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There are 90043 results for: content related to: VAR-MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance

  1. You have free access to this content
    Analysis of DNA sequence variants detected by high-throughput sequencing

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 599–608, David R. Adams, Murat Sincan, Karin Fuentes Fajardo, James C. Mullikin, Tyler M. Pierson, Camilo Toro, Cornelius F. Boerkoel, Cynthia J. Tifft, William A. Gahl and Tom C. Markello

    Version of Record online : 28 FEB 2012, DOI: 10.1002/humu.22035

  2. Central nervous system dysfunction in a mouse model of Fa2h deficiency


    Volume 59, Issue 7, July 2011, Pages: 1009–1021, Kathleen A. Potter, Michael J. Kern, George Fullbright, Jacek Bielawski, Steven S. Scherer, Sabrina W. Yum, Jian J. Li, Hua Cheng, Xianlin Han, Jagadish Kummetha Venkata, P. Akbar Ali Khan, Bärbel Rohrer and Hiroko Hama

    Version of Record online : 13 APR 2011, DOI: 10.1002/glia.21172

  3. Sphingolipid α-Hydroxylase (Scs7p)

    Standard Article

    Encyclopedia of Inorganic and Bioinorganic Chemistry

    Michael G Malkowski

    Published Online : 19 JUN 2017, DOI: 10.1002/9781119951438.eibc2511

  4. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

    Annals of Neurology

    Volume 68, Issue 5, November 2010, Pages: 611–618, Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden and Susan J. Hayflick

    Version of Record online : 17 SEP 2010, DOI: 10.1002/ana.22122

  5. You have free access to this content
    A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab Family

    Annals of Human Genetics

    Volume 77, Issue 6, November 2013, Pages: 488–503, Habiba S. Al Safar, Heather J. Cordell, Osman Jafer, Denise Anderson, Sarra E. Jamieson, Michaela Fakiola, Kamal Khazanehdari, Guan K. Tay and Jenefer M. Blackwell

    Version of Record online : 13 AUG 2013, DOI: 10.1111/ahg.12036

  6. You have free access to this content
    Detecting false-positive signals in exome sequencing

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 609–613, Karin V. Fuentes Fajardo, David Adams, NISC Comparative Sequencing Program, Christopher E. Mason, Murat Sincan, Cynthia Tifft, Camilo Toro, Cornelius F Boerkoel, William Gahl and Thomas Markello

    Version of Record online : 5 MAR 2012, DOI: 10.1002/humu.22033

  7. You have free access to this content
    Exome and whole-genome sequencing for gene discovery: The future is now!

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 591–592, Jacek Majewski and David S. Rosenblatt

    Version of Record online : 12 MAR 2012, DOI: 10.1002/humu.22055

  8. You have full text access to this OnlineOpen article
    Unlocking the secondary gene-pool of barley with next-generation sequencing

    Plant Biotechnology Journal

    Volume 12, Issue 8, October 2014, Pages: 1122–1131, Neele Wendler, Martin Mascher, Christiane Nöh, Axel Himmelbach, Uwe Scholz, Brigitte Ruge-Wehling and Nils Stein

    Version of Record online : 6 JUL 2014, DOI: 10.1111/pbi.12219

  9. You have free access to this content
    An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 614–626, Cristina Dias, Murat Sincan, Praveen F. Cherukuri, Rosemarie Rupps, Yan Huang, Hannah Briemberg, Kathryn Selby, James C. Mullikin, Thomas C. Markello, David R. Adams, William A. Gahl and Cornelius F. Boerkoel

    Version of Record online : 28 FEB 2012, DOI: 10.1002/humu.22032

  10. Assessing the Enrichment Performance in Targeted Resequencing Experiments

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 635–641, Peter Frommolt, Ali T. Abdallah, Janine Altmüller, Susanne Motameny, Holger Thiele, Christian Becker, Kathryn Stemshorn, Matthias Fischer, Tobias Freilinger and Peter Nürnberg

