Human Mutation

Cover image for Vol. 38 Issue 2

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. Predicting Severity of Disease-Causing Variants

    Abhishek Niroula and Mauno Vihinen

    Version of Record online: 24 JAN 2017 | DOI: 10.1002/humu.23173

  2. Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk

    Nardin Samuel, Badr Id Said, Tanya Guha, Ana Novokmet, Weili Li, Laxmi Silwal-Pandit, Anne-Lise Børrsen-Dale, Anita Langerød, Thomas J. Hudson and David Malkin

    Version of Record online: 23 JAN 2017 | DOI: 10.1002/humu.23154

  3. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

    Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E. Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, Lyndal Henden, Ulrich Müller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar Klimes, Guntram Borck, Melanie Bahlo, Stefan A. Haas, Joo-Ran Kim, Leda E. Lotspeich-Cole, Daniela Gasperikova, Thomas E. Dever and Vera M. Kalscheuer

    Version of Record online: 23 JAN 2017 | DOI: 10.1002/humu.23170

  4. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes and Structural Considerations

    Carmen Diez-Fernandez, Véronique Rüfenacht and Johannes Häberle

    Accepted manuscript online: 23 JAN 2017 04:25AM EST | DOI: 10.1002/humu.23184

  5. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

    Erica D. Smith, Kelly Radtke, Mari Rossi, Deepali N. Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K. Grange, Sha Tang and Kelly D. Farwell Hagman

    Accepted manuscript online: 20 JAN 2017 08:20AM EST | DOI: 10.1002/humu.23183

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New video highlight created by Lusine Nazaryan-Petersen on her recently published Human Mutation paper entitled, "Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination."

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