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  1. 1
    R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley, A.M.W. van den Ouweland, A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands, Clinical Genetics, 2014, 85, 4
  2. 2
    Brandon Welch, Salvador Loya, Karen Eilbeck, Kensaku Kawamoto, A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information, Journal of Personalized Medicine, 2014, 4, 2, 176

    CrossRef

  3. 3
    C. Thomas Caskey, Manuel L. Gonzalez-Garay, Stacey Pereira, Amy L. McGuire, Adult Genetic Risk Screening, Annual Review of Medicine, 2014, 65, 1, 1

    CrossRef

  4. 4
    Garry R. Cutting, Annotating DNA Variants Is the Next Major Goal for Human Genetics, The American Journal of Human Genetics, 2014, 94, 1, 5

    CrossRef

  5. 5
    Pushpa Raj Joshi, Dieter Gläser, Carolin Dreßel, Wolfram Kress, Joachim Weis, Marcus Deschauer, Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping, Neuromuscular Disorders, 2014, 24, 1, 43

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  6. 6
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  7. 7
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  8. 8
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    CrossRef

  9. 9
    S. S. Ephraim, N. Anand, A. P. DeLuca, K. R. Taylor, D. L. Kolbe, A. C. Simpson, H. Azaiez, C. M. Sloan, A. E. Shearer, A. R. Hallier, T. L. Casavant, T. E. Scheetz, R. J. H. Smith, T. A. Braun, Cordova: Web-based management of genetic variation data, Bioinformatics, 2014,

    CrossRef

  10. 10
    E. Bragin, E. A. Chatzimichali, C. F. Wright, M. E. Hurles, H. V. Firth, A. P. Bevan, G. J. Swaminathan, DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation, Nucleic Acids Research, 2014, 42, D1, D993

    CrossRef

  11. 11
    David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne-Françoise Roux, Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots, Human Mutation, 2014, 35, 9
  12. 12
    P. Flicek, M. R. Amode, D. Barrell, K. Beal, K. Billis, S. Brent, D. Carvalho-Silva, P. Clapham, G. Coates, S. Fitzgerald, L. Gil, C. G. Giron, L. Gordon, T. Hourlier, S. Hunt, N. Johnson, T. Juettemann, A. K. Kahari, S. Keenan, E. Kulesha, F. J. Martin, T. Maurel, W. M. McLaren, D. N. Murphy, R. Nag, B. Overduin, M. Pignatelli, B. Pritchard, E. Pritchard, H. S. Riat, M. Ruffier, D. Sheppard, K. Taylor, A. Thormann, S. J. Trevanion, A. Vullo, S. P. Wilder, M. Wilson, A. Zadissa, B. L. Aken, E. Birney, F. Cunningham, J. Harrow, J. Herrero, T. J. P. Hubbard, R. Kinsella, M. Muffato, A. Parker, G. Spudich, A. Yates, D. R. Zerbino, S. M. J. Searle, Ensembl 2014, Nucleic Acids Research, 2014, 42, D1, D749

    CrossRef

  13. 13
    Katherine Lambertson, Sharon F. Terry, Free the Data, Genetic Testing and Molecular Biomarkers, 2014, 18, 1, 1

    CrossRef

  14. 14
    Celeste Bento, Melanie J. Percy, Betty Gardie, Tabita Magalhães Maia, Richard Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon, Maria Åström, Drorit Neumann, Susanne Schnittger, Britta Landin, Milen Minkov, Maria Luigia Randi, Stéphane Richard, Nicole Casadevall, William Vainchenker, Susana Rives, Sylvie Hermouet, M. Leticia Ribeiro, Mary Frances McMullin, Holger Cario, Aurelie Chauveau, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de-Paillerets, Didem Altindirek, Felipe Lorenzo, Frederic Lambert, Harlev Dan, Sophie Gad-Lapiteau, Ana Catarina Oliveira, Cédric Rossi, Cristina Fraga, Gennadiy Taradin, Guillermo Martin-Nuñez, Helena Vitória, Herrera Diaz Aguado, Jan Palmblad, Julia Vidán, Luis Relvas, Maria Leticia Ribeiro, Maria Luigi Larocca, Maria Luigia Randi, Maria Pedro Silveira, Melanie Percy, Mor Gross, Ricardo Marques da Costa, Soheir Beshara, Tal Ben-Ami, Valérie Ugo, Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases, Human Mutation, 2014, 35, 1
  15. 15
    Barbara Lanthaler, Stefanie Wieser, Andrea Deutschmann, Anna Schossig, Christine Fauth, Johannes Zschocke, Martina Witsch-Baumgartner, Genotype-based databases for variants causing rare diseases, Gene, 2014, 550, 1, 136

