Whole exome sequencing

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Lisa Mirabello, Payal P Khincha, Steven R Ellis, Neelam Giri, Seth Brodie, Settara C Chandrasekharappa, Frank X Donovan, Weiyin Zhou, Belynda D Hicks, Joseph F Boland, Meredith Yeager, Kristine Jones, Bin Zhu, Mingyi Wang, Blanche P Alter, Sharon A Savage

Journal of Medical Genetics Jun 2017, 54 (6) 417-425; DOI: 10.1136/jmedgenet-2016-104346
Identification of novel genetic causes of Rett syndrome-like phenotypes
Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado, Isabel Fineza Cruz, José Pedro Vieira, Renata Oliveira, Sofia Esteves, Sascha Sauer, Inger Jonasson, Ann-Christine Syvänen, Ulf Gyllensten, Dalila Pinto, Patrícia Maciel

Journal of Medical Genetics Mar 2016, 53 (3) 190-199; DOI: 10.1136/jmedgenet-2015-103568
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Giulia Parmeggiani, Matt Wherlock, Geoff Woodward, Mark Greenslade, Maggie Williams, Judith St-Onge, Alessandra Ferlini, Giampaolo Garani, Elisa Ballardini, Bregje W van Bon, Rocio Acuna-Hidalgo, Axel Bohring, Jean-François Deleuze, Anne Boland, Vincent Meyer, Robert Olaso, Emmanuelle Ginglinger, DDD Study, Jean-Baptiste Rivière, Han G Brunner, Alexander Hoischen, Ruth Newbury-Ecob, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon

Journal of Medical Genetics Dec 2017, 54 (12) 830-835; DOI: 10.1136/jmedgenet-2017-104748
Comprehensive somatic genome alterations of urachal carcinoma
Seungchul Lee, Jingu Lee, Sung Hoon Sim, Yeonghun Lee, Kyung Chul Moon, Cheol Lee, Woong-Yang Park, Nayoung KD Kim, Se-Hoon Lee, Hyunju Lee

Journal of Medical Genetics Aug 2017, 54 (8) 572-578; DOI: 10.1136/jmedgenet-2016-104390
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration
Eran Pras, Dana Kristal, Nadav Shoshany, Dina Volodarsky, Inna Vulih, Gershon Celniker, Ofer Isakov, Noam Shomron, Elon Pras

Journal of Medical Genetics Jul 2015, 52 (7) 484-492; DOI: 10.1136/jmedgenet-2015-103130
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
Esther R Berko, Megan T Cho, Christine Eng, Yunru Shao, David A Sweetser, Jessica Waxler, Nathaniel H Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G Bönnemann, Martin Bialer, Christine Moore, Lynne A Wolfe, Cynthia J Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K Chung

Journal of Medical Genetics Feb 2017, 54 (2) 84-86; DOI: 10.1136/jmedgenet-2016-103943
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
Mary R Richards, Lacey Plummer, Yee-Ming Chan, Margaret F Lippincott, Richard Quinton, Philip Kumanov, Stephanie B Seminara

Journal of Medical Genetics Jan 2017, 54 (1) 19-25; DOI: 10.1136/jmedgenet-2016-104064
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
Aritoshi Iida, Weirong Xing, Martine K F Docx, Tomoki Nakashima, Zheng Wang, Mamori Kimizuka, Wim Van Hul, Dietz Rating, Jürgen Spranger, Hirohumi Ohashi, Noriko Miyake, Naomichi Matsumoto, Subburaman Mohan, Gen Nishimura, Geert Mortier, Shiro Ikegawa

Journal of Medical Genetics Aug 2016, 53 (8) 568-574; DOI: 10.1136/jmedgenet-2016-103756
Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data
Samer Khateb, Mor Hanany, Ayat Khalaileh, Avigail Beryozkin, Segev Meyer, Alaa Abu-Diab, Fathieh Abu Turky, Liliana Mizrahi-Meissonnier, Sari Lieberman, Tamar Ben-Yosef, Eyal Banin, Dror Sharon

Journal of Medical Genetics Sep 2016, 53 (9) 600-607; DOI: 10.1136/jmedgenet-2016-103825
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M Zein, Joseph Snow, Meghana Vemulapalli, James C Mullikin, Camilo Toro, Benjamin D Solomon, John E Niederhuber, NISC Comparative Sequencing Program, William A Gahl, Meral Gunay-Aygun

Journal of Medical Genetics Dec 2015, 52 (12) 830-839; DOI: 10.1136/jmedgenet-2015-103316

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