Human Mutation, 1059-7794

Journal

  1. 2020
  2. Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., ... Brunner, H. G. (2020). A mutation update for the FLNC gene in myopathies and cardiomyopathies. Human Mutation, 41(6), 1091-1111. https://doi.org/10.1002/humu.24004
  3. Lecoquierre, F., Brehin, A-C., Coutant, S., Coursimault, J., Bazin, A., Finck, W., Benoist, G., Begorre, M., Beneteau, C., Cailliez, D., Chenal, P., De Jong, M., Degre, S., Devisme, L., Francannet, C., Gerard, B., Jeanne, C., Joubert, M., Journel, H., ... Gerard, M. (2020). Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Human Mutation, 41(5), 926-933. https://doi.org/10.1002/humu.23998
  4. Barnicoat, A., Low, K., Gerkes, E. H., Fry, A. E., Parker, M. J., O'Driscoll, M., Charles, P., Cox, H., Marey, I., Keren, B., Rinne, T., McEntagart, M., Ramachandran, V., Drury, S., Vansenne, F., Sival, D. A., Herkert, J. C., Callewaert, B., Tan, W-H., & Balasubramanian, M. (2020). ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation, 41(5), 1042-1050. https://doi.org/10.1002/humu.24001
  5. 2019
  6. Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., ... van Gijn, M. E. (2019). Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. Human Mutation, 40(12), 2230-2238. https://doi.org/10.1002/humu.23896
  7. 2018
  8. Granadillo, J. L., Chung, W. K., Hecht, L., Corsten-Janssen, N., Wegner, D., Bijvank, S. W. A. N., Toler, T. L., Pineda-Alvarez, D. E., Douglas, G., Murphy, J. J., Shimony, J., & Shinawi, M. (2018). Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Human Mutation, 39(12), 1875-1884. https://doi.org/10.1002/humu.23627
  9. Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., ... Maugeri, A. (2018). Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Human Mutation, 39(9), 1173-1192. https://doi.org/10.1002/humu.23565
  10. Townend, G. S., Ehrhart, F., van Kranen, H. J., Wilkinson, M., Jacobsen, A., Roos, M., Willighagen, E. L., van Enckevort, D., Evelo, C. T., & Curfs, L. M. G. (2018). MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. Human Mutation, 39(7), 914-924. https://doi.org/10.1002/humu.23542
  11. 2017
  12. Wortmann, S. B., Timal, S., Venselaar, H., Wintjes, L. T., Kopajtich, R., Feichtinger, R. G., Onnekink, C., Muhlmeister, M., Brandt, U., Smeitink, J. A., Veltman, J. A., Sperl, W., Lefeber, D., Pruijn, G., Stojanovic, V., Freisinger, P., von Spronsen, F., Derks, T. G. J., Veenstra-Knol, H. E., ... Rodenburg, R. J. (2017). Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Human Mutation, 38(12), 1786-1795. https://doi.org/10.1002/humu.23340
  13. BorrĂ s, D. M., Vossen, R., Liem, M., Buermans, H. P. J., Dauwerse, H., van Heusden, D., Gansevoort, R. T., den Dunnen, J. T., Janssen, B., Peters, D. J. M., Losekoot, M., & Anvar, S. Y. (2017). Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing. Human Mutation, 38(7), 870-879. https://doi.org/10.1002/humu.23223
  14. Mendes, M. I., Smith, D. E. C., Pop, A., Lennertz, P., Ojeda, M. R. F., Kanhai, W. A., van Dooren, S. J. M., Anikster, Y., Baric, I., Boelen, C., Campistol, J., de Boer, L., Kariminejad, A., Kayserili, H., Roubertie, A., Verbruggen, K. T., Vianey-Saban, C., Williams, M., & Salomons, G. S. (2017). Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. Human Mutation, 38(5), 524-531. https://doi.org/10.1002/humu.23181
