila Poláková, Petra Havránková, Anna Fečíková, Tim M. Strom, Evžen Ru̇žička, Robert Jech, Juliane Winkelmann
Software Mentions: 2
Published: almost 6 years ago

10.3389/fcell.2021.612581

Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis
Cited by: 5
Author(s): Eva Y.G. De Vilder, Ludovic Martin, Georges Lefthériotis, Paul Coucke, Filip Van Nieuwerburgh, Olivier Vanakker
Software Mentions: 2
Published: over 3 years ago

10.3389/fcell.2021.664317

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
Cited by: 10
Author(s): Giulia Ascari, Nanna Dahl Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie A. Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Stražišar, Mette Bertelsen, Lisbeth Tranebjærg, Elfride De Baere
Software Mentions: 2
Published: over 3 years ago

10.3389/fgene.2019.00819

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios
Cited by: 14
Author(s): Yichuan Liu, Xiao Chang, Joseph Glessner, Hui‐Qi Qu, Lifeng Tian, Dong Liu, Kenny Nguyen, Patrick Sleiman, Hákon Hákonarson
Software Mentions: 2
Published: about 5 years ago

10.3390/genes11121517

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
Cited by: 8
Author(s): Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, Helene Gellert‐Kristensen, Mingyan Fang, Hanne Jensen, Thomas Rosenberg, Zeynep Tümer, Lisbeth Birk Møller, Karen Brøndum‐Nielsen, Karen Grønskov
Software Mentions: 2
Published: over 3 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: about 3 years ago

10.1172/jci.insight.149831

KRAS-driven model of Gorham-Stout disease effectively treated with trametinib
Cited by: 26
Author(s): Nassim Homayun-Sepehr, Anna McCarter, Raphaël Helaers, Christine Galant, Laurence M. Boon, Pascal Brouillard, Miikka Vikkula, Michael T. Dellinger
Software Mentions: 2
Published: about 3 years ago

10.1002/pd.5175

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
Cited by: 59
Author(s): Karen Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, E. R. A. Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard
Software Mentions: 2
Published: almost 7 years ago

10.1093/hmg/ddx422

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
Cited by: 26
Author(s): Verity Hartill, Glenn van de Hoek, Mitali Patel, Rosie B Little, Christopher M. Watson, Ian Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymańska, Nine V A M Knoers, Peter Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J D Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic P. Norris, Hannah M. Mitchison, Rachel Giles, Colin A. Johnson
Software Mentions: 2
Published: almost 7 years ago

10.1093/hmg/ddaa041

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta
Cited by: 17
Author(s): Claire E. L. Smith, Laura Le. Whitehouse, James A. Poulter, Laura Wilkinson Hewitt, Fatima Nadat, Brian R. Jackson, Iain W. Manfield, Thomas A. Edwards, Helen Rodd, Chris F. Inglehearn, Alan J. Mighell
Software Mentions: 2
Published: over 4 years ago

10.1002/jmd2.12209

A novel homozygous variant in <scp> C1QBP </scp> causes severe <scp>IUGR</scp> , edema, and cardiomyopathy in two fetuses
Cited by: 3
Author(s): Morten Alstrup, Ida Vogel, Puk Sandager, Jenny Blechingberg, Naja Becher, Elsebet Østergaard
Software Mentions: 2
Published: over 3 years ago

10.3390/jpm6010013

Infrastructure for Personalized Medicine at Partners HealthCare
Cited by: 15
Author(s): Scott T. Weiss, Meini Sumbada Shin
Software Mentions: 2
Published: over 8 years ago

10.1186/s13023-015-0254-5

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Cited by: 22
Author(s): Johannes Koch, Peter Freisinger, René G. Feichtinger, Franz Zimmermann, Christian Rauscher, Hans P Wagentristl, Vassiliki Konstantopoulou, Rainer Seidl, Tobias B. Haack, Holger Prokisch, Uwe Ahting, Wolfgang Sperl, Johannes A. Mayr, Esther M. Maier
Software Mentions: 1
Published: over 9 years ago

10.3389/fgene.2015.00123

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
Cited by: 80
Author(s): Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander, Steven A. Hardy, Saikat Santra, Christine Makowski, Charlotte L. Alston, Franz Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joel Smét, Robert W. Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B. Haack
Software Mentions: 1
Published: over 9 years ago

