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There are 107684 results for: content related to: GE nomes M anagement A pplication ( GEM .app): A New Software Tool for Large-Scale Collaborative Genome Analysis

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    Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 950–956, Michael Gonzalez, Marni J. Falk, Xiaowu Gai, Richard Postrel, Rebecca Schüle and Stephan Zuchner

    Version of Record online : 12 AUG 2015, DOI: 10.1002/humu.22836

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    PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 931–940, Orion J. Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley, Heather Trang, Andriy Misyura, Tal Friedman, Chandree Beaulieu, William P. Bone, Amanda E. Links, Nicole L. Washington, Melissa A. Haendel, Peter N. Robinson, Cornelius F. Boerkoel, David Adams, William A. Gahl, Kym M. Boycott and Michael Brudno

    Version of Record online : 31 AUG 2015, DOI: 10.1002/humu.22851

  3. You have full text access to this OnlineOpen article
    Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1135–1144, Nick Dand, Reiner Schulz, Michael E. Weale, Laura Southgate, Rebecca J. Oakey, Michael A. Simpson and Thomas Schlitt

    Version of Record online : 7 OCT 2015, DOI: 10.1002/humu.22906

  4. You have full text access to this OnlineOpen article
    Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 903–914, Eric Samorodnitsky, Benjamin M. Jewell, Raffi Hagopian, Jharna Miya, Michele R. Wing, Ezra Lyon, Senthilkumar Damodaran, Darshna Bhatt, Julie W. Reeser, Jharna Datta and Sameek Roychowdhury

    Version of Record online : 15 JUL 2015, DOI: 10.1002/humu.22825

  5. A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1721–1726, Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H. Hoefsloot, Erik-Jan Kamsteeg, Arjen R. Mensenkamp, Richard J. T. Rodenburg, Helger G. Yntema, Liesbeth Spruijt, Sascha Vermeer, Tuula Rinne, Koen L. van Gassen, Danielle Bodmer, Dorien Lugtenberg, Rick de Reuver, Wendy Buijsman, Ronny C. Derks, Nienke Wieskamp, Bert van den Heuvel, Marjolijn J.L. Ligtenberg, Hannie Kremer, David A. Koolen, Bart P.C. van de Warrenburg, Frans P.M. Cremers, Carlo L.M. Marcelis, Jan A.M. Smeitink, Saskia B. Wortmann, Wendy A.G. van Zelst-Stams, Joris A. Veltman, Han G. Brunner, Hans Scheffer and Marcel R. Nelen

    Version of Record online : 18 OCT 2013, DOI: 10.1002/humu.22450

  6. Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 1026–1034, Christopher G. Smith, Marc Naven, Rebecca Harris, James Colley, Hannah West, Ning Li, Yuan Liu, Richard Adams, Timothy S. Maughan, Laura Nichols, Richard Kaplan, Michael J. Wagner, Howard L. McLeod and Jeremy P. Cheadle

    Version of Record online : 20 MAY 2013, DOI: 10.1002/humu.22333

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    MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 540–548, Lishuang Shen, Maria Angela Diroma, Michael Gonzalez, Daniel Navarro-Gomez, Jeremy Leipzig, Marie T. Lott, Mannis van Oven, Douglas C. Wallace, Colleen Clarke Muraresku, Zarazuela Zolkipli-Cunningham, Patrick F. Chinnery, Marcella Attimonelli, Stephan Zuchner, Marni J. Falk and Xiaowu Gai

    Version of Record online : 21 MAR 2016, DOI: 10.1002/humu.22974

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    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 815–822, Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman and Christian Gilissen

    Version of Record online : 11 JUN 2015, DOI: 10.1002/humu.22813

  9. Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 105–116, Juan L. Rodriguez-Flores, Khalid Fakhro, Neil R. Hackett, Jacqueline Salit, Jennifer Fuller, Francisco Agosto-Perez, Maey Gharbiah, Joel A. Malek, Mahmoud Zirie, Amin Jayyousi, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Lotfi Chouchane, Dora J. Stadler, Jason G. Mezey and Ronald G. Crystal

