Online First

October 26, 2020

October 16, 2020

October 15, 2020

October 13, 2020

September 29, 2020

September 25, 2020

September 22, 2020

September 17, 2020

September 16, 2020

September 14, 2020

September 11, 2020

September 09, 2020

  • Cancer genetics
    Loss-of-function variants in POT1 predispose to uveal melanoma
    Vaishnavi Nathan, Jane M Palmer, Peter A Johansson, Hayley R Hamilton, Sunil K Warrier, William Glasson, Lindsay A McGrath, Vivian F S Kahl, Raja S Vasireddy, Hilda A Pickett, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward

September 08, 2020

August 25, 2020

August 20, 2020

August 17, 2020

August 03, 2020

July 31, 2020

July 30, 2020

  • Neurogenetics
    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
  • Developmental defects
    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
  • Methods
    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

July 27, 2020

July 24, 2020

  • Complex traits
    Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants
    Daniel N. Frank, Arnaud P. J. Giese, Lena Hafren, Tori C. Bootpetch, Talitha Karisse L. Yarza, Matthew J. Steritz, Melquiadesa Pedro, Patrick John Labra, Kathleen A. Daly, Ma. Leah C. Tantoco, Wasyl Szeremeta, Maria Rina T. Reyes-Quintos, Niaz Ahankoob, Erasmo Gonzalo d.V. Llanes, Harold S. Pine, Sairah Yousaf, Diana Ir, Elisabet Einarsdottir, Rhodieleen Anne R. de la Cruz, Nanette R. Lee, Rachelle Marie A. Nonato, Charles E. Robertson, Kimberly Mae C. Ong, Jose Pedrito M. Magno, Alessandra Nadine E. Chiong, Ma. Carmina Espiritu-Chiong, Maria Luz San Agustin, Teresa Luisa G. Cruz, Generoso T. Abes, Michael J. Bamshad, Eva Maria Cutiongco-de la Paz, Juha Kere, Deborah A. Nickerson, Karen L. Mohlke, Saima Riazuddin, Abner Chan, Petri S. Mattila, Suzanne M. Leal, Allen F. Ryan, Zubair M. Ahmed, Tasnee Chonmaitree, Michele M. Sale, Charlotte M. Chiong, Regie Lyn P. Santos-Cortez

July 06, 2020

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