10.3389/fgene.2018.00080

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
Cited by: 48
Author(s): Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka
Software Mentions: 1
Published: over 6 years ago

10.1371/journal.pcbi.1007503

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
Cited by: 19
Author(s): Paco Derouault, Jasmine Chauzeix, David M. Rizzo, Federica Miressi, Corinne Magdelaine, Sylvie Bourthoumieu, Karine Durand, Hélène Dzugan, Jean Feuillard, Franck Sturtz, Stéphane Mérillou, Anne‐Sophie Lia
Software Mentions: 1
Published: over 4 years ago

10.3389/fgene.2021.608889

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics
Cited by: 12
Author(s): Samuel P. Strom, Waheeda A. Hossain, Melina Grigorian, Mickey Li, Joseph Fierro, William A. Scaringe, Hai-Yun Yen, Mirandy Teguh, Joanna Liu, Harry Gao, Merlin G. Butler
Software Mentions: 1
Published: over 3 years ago

10.3389/fgene.2021.642849

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing
Cited by: 1
Author(s): Michaela Stippel, Korbinian Riedhammer, Bärbel Lange-Sperandio, Michaela Geßner, Matthias C. Braunisch, Roman Günthner, Martin Bald, Miriam Schmidts, Peter Strotmann, Velibor Tasić, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Julia Hoefele
Software Mentions: 1
Published: over 3 years ago

10.1194/jlr.D079301

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia
Cited by: 63
Author(s): Michael A. Iacocca, Jian Wang, Jacqueline S. Dron, John F. Robinson, Adam D. McIntyre, Henian Cao, Robert A. Hegele
Software Mentions: 1
Published: almost 7 years ago

10.3389/fnmol.2021.699574

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy
Cited by: 10
Author(s): Tiejia Jiang, Jinliang Gao, Lihua Jiang, Lu Xu, Chenchen Zhao, Xiaojun Su, Yulong Shen, Weiyue Gu, Xiaohong Kong, Ying Yang, Feng Gao
Software Mentions: 1
Published: about 3 years ago

10.3389/fonc.2021.726637

Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage
Cited by: 2
Author(s): Gabriele Merati, Marianna Rossi, Anna Gallì, Elisa Roncoroni, Silvia Zibellini, Ettore Rizzo, Daniela Pietra, Cristina Picone, Barbara Rocca, Claudia Cabrera, Eleonora Gelli, Eugenio Santacroce, Luca Arcaini, Patrizia Zappasodi
Software Mentions: 1
Published: about 3 years ago

10.3389/fped.2021.660076

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy
Cited by: 10
Author(s): Katarína Kušíková, René G. Feichtinger, Bernhard Csillag, Ognian Kalev, Serge Weis, Hans-Christoph Duba, Johannes A. Mayr, Denisa Weis
Software Mentions: 1
Published: over 3 years ago

10.1080/09537104.2017.1283011

Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function
Cited by: 9
Author(s): Annabel Maclachlan, G. Dolan, Charlotte Grimley, Steve P. Watson, Neil V. Morgan
Software Mentions: 1
Published: over 7 years ago

10.1136/jmedgenet-2016-103837

Molecular findings from 537 individuals with inherited retinal disease
Cited by: 121
Author(s): Jamie M Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, James O’Sullivan, Simon G. Williams, Janine A. Lamb, Binay Panda, Panagiotis I. Sergouniotis, Rachel Gillespie, Stephen P. Daiger, Georgina Hall, Theodora Gale, I C Lloyd, Paul N. Bishop, Simon Ramsden, Graeme C M Black
Software Mentions: 1
Published: over 8 years ago

10.3390/genes12060789

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients
Cited by: 10
Author(s): Hyeong Min Kim, Kwangsic Joo, Jinu Han, Se Joon Woo
Software Mentions: 1
Published: over 3 years ago

