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genetics

  • 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 2021, 58 (7) 453-464; DOI: 10.1136/jmedgenet-2019-106805
  • CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
    Xuanye Cao, Annika Wolf, Sung-Eun Kim, Robert M. Cabrera, Bogdan J. Wlodarczyk, Huiping Zhu, Margaret Parker, Ying Lin, John W. Steele, Xiao Han, Vincent Th Ramaekers, Robert Steinfeld, Richard H. Finnell, Yunping Lei
    Journal of Medical Genetics Jul 2021, 58 (7) 484-494; DOI: 10.1136/jmedgenet-2020-106987
  • Canadian College of Medical Geneticists (CCMG) points to consider: resuming genetic services in a pandemic—a summary
    Lauren Chad, Angelika J Dawson, Elaine Suk-Ying Goh
    Journal of Medical Genetics Jan 2022, 59 (1) 101-104; DOI: 10.1136/jmedgenet-2020-107394
  • Dysfunction of VIPR2 leads to myopia in humans and mice
    Fuxin Zhao, Qihang Li, Wei Chen, He Zhu, Dengke Zhou, Peter Sol Reinach, Zhenglin Yang, Mingguang He, Anquan Xue, Deng Wu, Tianzi Liu, Qian Fu, Changqing Zeng, Jia Qu, Xiangtian Zhou
    Journal of Medical Genetics Jan 2022, 59 (1) 88-100; DOI: 10.1136/jmedgenet-2020-107220
  • 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 Aug 2021, 58 (8) 505-513; DOI: 10.1136/jmedgenet-2020-106896
  • Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission
    Deborah Tolomeo, Anna Rubegni, Claudia Nesti, Melissa Barghigiani, Roberta Battini, Francesca D'Amore, Stefano Doccini, Maria Alice Donati, Daniele Galatolo, Sabrina Giglio, Silvia Guarducci, Marilena Pantaleo, Rosa Pasquariello, Elena Procopio, Francesca Pochiero, Alessandra Tessa, Filippo M M Santorelli
    Journal of Medical Genetics Aug 2021, 58 (8) 543-546; DOI: 10.1136/jmedgenet-2020-107644
  • Assessing performance of pathogenicity predictors using clinically relevant variant datasets
    Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright
    Journal of Medical Genetics Aug 2021, 58 (8) 547-555; DOI: 10.1136/jmedgenet-2020-107003
  • 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 Aug 2021, 58 (8) 556-564; DOI: 10.1136/jmedgenet-2020-106922
  • Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
    Hui Dong, Khyati Chandratre, Yue Qin, Jing Zhang, Xiaoqing Tian, Ce Rong, Ning Wang, Maoni Guo, Guoping Zhao, San Ming Wang
    Journal of Medical Genetics Aug 2021, 58 (8) 565-569; DOI: 10.1136/jmedgenet-2020-106970
  • Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
    Guillaume Olivier, Marta Corton, Daniela Intartaglia, Sanne K Verbakel, Panagiotis I Sergouniotis, Guylène Le Meur, Claire-Marie Dhaenens, Hélène Naacke, Almudena Avila-Fernández, Carel B Hoyng, Jeroen Klevering, Béatrice Bocquet, Agathe Roubertie, Audrey Sénéchal, Sandro Banfi, Agnès Muller, Christian L Hamel, Graeme C Black, Ivan Conte, Susanne Roosing, Xavier Zanlonghi, Carmen Ayuso, Isabelle Meunier, Gaël Manes
    Journal of Medical Genetics Aug 2021, 58 (8) 570-578; DOI: 10.1136/jmedgenet-2020-107150

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