    Version of Record online : 10 NOV 2013, DOI: 10.1002/humu.22460

  10. An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 899–907, Renjie Tan, Yadong Wang, Sarah E. Kleinstein, Yongzhuang Liu, Xiaolin Zhu, Hongzhe Guo, Qinghua Jiang, Andrew S. Allen and Mingfu Zhu

    Version of Record online : 1 MAY 2014, DOI: 10.1002/humu.22537

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    Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 57–65, Hashem A. Shihab, Julian Gough, David N. Cooper, Peter D. Stenson, Gary L. A. Barker, Keith J. Edwards, Ian N. M. Day and Tom R. Gaunt

    Version of Record online : 2 NOV 2012, DOI: 10.1002/humu.22225

  12. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

    Human Mutation

    Volume 37, Issue 3, March 2016, Pages: 235–241, Xiaoming Liu, Chunlei Wu, Chang Li and Eric Boerwinkle

    Version of Record online : 5 JAN 2016, DOI: 10.1002/humu.22932

  13. You have full text access to this OnlineOpen article
    UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

    Human Mutation

    Volume 37, Issue 5, May 2016, Pages: 439–446, David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Arnaud Blanchard, Morgane Miltgen, Amélie Pinard, Nicolas Lévy, Gwenaëlle Collod-Béroud and Christophe Béroud

    Version of Record online : 22 FEB 2016, DOI: 10.1002/humu.22965

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    New Tools of the Trade for Large-scale Collaborative Genome Analysis

    Human Mutation

    Volume 34, Issue 6, June 2013, Page: v, Madhuri Hegde

    Version of Record online : 20 MAY 2013, DOI: 10.1002/humu.22188

  15. Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 836–841, Csilla H. Lazar, Adva Kimchi, Prasanthi Namburi, Mousumi Mutsuddi, Lina Zelinger, Avigail Beryozkin, Shiran Ben-Simhon, Alexey Obolensky, Ziva Ben-Neriah, Zohar Argov, Eli Pikarsky, Yakov Fellig, Devorah Marks-Ohana, Rinki Ratnapriya, Eyal Banin, Dror Sharon and Anand Swaroop

    Version of Record online : 14 JUL 2015, DOI: 10.1002/humu.22822

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    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  17. Whole-Exome Sequencing Identifies a Variant in TMEM132E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 98–105, Jiangxia Li, Xiaohan Zhao, Qian Xin, Shan Shan, Baichun Jiang, Yecheng Jin, Huijun Yuan, Pu Dai, Ruo Xiao, Qingyan Zhang, Jingjing Xiao, Changshun Shao, Yaoqin Gong and Qiji Liu

    Version of Record online : 28 NOV 2014, DOI: 10.1002/humu.22712

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    GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 1009–1014, P. Y. Billie Au, Jing You, Oana Caluseriu, Jeremy Schwartzentruber, Jacek Majewski, Francois P. Bernier, Marcia Ferguson, David Valle, Jillian S. Parboosingh, Nara Sobreira, A. Micheil Innes and Antonie D. Kline

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22837

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    The Genomic Birthday Paradox: How Much Is Enough?

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 989–997, Peter Krawitz, Orion Buske, Na Zhu, Michael Brudno and Peter N. Robinson

    Version of Record online : 20 AUG 2015, DOI: 10.1002/humu.22848

  20. Alström Syndrome: Mutation Spectrum of ALMS1

    Human Mutation

    Volume 36, Issue 7, July 2015, Pages: 660–668, Jan D. Marshall, Jean Muller, Gayle B. Collin, Gabriella Milan, Stephen F. Kingsmore, Darrell Dinwiddie, Emily G. Farrow, Neil A. Miller, Francesca Favaretto, Pietro Maffei, Hélène Dollfus, Roberto Vettor and Jürgen K. Naggert

    Version of Record online : 18 MAY 2015, DOI: 10.1002/humu.22796