    CrossRef

  16. 16
    D. G. MacArthur, T. A. Manolio, D. P. Dimmock, H. L. Rehm, J. Shendure, G. R. Abecasis, D. R. Adams, R. B. Altman, S. E. Antonarakis, E. A. Ashley, J. C. Barrett, L. G. Biesecker, D. F. Conrad, G. M. Cooper, N. J. Cox, M. J. Daly, M. B. Gerstein, D. B. Goldstein, J. N. Hirschhorn, S. M. Leal, L. A. Pennacchio, J. A. Stamatoyannopoulos, S. R. Sunyaev, D. Valle, B. F. Voight, W. Winckler, C. Gunter, Guidelines for investigating causality of sequence variants in human disease, Nature, 2014, 508, 7497, 469

    CrossRef

  17. 17
    Krishna L. Kanchi, Kimberly J. Johnson, Charles Lu, Michael D. McLellan, Mark D. M. Leiserson, Michael C. Wendl, Qunyuan Zhang, Daniel C. Koboldt, Mingchao Xie, Cyriac Kandoth, Joshua F. McMichael, Matthew A. Wyczalkowski, David E. Larson, Heather K. Schmidt, Christopher A. Miller, Robert S. Fulton, Paul T. Spellman, Elaine R. Mardis, Todd E. Druley, Timothy A. Graubert, Paul J. Goodfellow, Benjamin J. Raphael, Richard K. Wilson, Li Ding, Integrated analysis of germline and somatic variants in ovarian cancer, Nature Communications, 2014, 5,

    CrossRef

  18. 18
    J. A. L. MacArthur, J. Morales, R. E. Tully, A. Astashyn, L. Gil, E. A. Bruford, P. Larsson, P. Flicek, R. Dalgleish, D. R. Maglott, F. Cunningham, Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants, Nucleic Acids Research, 2014, 42, D1, D873

    CrossRef

  19. 19
    Judy Savige, Hayat Dagher, Sue Povey, Mutation Databases for Inherited Renal Disease: Are They Complete, Accurate, Clinically Relevant, and Freely Available?, Human Mutation, 2014, 35, 7
  20. 20
    Aleksander Jamsheer, Magdalena Socha, Anna Sowińska-Seidler, Kinga Telega, Tomasz Trzeciak, Anna Latos-Bieleńska, Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses, Journal of Applied Genetics, 2014, 55, 2, 183

    CrossRef

  21. You have free access to this content21
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  22. 22
    Rosário Santos, Ana Gonçalves, Jorge Oliveira, Emília Vieira, José Pedro Vieira, Teresinha Evangelista, Teresa Moreno, Manuela Santos, Isabel Fineza, Elsa Bronze-da-Rocha, New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy, Journal of Human Genetics, 2014, 59, 8, 454

    CrossRef

  23. 23
    Casandra Riera, Sergio Lois, Xavier de la Cruz, Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles, Wiley Interdisciplinary Reviews: Computational Molecular Science, 2014, 4, 3
  24. 24
    L. Varga, I. Mašindová, M. Hučková, Z. Kabátová, D. Gašperíková, I. Klimeš, M. Profant, Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications, European Archives of Oto-Rhino-Laryngology, 2014, 271, 6, 1401

    CrossRef

  25. 25
    Rachel Thompson, Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Béroud, Ivo G. Gut, Mats G. Hansson, Peter-Bram A. ’t Hoen, George P. Patrinos, Hugh Dawkins, Monica Ensini, Kurt Zatloukal, David Koubi, Emma Heslop, Justin E. Paschall, Manuel Posada, Peter N. Robinson, Kate Bushby, Hanns Lochmüller, RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research, Journal of General Internal Medicine, 2014, 29, S3, 780