10.1136/jmedgenet-2014-102405

Whole exome sequencing of familial hypercholesterolaemia patients negative forLDLR/APOB/PCSK9mutations
Cited by: 100
Author(s): Marta Futema, Vincent Plagnol, KaWah Li, Ros Whittall, H. A. W. Neil, Mary Seed, Stefano Bertolini, Sebastiano Calandra, Olivier Descamps, Colin A. Graham, Robert A. Hegele, Fredrik Karpe, Ronen Durst, Eran Leitersdorf, Nicholas Lench, Devaki Nair, Handrean Soran, Frank M. van Bockxmeer, Steve E. Humphries
Software Mentions: 1
Published: about 10 years ago

10.3390/genes12070980

Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy
Cited by: 4
Author(s): Li Huang, Jiahuan Lu, Linyan Zhang, Zhaotian Zhang, Limei Sun, Songshan Li, Ting Zhang, Limei Chen, Liming Cao, Xiaoyan Ding
Software Mentions: 1
Published: about 3 years ago

10.3390/genes12081213

Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis
Cited by: 2
Author(s): Wenjing Lai, Feng Xin, Yue Ming, Pty Cheung, Vanessa N. T. Choi, You‐Qiang Song, K.D.K. Luk, Bo Gao
Software Mentions: 1
Published: about 3 years ago

10.1111/cns.13723

Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
Cited by: 0
Author(s): Yaoming Xue, Xuerong Huang, Hai‐Lin Dong, Zhi‐Ying Wu, Hongfu Li
Software Mentions: 1
Published: about 3 years ago

10.3390/genes12091427

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations
Cited by: 14
Author(s): Béryl Royer‐Bertrand, Katarina Cisarova, Florence Niel-Bütschi, Lauréane Mittaz-Crettol, Heidi Fodstad, Andrea Superti‐Furga
Software Mentions: 1
Published: about 3 years ago

10.1093/bioinformatics/btw340

Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq
Cited by: 17
Author(s): F. Anthony San Lucas, Smruthy Sivakumar, Selina Vattathil, Jerry Fowler, Eduardo Vilar, Paul Scheet
Software Mentions: 1
Published: over 8 years ago

10.1186/s12883-019-1322-6

Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing
Cited by: 9
Author(s): Sushan Luo, Minjie Xu, Jian Sun, Kai Qiao, Jie Song, Shuang Cai, Wenhua Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, Xiaohua Ni, Tonghai Dou, Chongbo Zhao
Software Mentions: 1
Published: over 5 years ago

10.1186/s12920-020-0728-8

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
Cited by: 5
Author(s): Qing-Ming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Qing Liu, Haiming Yuan
Software Mentions: 1
Published: over 4 years ago

10.1186/1471-2164-15-661

Identification of copy number variants from exome sequence data
Cited by: 55
Author(s): Pubudu Samarakoon, Hanne Sørmo Sorte, Bjørn E. Kristiansen, Tove Skodje, Ying Sheng, Geir E. Tjønnfjord, Barbro Stadheim, Asbjørg Stray-Pedersen, Olaug K. Rødningen, Robert Lyle
Software Mentions: 1
Published: about 10 years ago

10.1186/s12885-017-3940-y

Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer
Cited by: 19
Author(s): Ji Soo Park, Seung Tae Lee, Eun Ji Nam, Jung Woo Han, Jung‐Yun Lee, Jieun Kim, Tae Il Kim, Hyung Seok Park
Software Mentions: 1
Published: over 6 years ago

10.1186/s13073-021-00873-3

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
Cited by: 12
Author(s): Zheng Yie Yap, Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
Software Mentions: 1
Published: over 3 years ago

10.1016/j.atherosclerosis.2015.01.028

Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?
Cited by: 12
Author(s): Marta Futema, Meena Kumari, C. R. Boustred, Mika Kivimäki, Steve E. Humphries
Software Mentions: 1
Published: over 9 years ago

10.1002/acn3.51260

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy
Cited by: 4
Author(s): Melanie Brugger, Fiona Becker-Dettling, Theresa Brunet, Tim M. Strom, Thomas Meitinger, Eberhard Lurz, Ingo Borggraefe, Matias Wagner
Software Mentions: 1
Published: almost 4 years ago