  15. 2016
  16. van der Klift, H. M., Mensenkamp, A. R., Drost, M., Bik, E. C., Vos, Y. J., Gille, H. J. J. P., Redeker, B. E. J. W., Tiersma, Y., Zonneveld, J. B. M., Garcia, E. G., Letteboer, T. G. W., Olderode-Berends, M. J. W., van Hest, L. P., van Os, T. A., Verhoef, S., Wagner, A., van Asperen, C. J., ten Broeke, S. W., Hes, F. J., ... Tops, C. M. J. (2016). Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. Human Mutation, 37(11), 1162-1179. https://doi.org/10.1002/humu.23052
  17. 2015
  18. Lancaster, O., Beck, T., Atlan, D., Swertz, M., Thangavelu, D., Veal, C., Dalgleish, R., & Brookes, A. J. (2015). Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts. Human Mutation, 36(10), 957-964. https://doi.org/10.1002/humu.22841
  19. Vetro, A., Iascone, M., Limongelli, I., Ameziane, N., Gana, S., Mina, E. D., Giussani, U., Ciccone, R., Forlino, A., Pezzoli, L., Rooimans, M. A., van Essen, T., Messa, J., Rizzuti, T., Bianchi, P., Dorsman, J., de Winter, J. P., Lalatta, F., & Zuffardi, O. (2015). Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. Human Mutation, 36(5), 562-568. https://doi.org/10.1002/humu.22784
  20. Lazzarini, E., Jongbloed, J. D. H., Pilichou, K., Thiene, G., Basso, C., Bikker, H., Charbon, B., Swertz, M., van Tintelen, J. P., & van der Zwaag, P. A. (2015). The ARVD/C Genetic Variants Database: 2014 Update. Human Mutation, 36(4), 403-410. https://doi.org/10.1002/humu.22765
  21. Vulto-van Silfhout, A. T., Nakagawa, T., Bahi-Buisson, N., Haas, S. A., Hu, H., Bienek, M., Vissers, L. E. L. M., Gilissen, C., Tzschach, A., Busche, A., Muesebeck, J., Rump, P., Mathijssen, I. B., Avela, K., Somer, M., Doagu, F., Philips, A. K., Rauch, A., Baumer, A., ... de Brouwer, A. P. M. (2015). Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation, 36(1), 106-117. https://doi.org/10.1002/humu.22718
  22. 2014
  23. Monteira Ferreira, A. M., Tuominen, I., van Dijk-Bos, K., Sanjabi, B., van der Sluis, T., van der Zee, A. G., Hollema, H., Zazula, M., Sijmons, R. H., Aaltonen, L. A., Westers, H., & Hofstra, R. M. W. (2014). High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors. Human Mutation, 35(12), 1442-1445. https://doi.org/10.1002/humu.22686
  24. Monteira Ferreira, A., Tuominen, I., Sousa, S., Gerbens, F., van Dijk-Bos, K., Osinga, J., Kooi, K. A., Sanjabi, B., Esendam, C., Oliveira, C., Terpstra, P., Hardonk, M., van der Sluis, T., Zazula, M., Stachura, J., van der Zee, A. G., Hollema, H., Sijmons, R. H., Aaltonen, L. A., ... Westers, H. (2014). New Target Genes in Endometrial Tumors Show a Role for the Estrogen-Receptor Pathway in Microsatellite-Unstable Cancers. Human Mutation, 35(12), 1514-1523. https://doi.org/10.1002/humu.22700
  25. Pecci, A., Klersy, C., Gresele, P., Lee, K. J. D., De Rocco, D., Bozzi, V., Russo, G., Heller, P. G., Loffredo, G., Ballmaier, M., Fabris, F., Beggiato, E., Kahr, W. H. A., Pujol-Moix, N., Platokouki, H., Van Geet, C., Noris, P., Yerram, P., Hermans, C., ... Savoia, A. (2014). MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. Human Mutation, 35(2), 236-247. https://doi.org/10.1002/humu.22476
