Human Mutation

Cover image for Vol. 38 Issue 4

Edited By: Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Just Published Articles

  1. Single-base substitutions in the CHM promoter as a cause of choroideremia

    Alina Radziwon, Gavin Arno, Dianna K. Wheaton, Ellen M. McDonagh, Emma L. Baple, Kaylie Webb-Jones, David G. Birch, Andrew R. Webster and Ian M. MacDonald

    Version of Record online: 24 MAR 2017 | DOI: 10.1002/humu.23212

  2. Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted

    Miguel Alsina Casanova, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, Franck Court, Isabel Gazquez Serrano, Loreto Martorell, Carlota Rovira Zurriaga, Gudrun E. Moore, Miho Ishida, Montserrat Castañon, Elisenda Moliner Calderon, David Monk and Julio Moreno Hernando

    Version of Record online: 24 MAR 2017 | DOI: 10.1002/humu.23213

  3. Rare deleterious variants in GRHL3 are associated with human spina bifida

    Philippe Lemay, Patrizia De Marco, Alexandre Emond, Dan Spiegelman, Alexandre Dionne-Laporte, Sandra Laurent, Elisa Merello, Andrea Accogli, Guy A Rouleau, Valeria Capra and Zoha Kibar

    Version of Record online: 24 MAR 2017 | DOI: 10.1002/humu.23214

  4. Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

    Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu and Yoshiko Murakami

    Accepted manuscript online: 23 MAR 2017 09:50PM EST | DOI: 10.1002/humu.23219

  5. Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

    Fabian Baertling, Fathiya Al-Murshedi, Laura Sánchez-Caballero, Khalfan Al-Senaidi, Niranjan P Joshi, Hanka Venselaar, Mariël AM van den Brand, Leo GJ Nijtmans and Richard JT Rodenburg

    Version of Record online: 23 MAR 2017 | DOI: 10.1002/humu.23210

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