10.1038/hgv.2017.4

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
Cited by: 2
Author(s): Sek‐Shir Cheong, Sarah Hull, Benjamin T. Jones, Ravinder K. Chana, Nicole Thornton, Vincent Plagnol, Anthony T. Moore, Alison J. Hardcastle
Software Mentions: 1
Published: over 7 years ago

10.1001/jamanetworkopen.2019.2129

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy
Cited by: 42
Author(s): Jorune Balciuniene, Elizabeth T. DeChene, Gozde Akgumus, Edward J. Romasko, Ke Cao, Holly Dubbs, Surabhi Mulchandani, Nancy B. Spinner, Laura K. Conlin, Eric D. Marsh, Ethan M. Goldberg, Ingo Helbig, Mahdi Sarmady, Ahmad Abou Tayoun
Software Mentions: 1
Published: over 5 years ago

10.1002/jbm4.10451

Loss of <scp>TANGO1</scp> Leads to Absence of Bone Mineralization
Cited by: 13
Author(s): Brecht Guillemyn, Sheela Nampoothiri, Delfien Syx, Fransiska Malfait, Sofie Symoens
Software Mentions: 1
Published: over 3 years ago

10.1136/jmedgenet-2017-104791

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Cited by: 53
Author(s): Jamie M Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev S. Bhaskar, Panagiotis I. Sergouniotis, Rachel L. Taylor, Keren Carss, Lucy Raymond, Michel Michaelides, Simon Ramsden, Andrew R. Webster, Graeme C M Black
Software Mentions: 1
Published: almost 7 years ago

10.1007/s10875-016-0343-9

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
Cited by: 18
Author(s): Karin R. Engelhardt, Yaobo Xu, Angela Grainger, Mila G. C. Germani Batacchi, David J. Swan, Joseph D. P. Willet, Intan Juliana Abd Hamid, Philipp Agyeman, D Barge, Shahnaz Bibi, Lucy Jenkins, Terence Flood, Mario Abinun, Mary Slatter, Andrew R. Gennery, Andrew J. Cant, Mauro Santibáñez Koref, Kimberly Gilmour, Sophie Hambleton
Software Mentions: 1
Published: almost 8 years ago

10.3390/jcm10071497

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant
Cited by: 3
Author(s): David Araújo‐Vilar, Antía Fernández-Pombo, Berta Victoria, Adrián Mosquera-Orgueira, Silvia Cobelo-Gómez, Ana Castro-Pais, Álvaro Hermida‐Ameijeiras, Lourdes Loidi, Sofía Sánchez-Iglesias
Software Mentions: 1
Published: over 3 years ago

10.3390/ijms21051809

Oligogenic Origin of Differences of Sex Development in Humans
Cited by: 27
Author(s): Núria Camats, Christa E. Flück, Laura Audí
Software Mentions: 1
Published: over 4 years ago

10.1093/schbul/sbaa161

A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia
Cited by: 3
Author(s): Tariq Mahmood, Mohammed E. El‐Asrag, James A. Poulter, Alastair G. Cardno, Anneka Tomlinson, Shahzad Ahmed, Ahmed Al-Amri, Jamshid Nazari, Joanna C. Neill, Rifka Chamali, Nancy Kiwan, Suhaila Ghuloum, Hamid Alhaj, Juliette Randerson Moor, Shabana Khan, Hassen Al-Amin, Colin A. Johnson, Peter Woodruff, Iain D. Wilkinson, Manir Ali, Steven J. Clapcote, Chris F. Inglehearn
Software Mentions: 1
Published: almost 4 years ago

10.1038/srep45973

Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
Cited by: 27
Author(s): Jinsei Jung, Joon Suk Lee, Kyeong Jee Cho, Seyoung Yu, Joo Heon Yoon, Heon Yung Gee, Jae Young Choi
Software Mentions: 1
Published: over 7 years ago

10.1038/s41598-018-38007-2

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Cited by: 64
Author(s): Cathrine Jespersgaard, Mingyan Fang, Mette Bertelsen, Xiao Dang, Hanne Jensen, Yulan Chen, Niels Bech, Lanlan Dai, Thomas Rosenberg, Shiping Zhang, Lisbeth Birk Møller, Zeynep Tümer, Karen Brøndum‐Nielsen, Karen Grønskov
Software Mentions: 1
Published: over 5 years ago

