Human Mutation

Cover image for Vol. 37 Issue 8

Accepted Articles (Accepted, unedited articles published online and citable. The final edited and typeset version of record will appear in future.)

Edited By: Richard G.H. Cotton (1940-2015) and Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/165 (Genetics & Heredity)

Online ISSN: 1098-1004

VIEW

  1. 1 - 19
  1. Brief Report

    1. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family

      Dino Maglic, Joshi Stephen, May Christine V. Malicdan, Jennifer Guo, Roxanne Fischer, Daniel Konzman, NISC Comparative Sequencing Program, James C. Mullikin, William A. Gahl, Thierry Vilboux and Meral Gunay-Aygun

      Accepted manuscript online: 23 JUL 2016 04:00AM EST | DOI: 10.1002/humu.23054

  2. RESEARCH ARTICLES

    1. Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

      Elena Sanchez, Hossein Darvish, Roxana Mesias, Shaghyegh Taghavi, Saghar Ghasemi Firouzabadi, Ruth H. Walker, Abbas Tafakhori and Coro Paisán-Ruiz

      Accepted manuscript online: 23 JUL 2016 04:00AM EST | DOI: 10.1002/humu.23055

  3. Reviews

    1. New Directions in Gaucher Disease

      Mia Horowitz, Deborah Elstein, Ari Zimran and Ozlem Goker-Alpan

      Accepted manuscript online: 23 JUL 2016 04:00AM EST | DOI: 10.1002/humu.23056

  4. RESEARCH ARTICLES

    1. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome

      Heleen M. van der Klift, Arjen R. Mensenkamp, Mark Drost, Elsa C. Bik, Yvonne J. Vos, Hans J.J.P. Gille, Bert E.J.W. Redeker, Yvonne Tiersma, José B.M. Zonneveld, Encarna Gómez García, Tom G.W. Letteboer, Maran J.W. Olderode-Berends, Liselotte P. van Hest, Theo A. van Os, Senno Verhoef, Anja Wagner, Christi J. van Asperen, Sanne W. ten Broeke, Frederik J. Hes, Niels de Wind, Maartje Nielsen, Peter Devilee, Marjolijn J.L. Ligtenberg, Juul T. Wijnen and Carli M.J. Tops

      Accepted manuscript online: 20 JUL 2016 03:50AM EST | DOI: 10.1002/humu.23052

  5. Brief Report

    1. Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis

      Arnaud Boulling, Amandine Abrantes, Emmanuelle Masson, David N. Cooper, Michel Robaszkiewicz, Jian-Min Chen and Claude Férec

      Accepted manuscript online: 18 JUL 2016 11:41PM EST | DOI: 10.1002/humu.23053

  6. REVIEWS

    1. 4th Generation of NGS Technologies: Promise and Consequences

      Rongqin Ke, Marco Mignardi, Thomas Hauling and Mats Nilsson

      Accepted manuscript online: 13 JUL 2016 04:45AM EST | DOI: 10.1002/humu.23051

  7. Informatics

    1. Regulatory Single Nucleotide Variant Predictor (RSVP) Increases Predictive Performance of Functional Regulatory Variants

      Thomas A. Peterson, Matthew Mort, David N. Cooper, Predrag Radivojac, Maricel G. Kann and Sean D. Mooney

      Accepted manuscript online: 13 JUL 2016 04:40AM EST | DOI: 10.1002/humu.23049

  8. RESEARCH ARTICLES

    1. Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment

      Carl Spickett, Pirro Hysi, Chistopher J Hammond, Alan Prescott, Gregory S Fincham, Arabella V Poulson, Annie M McNinch, Allan J Richards and Martin P Snead

      Accepted manuscript online: 13 JUL 2016 12:01AM EST | DOI: 10.1002/humu.23050

    2. microRNA Genetic Variation, from Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer

      Ignasi Torruella-Loran, Hafid Laayouni, Begoña Dobon, Alicia Gallego, Ingrid Balcells, Eva Garcia-Ramallo and Yolanda Espinosa-Parrilla

      Accepted manuscript online: 10 JUL 2016 09:46PM EST | DOI: 10.1002/humu.23045

  9. Informaticss

    1. The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions

      Casandra Riera, Natàlia Padilla and Xavier de la Cruz

      Accepted manuscript online: 10 JUL 2016 09:46PM EST | DOI: 10.1002/humu.23048

  10. RESEARCH ARTICLES

    1. Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated With Liver Cirrhosis and Hepatocellular Carcinoma

