Human Mutation

Cover image for Vol. 38 Issue 10

Edited By: Garry R. Cutting

Impact Factor: 4.601

ISI Journal Citation Reports © Ranking: 2016: 29/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Just Published Articles

  1. Functional and molecular studies in primary carnitine deficiency

    Marta Frigeni, Bijina Balakrishnan, Xue Yin, Fernanda R.O. Calderon, Rong Mao, Marzia Pasquali and Nicola Longo

    Version of Record online: 14 SEP 2017 | DOI: 10.1002/humu.23315

  2. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

    Saskia B. Wortmann, Sharita Timal, Hanka Venselaar, Liesbeth T. Wintjes, Robert Kopajtich, René G. Feichtinger, Carla Onnekink, Mareike Mühlmeister, Ulrich Brandt, Jan A. Smeitink, Joris A. Veltman, Wolfgang Sperl, Dirk Lefeber, Ger Pruijn, Vesna Stojanovic, Peter Freisinger, Francjan v Spronsen, Terry GJ Derks, Hermine E. Veenstra-Knol, Johannes A Mayr, Agnes Rötig, Mark Tarnopolsky, Holger Prokisch and Richard J. Rodenburg

    Accepted manuscript online: 14 SEP 2017 03:05AM EST | DOI: 10.1002/humu.23340

  3. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy

    Virginia Barone, Valeria Del Re, Alessandra Gamberucci, Valentina Polverino, Lucia Galli, Daniela Rossi, Elisa Costanzi, Luana Toniolo, Gianna Berti, Alessandro Malandrini, Giulia Ricci, Gabriele Siciliano, Gaetano Vattemi, Giuliano Tomelleri, Enrico Pierantozzi, Simone Spinozzi, Nila Volpi, Rosella Fulceri, Roberto Battistutta, Carlo Reggiani and Vincenzo Sorrentino

    Accepted manuscript online: 11 SEP 2017 09:51PM EST | DOI: 10.1002/humu.23338

  4. A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity

    Ryan H. Purcell, Camilo Toro, William A. Gahl and Randy A. Hall

    Accepted manuscript online: 10 SEP 2017 08:50PM EST | DOI: 10.1002/humu.23336

  5. Mutations in KARS cause early-onset hearing loss and leukoencepha lopathy: Potential pathogenic mechanism

    Xiao-Long Zhou, Long-Xia He, Li-Jia Yu, Yong Wang, Xi-Jin Wang, En-Duo Wang and Tao Yang

    Accepted manuscript online: 8 SEP 2017 10:50PM EST | DOI: 10.1002/humu.23335


Video highlight created by Research Square on the newly published paper in Human Mutation paper entitled, "Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications."

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