    CrossRef

  26. 26
    Christopher M. Watson, Laura A. Crinnion, Joanne E. Morgan, Sally M. Harrison, Christine P. Diggle, Julian Adlard, Helen A. Lindsay, Nick Camm, Ruth Charlton, Eamonn Sheridan, David T. Bonthron, Graham R. Taylor, Ian M. Carr, Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface, Human Mutation, 2014, 35, 4
  27. 27
    K.J. Peall, K. Ritz, A.J. Waite, J.L. Groen, H.R. Morris, F. Baas, D.J. Blake, M.A.J. Tijssen, SGCZ mutations are unlikely to be associated with myoclonus dystonia, Neuroscience, 2014, 272, 88

    CrossRef

  28. You have free access to this content28
    Tobias Eisenberger, Nataliya Di Donato, Shahid M. Baig, Christine Neuhaus, Anke Beyer, Eva Decker, Dirk Mürbe, Christian Decker, Carsten Bergmann, Hanno J. Bolz, Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the “DFNA48 Gene”, as a Cause of Deafness, Human Mutation, 2014, 35, 5
  29. 29
    Thenral S. Geetha, Kulandaimanuvel Antony Michealraj, Madhulika Kabra, Gurjit Kaur, Ramesh C. Juyal, B.K. Thelma, Targeted Deep Resequencing Identifies MID2 Mutation for X-Linked Intellectual Disability with Varied Disease Severity in a Large Kindred from India, Human Mutation, 2014, 35, 1
  30. 30
    Lauren Lawrence, Murat Sincan, Thomas Markello, David R. Adams, Fred Gill, Rena Godfrey, Gretchen Golas, Catherine Groden, Dennis Landis, Michele Nehrebecky, Grace Park, Ariane Soldatos, Cynthia Tifft, Camilo Toro, Colleen Wahl, Lynne Wolfe, William A. Gahl, Cornelius F. Boerkoel, The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience, Genetics in Medicine, 2014,

    CrossRef

  31. 31
    Yu Lin, Yongqun He, The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events, Journal of Biomedical Semantics, 2014, 5, 1, 19

    CrossRef

  32. 32
    D. Karolchik, G. P. Barber, J. Casper, H. Clawson, M. S. Cline, M. Diekhans, T. R. Dreszer, P. A. Fujita, L. Guruvadoo, M. Haeussler, R. A. Harte, S. Heitner, A. S. Hinrichs, K. Learned, B. T. Lee, C. H. Li, B. J. Raney, B. Rhead, K. R. Rosenbloom, C. A. Sloan, M. L. Speir, A. S. Zweig, D. Haussler, R. M. Kuhn, W. J. Kent, The UCSC Genome Browser database: 2014 update, Nucleic Acids Research, 2014, 42, D1, D764

    CrossRef

  33. 33
    B. Giardine, J. Borg, E. Viennas, C. Pavlidis, K. Moradkhani, P. Joly, M. Bartsakoulia, C. Riemer, W. Miller, G. Tzimas, H. Wajcman, R. C. Hardison, G. P. Patrinos, Updates of the HbVar database of human hemoglobin variants and thalassemia mutations, Nucleic Acids Research, 2014, 42, D1, D1063

    CrossRef

  34. 34
    Mauno Vihinen, Variation ontology: annotator guide, Journal of Biomedical Semantics, 2014, 5, 1, 9

    CrossRef

  35. 35
    Paulo Gaspar, Pedro Lopes, Jorge Oliveira, Rosário Santos, Raymond Dalgleish, José Luís Oliveira, Variobox: Automatic Detection and Annotation of Human Genetic Variants, Human Mutation, 2014, 35, 2
  36. You have free access to this content36
    Aideen M. McInerney-Leo, Mhairi S. Marshall, Brooke Gardiner, Diana E. Benn, Janelle McFarlane, Bruce G. Robinson, Matthew A. Brown, Paul J. Leo, Roderick J. Clifton-Bligh, Emma L. Duncan, Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas, Clinical Endocrinology, 2014, 80, 1
  37. 37
    Isabelle Schrauwen, Manou Sommen, Jason J. Corneveaux, Rebecca A. Reiman, Nicole J. Hackett, Charlotte Claes, Kathleen Claes, Maria Bitner-Glindzicz, Paul Coucke, Guy Van Camp, Matthew J. Huentelman, A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing, American Journal of Medical Genetics Part A, 2013, 161, 1
  38. 38
    Pedro Lopes, José Luís Oliveira, An innovative portal for rare genetic diseases research: The semantic Diseasecard, Journal of Biomedical Informatics, 2013, 46, 6, 1108