10.1038/s41598-019-49032-0

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
Cited by: 11
Author(s): Pauline E. Schneeberger, Tatjana Bierhals, Axel Neu, Maja Hempel, Kerstin Kutsche
Software Mentions: 1
Published: about 5 years ago

10.1038/s41598-019-51768-8

Clinical and genetic variability in children with partial albinism
Cited by: 24
Author(s): Patrick Campbell, Jamie M Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon Ramsden, Theodora Gale, Georgina Hall, Katherine R. Smith, Dalia Kasperavičiūtė, E. R. A. Thomas, Iva Lloyd, Sofia Douzgou, Jill Clayton‐Smith, Susmito Biswas, Jane Ashworth, Graeme C M Black, Panagiotis I. Sergouniotis
Software Mentions: 1
Published: almost 5 years ago

10.1038/s41598-020-68779-5

Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan
Cited by: 8
Author(s): Memoona Ramzan, Rasheeda Bashir, Midhat Salman, Ghulam Mujtaba, Nara Sobreira, P. Dane Witmer, Sadaf Naz
Software Mentions: 1
Published: about 4 years ago

10.1038/s41598-020-73557-4

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy
Cited by: 8
Author(s): Marie Anne-Catherine Neumann, Dajana Großmann, Simone Schimpf-Linzenbold, Danit Dayan, Katarína Štingl, Reut Ben-Menachem, Ophry Pines, François Massart, Sylvie Delcambre, Jenny Ghelfi, Jill Bohler, Tim M. Strom, Amit Kessel, Abdussalam Azem, Lüdger Schöls, Anne Grünewald, Bernd Wissinger, Rejko Krüger
Software Mentions: 1
Published: almost 4 years ago

10.1038/s41598-020-75841-9

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
Cited by: 8
Author(s): Arash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, Mathieu Quinodoz, Nasser Shoeibi, Majid Mojarrad, Alireza Pasdar, Carlo Rivolta
Software Mentions: 1
Published: almost 4 years ago

10.1038/s41598-021-88449-4

Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
Cited by: 4
Author(s): Sohee Shin, Hyeonah Lee, Seung Tae Lee, Jong Rak Choi, Chul Won Jung, Hong Hoe Koo, Sun‐Hee Kim
Software Mentions: 1
Published: over 3 years ago

10.1002/acn3.50992

Biallelic loss‐of‐function variants inRBL2in siblings with a neurodevelopmental disorder
Cited by: 10
Author(s): Theresa Brunet, Milena Radivojkov‐Blagojevic, Peter Lichtner, Verena Kraus, Thomas Meitinger, Matias Wagner
Software Mentions: 1
Published: over 4 years ago

10.1371/journal.pone.0145951

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
Cited by: 85
Author(s): Nicole Weisschuh, Achim Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andréasson, Antje Bernd, David G. Birch, Christian Hamel, John R. Heckenlively, Samuel G. Jacobson, Carl Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger
Software Mentions: 1
Published: over 8 years ago

10.1016/j.ajhg.2018.02.002

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
Cited by: 43
Author(s): Petra Lišková, Ľubica Ďuďáková, Cerys J. Evans, Karla E. Rojas López, Nikolas Pontikos, Dimitra Athanasiou, Hodan Jama, J Šach, Pavlína Skalická, Viktor Stránecký, Stanislav Kmoch, Caroline Thaung, Martin Filipec, Michael E. Cheetham, Alice E. Davidson, Stephen Tuft, Alison J. Hardcastle
Software Mentions: 1
Published: over 6 years ago

10.1371/journal.pone.0209185

Increasing the diagnostic yield of exome sequencing by copy number variant analysis
Cited by: 53
Author(s): Daniel S. Marchuk, Kristy Crooks, Natasha T. Strande, Kathleen Kaiser‐Rogers, Laura V. Milko, Alicia Brandt, Alexandra Arreola, Christian R. Tilley, Chris Bizon, Neeta L. Vora, Kirk C. Wilhelmsen, James P. Evans, Jonathan S. Berg
Software Mentions: 1
Published: almost 6 years ago

Projects: cran: ExomeDepth

Papers Mentioning ExomeDepth 112