    Version of Record online : 28 FEB 2012, DOI: 10.1002/humu.22036

  11. Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation

    European Journal of Neurology

    Volume 19, Issue 11, November 2012, Pages: e127–e129, A. Tonelli, M. G. D'Angelo, F. Arrigoni, E. Brighina, A. Arnoldi, A. Citterio, N. Bresolin and M. T. Bassi

    Version of Record online : 27 AUG 2012, DOI: 10.1111/j.1468-1331.2012.03838.x

  12. Chediak–Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1474–1483, Irini Manoli, Gretchen Golas, Wendy Westbroek, Thierry Vilboux, Thomas C. Markello, Wendy Introne, Dawn Maynard, Ben Pederson, Ekaterini Tsilou, Michael B. Jordan, P. Suzanne Hart, James G. White, William A. Gahl and Marjan Huizing

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33389

  13. Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 95–97, M. S. Zaki, L. Selim, L. Mansour, I. G. Mahmoud, A. G. Fenstermaker, S. B. Gabriel and J. G. Gleeson

    Version of Record online : 11 DEC 2014, DOI: 10.1111/cge.12516

  14. You have free access to this content
    Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35

    Movement Disorders Clinical Practice

    Volume 2, Issue 1, March 2015, Pages: 56–60, Cecilia Marelli, Mustafa A. Salih, Karine Nguyen, Martial Mallaret, Nicolas Leboucq, Hamdy H. Hassan, Nathalie Drouot, Pierre Labauge and Michel Koenig

    Version of Record online : 18 FEB 2015, DOI: 10.1002/mdc3.12118

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    Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

    Human Mutation

    Volume 31, Issue 4, April 2010, Pages: E1251–E1260, Katherine J. Dick, Matthias Eckhardt, Coro Paisán-Ruiz, Aisha Alkhayat Alshehhi, Christos Proukakis, Naomi A. Sibtain, Helena Maier, Reza Sharifi, Michael A. Patton, Wafa Bashir, Roshan Koul, Sandy Raeburn, Volkmar Gieselmann, Henry Houlden and Andrew H. Crosby

    Version of Record online : 26 JAN 2010, DOI: 10.1002/humu.21205

  16. SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 85–89, X. Liao, Y. Luo, Z. Zhan, J. Du, Z. Hu, J. Wang, J. Guo, Z. Hu, X. Yan, Q. Pan, K. Xia, B. Tang and L. Shen

    Version of Record online : 26 JAN 2014, DOI: 10.1111/cge.12336

  17. Epigenome-wide DNA methylation assay reveals placental epigenetic markers for noninvasive fetal single-nucleotide polymorphism genotyping in maternal plasma


    Volume 54, Issue 10, October 2014, Pages: 2523–2533, Xueling Ou, Huan Wang, Dongyang Qu, Yongzhen Chen, Jun Gao and Hongyu Sun

    Version of Record online : 17 APR 2014, DOI: 10.1111/trf.12659

  18. You have free access to this content
    FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

    Developmental Medicine & Child Neurology


    Version of Record online : 18 MAY 2011, DOI: 10.1111/j.1469-8749.2011.03993.x

  19. Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 350–355, O Dogu, CE Krebs, H Kaleagasi, Z Demirtas, N Oksuz, RH Walker and C Paisán-Ruiz

    Version of Record online : 21 JAN 2013, DOI: 10.1111/cge.12079

  20. The cardiac calsequestrin gene (CASQ2) is up-regulated in the thyroid in patients with Graves’ ophthalmopathy – support for a role of autoimmunity against calsequestrin as the triggering event

    Clinical Endocrinology

    Volume 73, Issue 4, October 2010, Pages: 522–528, Leon Wescombe, Hooshang Lahooti, Bamini Gopinath and Jack R. Wall

    Version of Record online : 18 DEC 2009, DOI: 10.1111/j.1365-2265.2009.03753.x