    CrossRef

  39. 39
    Zeynep Tümer, An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome, Human Mutation, 2013, 34, 3
  40. 40
    K. Verspoor, A. Jimeno Yepes, L. Cavedon, T. McIntosh, A. Herten-Crabb, Z. Thomas, J.-P. Plazzer, Annotating the biomedical literature for the human variome, Database, 2013, 2013, 0, bat019

    CrossRef

  41. 41
    Y. Bromberg, Building a Genome Analysis Pipeline to Predict Disease Risk and Prevent Disease, Journal of Molecular Biology, 2013, 425, 21, 3993

    CrossRef

  42. 42
    Nicholas Ah Mew, Lauren Krivitzky, Robert McCarter, Mark Batshaw, Mendel Tuchman, Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ, The Journal of Pediatrics, 2013, 162, 2, 324

    CrossRef

  43. 43
    Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto-van Silfhout, Caroline Pottinger, Bregje W.M. Bon, Ivonne J.H.M. Minderhout, Ronelle Snowdowne, Christian A.C. Lans, Merel Boogaard, Margot M.L. Linssen, Linda Vijfhuizen, Michiel J.R. Wielen, M.J. (Ellen) Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton-Smith, Bert B.A. Vries, Raoul C.M. Hennekam, Martine J. Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben-Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke Burgt, Natalie Canham, Kate E. Chandler, Krystyna Chrzanowska, Amanda L. Collins, Teresa Toni, John Dean, Nicolette S. Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska-Walasek, Nancy Kramer, Saskia M. Maas, Patricia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury-Ecob, Sarah M. Nikkel, Michael J. Parker, Luis A. Pérez-Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Smigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tuysuz, Albertien M. Eerde, Catherine Vincent-Delorme, Louise C. Wilson, Gozde Yesil, Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients, Human Mutation, 2013, 34, 11
  44. 44
    Amy Masson, Bente Talseth-Palmer, Tiffany-Jane Evans, Desma Grice, Konsta Duesing, Garry Hannan, Rodney Scott, Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer, Genes, 2013, 4, 4, 536

    CrossRef

  45. 45
    J. J. Johnston, L. G. Biesecker, Databases of genomic variation and phenotypes: existing resources and future needs, Human Molecular Genetics, 2013, 22, R1, R27

    CrossRef

  46. 46
    Hee Sung Hwang, Gi Won Shin, Han Jin Park, Chang Y. Ryu, Gyoo Yeol Jung, Effect of temperature gradients on single-strand conformation polymorphism analysis in a capillary electrophoresis system using Pluronic polymer matrix, Analytica Chimica Acta, 2013, 793, 114

    CrossRef

  47. 47
    P. Flicek, I. Ahmed, M. R. Amode, D. Barrell, K. Beal, S. Brent, D. Carvalho-Silva, P. Clapham, G. Coates, S. Fairley, S. Fitzgerald, L. Gil, C. Garcia-Giron, L. Gordon, T. Hourlier, S. Hunt, T. Juettemann, A. K. Kahari, S. Keenan, M. Komorowska, E. Kulesha, I. Longden, T. Maurel, W. M. McLaren, M. Muffato, R. Nag, B. Overduin, M. Pignatelli, B. Pritchard, E. Pritchard, H. S. Riat, G. R. S. Ritchie, M. Ruffier, M. Schuster, D. Sheppard, D. Sobral, K. Taylor, A. Thormann, S. Trevanion, S. White, S. P. Wilder, B. L. Aken, E. Birney, F. Cunningham, I. Dunham, J. Harrow, J. Herrero, T. J. P. Hubbard, N. Johnson, R. Kinsella, A. Parker, G. Spudich, A. Yates, A. Zadissa, S. M. J. Searle, Ensembl 2013, Nucleic Acids Research, 2013, 41, D1, D48

    CrossRef

  48. 48
    Amy Farmer, Ségolène Aymé, Miguel de Heredia, Pietro Maffei, Susan McCafferty, Wojciech Młynarski, Virginia Nunes, Kay Parkinson, Véronique Paquis-Flucklinger, Julia Rohayem, Richard Sinnott, Vallo Tillmann, Lisbeth Tranebjærg, Timothy G Barrett, EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome, BMC Pediatrics, 2013, 13, 1, 130