  26. 2013
  27. Weiss, M. M., Van der Zwaag, B., Jongbloed, J. D. H., Vogel, M. J., Bruggenwirth, H. T., Deprez, R. H. L., Mook, O., Ruivenkamp, C. A. L., van Slegtenhorst, M. A., van den Wijngaard, A., Waisfisz, Q., Nelen, M. R., & van der Stoep, N. (2013). Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories. Human Mutation, 34(10), 1313-1321. https://doi.org/10.1002/humu.22368
  28. Sollie, A., Sijmons, R. H., Lindhout, D., van der Ploeg, A. T., Gozalbo, M. E. R., Smit, G. P. A., Verheijen, F., Waterham, H. R., van Weely, S., Wijburg, F. A., Wijburg, R., & Visser, G. (2013). A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing. Human Mutation, 34(7), 967-973. https://doi.org/10.1002/humu.22316
  29. Gonzaludo, N., Zheng, H-X., Wang, J., Chanock, S. J., Jin, L., Scherer, S., Wijmenga, C., Kwok, P-Y., & Brookes, A. J. (2013). HGV2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research. Human Mutation, 34(4), 657-660. https://doi.org/10.1002/humu.22270
  30. Tucci, A., Kara, E., Schossig, A., Wolf, N. I., Plagnol, V., Fawcett, K., Paisan-Ruiz, C., Moore, M., Hernandez, D., Musumeci, S., Tennison, M., Hennekam, R., Palmeri, S., Malandrini, A., Raskin, S., Donnai, D., Hennig, C., Tzschach, A., Hordijk, R., ... Houlden, H. (2013). KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation, 34(2), 296-300. https://doi.org/10.1002/humu.22241
  31. Thompson, B. A., Greenblatt, M. S., Vallee, M. P., Herkert, J. C., Tessereau, C., Young, E. L., Adzhubey, I. A., Li, B., Bell, R., Feng, B., Mooney, S. D., Radivojac, P., Sunyaev, S. R., Frebourg, T., Hofstra, R. M. W., Sijmons, R. H., Boucher, K., Thomas, A., Goldgar, D. E., ... Tavtigian, S. V. (2013). Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions. Human Mutation, 34(1), 255-265. https://doi.org/10.1002/humu.22214
  32. 2012
  33. Bergman, J. E. H., Janssen, N., van der Sloot, A. M., de Walle, H. E. K., Schoots, J., Rendtorff, N. D., Tranebjaerg, L., Hoefsloot, L. H., van Ravenswaaij-Arts, C. M. A., & Hofstra, R. M. W. (2012). A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Human Mutation, 33(8), 1251-1260. https://doi.org/10.1002/humu.22106
  34. Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjaerg, L., Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A., & Hoefsloot, L. H. (2012). Mutation update on the CHD7 gene involved in CHARGE syndrome. Human Mutation, 33(8), 1149-1160. https://doi.org/10.1002/humu.22086
  35. de Leeuw, N., Dijkhuizen, T., Hehir-Kwa, J. Y., Carter, N. P., Feuk, L., Firth, H. V., Kuhn, R. M., Ledbetter, D. H., Martin, C. L., van Ravenswaaij-Arts, C. M. A., Scherer, S. W., Shams, S., Van Vooren, S., Sijmons, R., Swertz, M., & Hastings, R. (2012). Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources. Human Mutation, 33(6), 930-940. https://doi.org/10.1002/humu.22049
  36. Vermeesch, J. R., Brady, P. D., Sanlaville, D., Kok, K., & Hastings, R. J. (2012). Genome-Wide Arrays: Quality Criteria and Platforms to be Used in Routine Diagnostics. Human Mutation, 33(6), 906-915. https://doi.org/10.1002/humu.22076