      Patrick R. Blackburn, Raymond D. Hickey, Rebecca A. Nace, Nasra H. Giama, Daniel L. Kraft, Andrew J. Bordner, Roongruedee Chaiteerakij, Jennifer B. McCormick, Maja Radulovic, Rondell P. Graham, Michael S. Torbenson, Silvia Tortorelli, C. Ronald Scott, Noralane M. Lindor, Dawn S. Milliner, Devin Oglesbee, Wafa'a Al-Qabandi, Markus Grompe, Dimitar K. Gavrilov, Mounif El-Youssef, Karl J. Clark, Paldeep S. Atwal, Lewis R. Roberts, Eric W. Klee and Stephen C. Ekker

      Accepted manuscript online: 10 JUL 2016 09:45PM EST | DOI: 10.1002/humu.23047

    2. Mutations Causing Slow-Channel Myasthenia Reveal that a Valine ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

      Xin-Ming Shen, Tatsuya Okuno, Margherita Milone, Kenji Otsuka, Koji Takahashi, Hirofumi Komaki, Elizabeth Giles, Kinji Ohno and Andrew G. Engel

      Accepted manuscript online: 4 JUL 2016 03:50AM EST | DOI: 10.1002/humu.23043

  11. MUTATION UPDATE

    1. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

      Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin and Thomas B. Friedman

      Accepted manuscript online: 4 JUL 2016 03:50AM EST | DOI: 10.1002/humu.23042

  12. Meeting Reports

    1. Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing and Interpretation

      María Torres-Español, Seyed Yahya Anvar and María-Jesús Sobrido

      Accepted manuscript online: 1 JUL 2016 04:40AM EST | DOI: 10.1002/humu.23022

  13. RESEARCH ARTICLES

    1. Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway

      Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes, Laurence Faivre-Olivier, Emmanuelle Ginglinger, Marie Gonzales, Annie Levy-Mozziconacci, Sally-Ann Lynch, Sophie Naudion, Laurent Pasquier, Amélie Poidvin, Fabienne Prieur, Pierre Sarda, Annick Toutain, Valérie Dupé, Linda Akloul, Sylvie Odent, Marie de Tayrac and Véronique David

      Accepted manuscript online: 1 JUL 2016 04:40AM EST | DOI: 10.1002/humu.23038

    2. Deep Genetic Connection between Cancer and Developmental Disorders

      Hongjian Qi, Chengliang Dong, Wendy K. Chung, Kai Wang and Yufeng Shen

      Accepted manuscript online: 1 JUL 2016 04:40AM EST | DOI: 10.1002/humu.23040

    3. Coagulation Factor Xiiia Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor Xiii Action

      Anne Thomas, Arijit Biswas, Johannes Dodt, Helen Philippou, Emma Hethershaw, Hans Juergen Ensikat, Vytautas Ivaskevicius and Johannes Oldenburg

      Accepted manuscript online: 1 JUL 2016 04:40AM EST | DOI: 10.1002/humu.23041

  14. Informatics

    1. MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch Repair

      Christopher J. Walker, Mario A. Miranda, O'Hern Matthew J., James S. Blachly, Cassandra L. Moyer, Jennifer Ivanovich, Karl W. Krol0l, Ann-Kathrin Eisfeld, Caroline E. Sapp, David G. Mutch, David E. Cohn, Ralf Bundschuh and Paul J Goodfellow

      Accepted manuscript online: 27 JUN 2016 03:20AM EST | DOI: 10.1002/humu.23036

  15. Brief Report

    1. DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

      Muriel Girard, Albane A. Bizet, Alain Lachaux, Emmanuel Gonzales, Emilie Filhol, Sophie Collardeau-Frachon, Cécile Jeanpierre, Charline Henry, Monique Fabre, Loic Viremouneix, Louise Galmiche, Dominique Debray, Christine Bole-Feysot, Patrick Nitschke, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurelia Bertholet, Emmanuel Jacquemin, Alexandra Henrion-Caude and Sophie Saunier

      Accepted manuscript online: 20 JUN 2016 03:00AM EST | DOI: 10.1002/humu.23031

VIEW

  1. 1 - 19

SEARCH

SEARCH BY CITATION