    CrossRef

  49. 49
    Jorge Oliveira, Márcia E Oliveira, Wolfram Kress, Ricardo Taipa, Manuel Melo Pires, Pascale Hilbert, Peter Baxter, Manuela Santos, Henk Buermans, Johan T den Dunnen, Rosário Santos, Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database, European Journal of Human Genetics, 2013, 21, 5, 540

    CrossRef

  50. You have free access to this content50
    Lora J.H. Bean, Stuart W. Tinker, Cristina Silva, Madhuri R. Hegde, Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data, Human Mutation, 2013, 34, 9
  51. You have free access to this content51
    S P Daiger, L S Sullivan, S J Bowne, Genes and mutations causing retinitis pigmentosa, Clinical Genetics, 2013, 84, 2
  52. 52
    L. Schöls, N. Schlipf, A. S. Söhn, P. Bauer, Klinik und Genetik der spastischen Spinalparalysen, medizinische genetik, 2013, 25, 2, 249

    CrossRef

  53. 53
    Mark T. Handley, Deborah J. Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Danai Bem, Sarah M. Carpanini, Guntram Borck, Loreto Martorell, Claudia Izzi, Francesca Faravelli, Patrizia Accorsi, Lorenzo Pinelli, Lina Basel-Vanagaite, Gabriela Peretz, Ghada M.H. Abdel-Salam, Maha S. Zaki, Anna Jansen, David Mowat, Ian Glass, Helen Stewart, Grazia Mancini, Damien Lederer, Tony Roscioli, Fabienne Giuliano, Astrid S. Plomp, Arndt Rolfs, John M. Graham, Eva Seemanova, Pilar Poo, Àngels García-Cazorla, Patrick Edery, Ian J. Jackson, Eamonn R. Maher, Irene A. Aligianis, Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome, Human Mutation, 2013, 34, 5
  54. 54
    Andrea Kerti, Rózsa Csohány, László Wagner, Eszter Jávorszky, Erika Maka, Kálmán Tory, NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis, Pediatric Nephrology, 2013, 28, 10, 2061

    CrossRef

  55. 55
    Tudor Groza, Tania Tudorache, Michel Dumontier, State of the art and open challenges in community-driven knowledge curation, Journal of Biomedical Informatics, 2013, 46, 1, 1

    CrossRef

  56. 56
    Hanka Venselaar, Franscesca Camilli, Shima Gholizadeh, Marlou Snelleman, Han G Brunner, Gert Vriend, Status quo of annotation of human disease variants, BMC Bioinformatics, 2013, 14, 1, 352

    CrossRef

  57. 57
    Omer An, Attila Gursoy, Aytemiz Gurgey, Ozlem Keskin, Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients, Protein Science, 2013, 22, 6
  58. 58
    Anne Polvi, Henna Linturi, Teppo Varilo, Anna-Kaisa Anttonen, Myles Byrne, Ivo F.A.C. Fokkema, Henrikki Almusa, Anthony Metzidis, Kristiina Avela, Pertti Aula, Marjo Kestilä, Juha Muilu, The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era, Human Mutation, 2013, 34, 11
  59. 59
    J. P. Plazzer, R. H. Sijmons, M. O. Woods, P. Peltomäki, B. Thompson, J. T. Dunnen, F. Macrae, The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome, Familial Cancer, 2013, 12, 2, 175

    CrossRef

  60. 60
    Thomas A. Peterson, Emily Doughty, Maricel G. Kann, Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants, Journal of Molecular Biology, 2013, 425, 21, 4047

    CrossRef

  61. 61
    Stephen G. Gonsalves, David Ng, Jennifer J. Johnston, Jamie K. Teer, Peter D. Stenson, David N. Cooper, James C. Mullikin, Leslie G. Biesecker, Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations, Anesthesiology, 2013, 119, 5, 1043

    CrossRef

  62. 62
    Robert C. Green, Heidi L. Rehm, Isaac S. Kohane, Genomic and Personalized Medicine, 2013,

