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genetics

  • Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
    Adam Waring, Andrew Harper, Silvia Salatino, Christopher Kramer, Stefan Neubauer, Kate Thomson, Hugh Watkins, Martin Farrall
    Journal of Medical Genetics Jul 2020, jmedgenet-2020-106922; DOI: 10.1136/jmedgenet-2020-106922
  • Prenatal clinical manifestations in individuals with COL4A1/2 variants
    Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, Fumihito Nozaki, Masayasu Ohta, Hitoshi Osaka, Masafumi Morimoto, Tomoko Tandou, Fumikatsu Nohara, Yuichi Takami, Fumitaka Yoshioka, Shoko Shimokawa, Jiu Okuno-Yuguchi, Mitsuo Motobayashi, Yuko Takei, Tetsuhiro Fukuyama, Satoko Kumada, Yohane Miyata, Chikako Ogawa, Yuki Maki, Noriko Togashi, Teruyuki Ishikura, Makoto Kinoshita, Yusuke Mitani, Yonehiro Kanemura, Tsuyoshi Omi, Naoki Ando, Ayako Hattori, Shinji Saitoh, Yukihiro Kitai, Satori Hirai, Hiroshi Arai, Fumihiko Ishida, Hidetoshi Taniguchi, Yasuji Kitabatake, Keiichi Ozono, Shin Nabatame, Robert Smigiel, Mitsuhiro Kato, Koichi Tanda, Yoshihiko Saito, Akihiko Ishiyama, Yushi Noguchi, Mazumi Miura, Takaaki Nakano, Keiko Hirano, Ryoko Honda, Ichiro Kuki, Jun-ichi Takanashi, Akihito Takeuchi, Tatsuya Fukasawa, Chizuru Seiwa, Atsuko Harada, Yusuke Yachi, Hiroyuki Higashiyama, Hiroshi Terashima, Tadayuki Kumagai, Satoshi Hada, Yoshiichi Abe, Etsuko Miyagi, Yuri Uchiyama, Atsushi Fujita, Eri Imagawa, Yoshiteru Azuma, Kohei Hamanaka, Eriko Koshimizu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
    Journal of Medical Genetics Jul 2020, jmedgenet-2020-106896; DOI: 10.1136/jmedgenet-2020-106896
  • Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
    Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd, Sophie Collardeau-Frachon, Tania Attie-Bitach, Paul Kuentz, Mirna assoum, Elise Schaefer, Salima El Chehadeh, Maria Cristina Antal, Valérie Kremer, Françoise Girard-Lemaitre, Jean-Louis Mandel, Daphne Lehalle, Sophie Nambot, Nolwenn Jean-Marçais, Nada Houcinat, Sébastien Moutton, Nathalie Marle, Laetita Lambert, Philippe Jonveaux, Bernard Foliguet, Jean-Pierre Mazutti, Dominique Gaillard, Elisabeth Alanio, Celine Poirisier, Anne-Sophie Lebre, Marion Aubert-Lenoir, Francine Arbez-Gindre, Sylvie Odent, Chloé Quélin, Philippe Loget, Melanie Fradin, Marjolaine Willems, Nicole Bigi, Marie-José Perez, Sophie Blesson, Christine Francannet, Anne-Marie Beaufrere, Sophie Patrier-Sallebert, Anne-Marie Guerrot, Alice Goldenberg, Anne-Claire Brehin, James Lespinasse, Renaud Touraine, Yline Capri, Marie-Hélène Saint-Frison, Nicole Laurent, Christophe Philippe, Frederic Tran Mau-them, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, Antonio Vitobello
    Journal of Medical Genetics Jul 2020, jmedgenet-2020-106867; DOI: 10.1136/jmedgenet-2020-106867
  • Investigating the genetic susceptibility to exertional heat illness
    Lois Gardner, Dorota M Miller, Catherine Daly, Pawan K Gupta, Carol House, Daniel Roiz de Sa, Marie-Anne Shaw, Philip M Hopkins
    Journal of Medical Genetics Aug 2020, 57 (8) 531-541; DOI: 10.1136/jmedgenet-2019-106461
  • Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
    Dominique P Germain, João Paulo Oliveira, Daniel G Bichet, Han-Wook Yoo, Robert J Hopkin, Roberta Lemay, Juan Politei, Christoph Wanner, William R Wilcox, David G Warnock
    Journal of Medical Genetics Aug 2020, 57 (8) 542-551; DOI: 10.1136/jmedgenet-2019-106467
  • Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion
    Xunde Wang, Julia Z Xu, Anna Conrey, Laurel Mendelsohn, Daniel Shriner, Mehdi Pirooznia, Swee Lay Thein
    Journal of Medical Genetics Aug 2020, 57 (8) 567-570; DOI: 10.1136/jmedgenet-2019-106698
  • A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
    Suzanne E de Bruijn, Jeroen J Smits, Chang Liu, Cornelis P Lanting, Andy J Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W R J Cremers, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Henricus P M Kunst, Bo Zhao, Ronald J E Pennings, Hannie Kremer
    Journal of Medical Genetics May 2020, jmedgenet-2020-106863; DOI: 10.1136/jmedgenet-2020-106863
  • DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
    Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti, Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha
    Journal of Medical Genetics Jul 2020, jmedgenet-2019-106805; DOI: 10.1136/jmedgenet-2019-106805
  • Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
    Noor Ul Ain, Marta Baroncelli, Alice Costantini, Tayyaba Ishaq, Fulya Taylan, Ola Nilsson, Outi Mäkitie, Sadaf Naz
    Journal of Medical Genetics Jun 2020, jmedgenet-2020-106929; DOI: 10.1136/jmedgenet-2020-106929
  • SETD1B-associated neurodevelopmental disorder
    Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study
    Journal of Medical Genetics Jun 2020, jmedgenet-2019-106756; DOI: 10.1136/jmedgenet-2019-106756

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