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Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis
Brooke Sadler, Gabe Haller, Lilian Antunes, Xavier Bledsoe, Jose Morcuende, Philip Giampietro, Cathleen Raggio, Nancy Miller, Yared Kidane, Carol A Wise, Ina Amarillo, Nephi Walton, Mark Seeley, Darren Johnson, Conner Jenkins, Troy Jenkins, Matthew Oetjens, R Spencer Tong, Todd E Druley, Matthew B Dobbs, Christina A Gurnett

Journal of Medical Genetics Jul 2019, 56 (7) 427-433; DOI: 10.1136/jmedgenet-2018-105877
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
Irene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran, Rachid Karam, Johan Vallon-Christersson, Ake Borg, kConFab Investigators, Alberto Valenzuela-Palomo, Eladio A Velasco, Melissa Southey, Maaike P G Vreeswijk, Peter Devilee, Anders Kvist, Amanda B Spurdle, Logan C Walker, Sophie Krieger, Miguel de la Hoya

Journal of Medical Genetics Jul 2019, 56 (7) 453-460; DOI: 10.1136/jmedgenet-2018-105834
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension
Pau Puigdevall, Lucilla Piccari, Isabel Blanco, Joan Albert Barberà, Dan Geiger, Celia Badenas, Montserrat Milà, Robert Castelo, Irene Madrigal

Journal of Medical Genetics Jul 2019, 56 (7) 481-490; DOI: 10.1136/jmedgenet-2018-105669
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development
Katie Ayers, Jocelyn van den Bergen, Gorjana Robevska, Nurin Listyasari, Jamal Raza, Irum Atta, Stefan Riedl, Karen Rothacker, Catherine Choong, Sultana M H Faradz, Andrew Sinclair

Journal of Medical Genetics Jul 2019, 56 (7) 434-443; DOI: 10.1136/jmedgenet-2018-105893
Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns
Eeva Sliz, Marita Kalaoja, Ari Ahola-Olli, Olli Raitakari, Markus Perola, Veikko Salomaa, Terho Lehtimäki, Toni Karhu, Heimo Viinamäki, Marko Salmi, Kristiina Santalahti, Sirpa Jalkanen, Jari Jokelainen, Sirkka Keinänen-Kiukaanniemi, Minna Männikkö, Karl-Heinz Herzig, Marjo-Riitta Järvelin, Sylvain Sebert, Johannes Kettunen

Journal of Medical Genetics Jun 2019, jmedgenet-2018-105965; DOI: 10.1136/jmedgenet-2018-105965
Genetic T-type calcium channelopathies
Norbert Weiss, Gerald W Zamponi

Journal of Medical Genetics Jun 2019, jmedgenet-2019-106163; DOI: 10.1136/jmedgenet-2019-106163
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2
Katie Ayers, Rakesh Kumar, Gorjana Robevska, Shoni Bruell, Katrina Bell, Muneer A Malik, Ross A Bathgate, Andrew Sinclair

Journal of Medical Genetics Jun 2019, jmedgenet-2019-106203; DOI: 10.1136/jmedgenet-2019-106203
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
Amanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, Melissa Brown, Leslie Burke, Miguel de la Hoya, Susan Domchek, Thilo Dörk, Helen V Firth, Alvaro N Monteiro, Arjen Mensenkamp, Michael T Parsons, Paolo Radice, Mark Robson, Marc Tischkowitz, Emma Tudini, Clare Turnbull, Maaike PG Vreeswijk, Logan C Walker, Sean Tavtigian, Diana M Eccles

Journal of Medical Genetics Jun 2019, 56 (6) 347-357; DOI: 10.1136/jmedgenet-2018-105872
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
Takanobu Inoue, Hideaki Yagasaki, Junko Nishioka, Akie Nakamura, Keiko Matsubara, Satoshi Narumi, Kazuhiko Nakabayashi, Kazuki Yamazawa, Tomoko Fuke, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami

Journal of Medical Genetics Jun 2019, 56 (6) 413-418; DOI: 10.1136/jmedgenet-2018-105463
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
David Bick, Marilyn Jones, Stacie L Taylor, Ryan J Taft, John Belmont

Journal of Medical Genetics Apr 2019, jmedgenet-2019-106111; DOI: 10.1136/jmedgenet-2019-106111

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