    CrossRef

  63. You have free access to this content63
    Olubunmi Abel, John F Powell, Peter M. Andersen, Ammar Al-Chalabi, ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics, Human Mutation, 2012, 33, 9
  64. 64
    Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K. Bruce, Andrew R. Cullinane, Rene Romero, Richard Chang, Oanez Ackermann, Clarisse Baumann, Hakan Cangul, Fatma Cakmak Celik, Canan Aygun, Richard Coward, Carlo Dionisi-Vici, Barbara Sibbles, Carol Inward, Chong Ae Kim, Judith Klumperman, A. S. Knisely, Steven P. Watson, Paul Gissen, Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome, Human Mutation, 2012, 33, 12
  65. You have free access to this content65
    Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner, Johan T. den Dunnen, Curating gene variant databases (LSDBs): Toward a universal standard, Human Mutation, 2012, 33, 2
  66. You have free access to this content66
    María-Jesús Sobrido, Pilar Cacheiro, Ángel Carracedo, Lars Bertram, Databases for neurogenetics: Introduction, overview, and challenges, Human Mutation, 2012, 33, 9
  67. 67
    Wagner C. S. Magalhães, Maíra R. Rodrigues, Donnys Silva, Giordano Soares-Souza, Márcia L. Iannini, Gustavo C. Cerqueira, Alessandra C. Faria-Campos, Eduardo Tarazona-Santos, DIVERGENOME: A Bioinformatics Platform to Assist Population Genetics and Genetic Epidemiology Studies, Genetic Epidemiology, 2012, 36, 4
  68. 68
    T. Kamphans, P. M. Krawitz, GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes, Bioinformatics, 2012, 28, 19, 2515

    CrossRef

  69. 69
    D Leongamornlert, N Mahmud, M Tymrakiewicz, E Saunders, T Dadaev, E Castro, C Goh, K Govindasami, M Guy, L O'Brien, E Sawyer, A Hall, R Wilkinson, D Easton, D Goldgar, R Eeles, Z Kote-Jarai, Germline BRCA1 mutations increase prostate cancer risk, British Journal of Cancer, 2012, 106, 10, 1697

    CrossRef

  70. You have free access to this content70
    Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish, Richard G. H. Cotton, Guidelines for establishing locus specific databases, Human Mutation, 2012, 33, 2
  71. 71
    Ebele Usifo, Sarah E. A. Leigh, Ros A. Whittall, Nicholas Lench, Alison Taylor, Corin Yeats, Christine A. Orengo, Andrew C. R. Martin, Jacopo Celli, Steve E. Humphries, Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment, Annals of Human Genetics, 2012, 76, 5
  72. You have free access to this content72
    George P. Patrinos, David N. Cooper, Erik van Mulligen, Vassiliki Gkantouna, Giannis Tzimas, Zuotian Tatum, Erik Schultes, Marco Roos, Barend Mons, Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain, Human Mutation, 2012, 33, 11
  73. 73
    Raquel Duran, Alisdair McNeill, Atul Mehta, Derralyn Hughes, Timothy Cox, Patrick Deegan, Anthony H.V. Schapira, John Hardy, Novel pathogenic mutations in the glucocerebrosidase locus, Molecular Genetics and Metabolism, 2012, 106, 4, 495

    CrossRef

  74. You have free access to this content74
    Tomasz Adamusiak, Helen Parkinson, Juha Muilu, Erik Roos, Kasper Joeri van der Velde, Gudmundur A. Thorisson, Myles Byrne, Chao Pang, Sirisha Gollapudi, Vincent Ferretti, Hans Hillege, Anthony J. Brookes, Morris A. Swertz, Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information, Human Mutation, 2012, 33, 5
  75. 75
    David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli, Vassili Valayannopoulos, Jean-François Benoist, Jean-Marc Pinard, Gilles Simard, Olivier Douay, Kumaran Deiva, Alexandra Afenjar, Delphine Héron, François Rivier, Brigitte Chabrol, Fabienne Prieur, François Cartault, Gaëlle Pitelet, Alice Goldenberg, Soumeya Bekri, Marion Gerard, Richard Delorme, Marc Tardieu, Nicole Porchet, Christine Vianey-Saban, Joseph Vamecq, Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms, Orphanet Journal of Rare Diseases, 2012, 7, 1, 96

    CrossRef

  76. You have free access to this content76
    Bruce Gottlieb, Lenore K. Beitel, Abbesha Nadarajah, Miltiadis Paliouras, Mark Trifiro, The androgen receptor gene mutations database: 2012 update, Human Mutation, 2012, 33, 5
  77. 77
    Stephanie Cote, Suzanna L. Arcand, Robert Royer, Serge Nolet, Anne-Marie Mes-Masson, Parviz Ghadirian, William D. Foulkes, Marc Tischkowitz, Steven A. Narod, Diane Provencher, Patricia N. Tonin, The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent, Breast Cancer Research and Treatment, 2012, 131, 1, 333

    CrossRef

  78. 78
    Kapil Raj Pandey, Narendra Maden, Barsha Poudel, Sailendra Pradhananga, Amit Kumar Sharma, The Curation of Genetic Variants: Difficulties and Possible Solutions, Genomics, Proteomics & Bioinformatics, 2012, 10, 6, 317

    CrossRef

  79. 79
    Vivianna M. Van Deerlin, The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice, Acta Neuropathologica, 2012, 124, 3, 297

    CrossRef

  80. 80
    Philippe M. Campeau, James T. Lu, Brian C. Dawson, Ivo F. A. C. Fokkema, Stephen P. Robertson, Richard A. Gibbs, Brendan H. Lee, The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms, Human Mutation, 2012, 33, 11
  81. You have free access to this content81
    Joanna L. Elson, Mary G. Sweeney, Vincent Procaccio, John W. Yarham, Antonio Salas, Qing-Peng Kong, Francois H. van der Westhuizen, Robert D.S. Pitceathly, David R. Thorburn, Marie T. Lott, Douglas C. Wallace, Robert W. Taylor, Robert McFarland, Toward a mtDNA locus-specific mutation database using the LOVD platform, Human Mutation, 2012, 33, 9
  82. 82
    Achille Zappa, Andrea Splendiani, Paolo Romano, Towards linked open gene mutations data, BMC Bioinformatics, 2012, 13, Suppl 4, S7

    CrossRef

  83. 83
    Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B. Jensen, Pierre Cochat, Stephane DeCramer, Joanne Dixon, Regen Drouin, Marni J. Falk, Holly Feret, Robert Gise, Alasdair Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin, Vincent Morinière, David Mowat, Luisa Murer, Hiep T. Nguyen, Gabriela Peretz-Amit, Eric Pierce, Emily Place, Nancy Rodig, Ann Salerno, Sujatha Sastry, Tadashi Sato, John A. Sayer, Gerard C.P. Schaafsma, Lawrence Shoemaker, David W. Stockton, Wen-Hann Tan, Romano Tenconi, Philippe Vanhille, Abhay Vats, Xinjing Wang, Berta Warman, Richard G. Weleber, Susan M. White, Carolyn Wilson-Brackett, Dina J. Zand, Michael Eccles, Lisa A. Schimmenti, Laurence Heidet, Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database, Human Mutation, 2012, 33, 3
  84. 84
    Jeroen F J Laros, André Blavier, Johan T den Dunnen, Peter E M Taschner, A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form, BMC Bioinformatics, 2011, 12, Suppl 4, S5

    CrossRef

  85. 85
    Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré, A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K, Orphanet Journal of Rare Diseases, 2011, 6, 1, 87

    CrossRef

  86. You have free access to this content86
    Annika Lindblom, Peter N. Robinson, Bioinformatics for Human Genetics: Promises and Challenges, Human Mutation, 2011, 32, 5
  87. 87
    Raymond Dalgleish, William S Oetting, Arleen D Auerbach, Jacques S Beckmann, Anne Cambon-Thomsen, Andrew Devereau, Marc S Greenblatt, George P Patrinos, Graham R Taylor, Mauno Vihinen, Anthony J Brookes, Clarity and claims in variation/mutation databasing, Nature Biotechnology, 2011, 29, 9, 790

    CrossRef

  88. 88
    Danny C C Poo, Shaojiang Cai, James T L Mah, UASIS: Universal Automatic SNP Identification System, BMC Genomics, 2011, 12, Suppl 3, S9

    CrossRef

  89. 89
    Pedro Lopes, Raymond Dalgleish, José Luís Oliveira, WAVe: web analysis of the variome, Human Mutation, 2011, 32, 7
  90. 90
    Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A. Gibbs, Rui Chen, Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis, Human Mutation, 2011, 32, 12
  91. 91
    Elizabeth A. Worthey, Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing–Derived Variants for Clinical Diagnosis, Current Protocols in Human Genetics,
  92. 92
    John M. Hancock, Locus-Specific Database (Locus-Specific Mutation Database, LSDB), Dictionary of Bioinformatics and Computational Biology,
  93. 93
    Joel B. Krier, Robert C. Green, Management of Incidental Findings in Clinical Genomic Sequencing, Current Protocols in Human Genetics,