  37. Vetro, A., Bouman, K., Hastings, R., McMullan, D. J., Vermeesch, J. R., Miller, K., Sikkema-Raddatz, B., Ledbetter, D. H., Zuffardi, O., & van Ravenswaaij-Arts, C. M. A. (2012). The Introduction of Arrays in Prenatal Diagnosis: A Special Challenge. Human Mutation, 33(6), 923-929. https://doi.org/10.1002/humu.22050
  38. Adamusiak, T., Parkinson, H., Muilu, J., Roos, E., van der Velde, K. J., Thorisson, G. A., Byrne, M., Pang, C., Gollapudi, S., Ferretti, V., Hillege, H., Brookes, A. J., & Swertz, M. A. (2012). Observ-OM and Observ-TAB: Universal Syntax Solutions for the Integration, Search, and Exchange of Phenotype And Genotype Information. Human Mutation, 33(5), 867-873. https://doi.org/10.1002/humu.22070
  39. Drost, M., Zonneveld, J. B. M., van Hees, S., Rasmussen, L. J., Hofstra, R. M. W., & de Wind, N. (2012). A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. Human Mutation, 33(3), 488-494. https://doi.org/10.1002/humu.22000
  40. Verhagen, M. M. M., Last, J. I., Hogervorst, F. B. L., Smeets, D. F. C. M., Roeleveld, N., Verheijen, F., Catsman-Berrevoets, C. E., Wulffraat, N. M., Cobben, J. M., Hiel, J., Brunt, E. R., Peeters, E. A. J., Gomez Garcia, E. B., van der Knaap, M. S., Lincke, C. R., Laan, L. A. E. M., Tijssen, M. A. J., van Rijn, M. A., Majoor-Krakauer, D., ... Willemsen, M. A. A. P. (2012). Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study. Human Mutation, 33(3), 561-571. https://doi.org/10.1002/humu.22016
  41. 2011
  42. Holleboom, A. G., Kuivenhoven, J. A., Peelman, F., Schimmel, A. W., Peter, J., Defesche, J. C., Kastelein, J. J. P., Hovingh, G. K., Stroes, E. S., & Motazacker, M. M. (2011). High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations. Human Mutation, 32(11), 1290-1298. https://doi.org/10.1002/humu.21578
  43. van den Akker, P. C., Jonkman, M. F., Rengaw, T., Bruckner-Tuderman, L., Has, C., Bauer, J. W., Klausegger, A., Zambruno, G., Castiglia, D., Mellerio, J. E., McGrath, J. A., van Essen, A. J., Hofstra, R. M. W., & Swertz, M. A. (2011). The International Dystrophic Epidermolysis Bullosa Patient Registry: An Online Database of Dystrophic Epidermolysis Bullosa Patients and Their COL7A1 Mutations. Human Mutation, 32(10), 1100-1107. https://doi.org/10.1002/humu.21551
  44. Kohonen-Corish, M. R. J., Macrae, F., Genuardi, M., Aretz, S., Bapat, B., Bernstein, I. T., Burn, J., Cotton, R. G. H., den Dunnen, J. T., Frebourg, T., Greenblatt, M. S., Hofstra, R., Holinski-Feder, E., Lappalainen, I., Lindblom, A., Maglott, D., Moller, P., Morreau, H., Moeslein, G., ... Contributors InSiGHT-HVP Workshop (2011). Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Human Mutation, 32(4), 491-494. https://doi.org/10.1002/humu.21450
  45. Kuiper, R. P., Vissers, L. E. L. M., Venkatachalam, R., Bodmer, D., Hoenselaar, E., Goossens, M., Haufe, A., Kamping, E., Niessen, R. C., Hogervorst, F. B. L., Gille, J. J. P., Redeker, B., Tops, C. M. J., van Gijn, M. E., van den Ouweland, A. M. W., Rahner, N., Steinke, V., Kahl, P., Holinski-Feder, E., ... Ligtenberg, M. J. L. (2011). Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome. Human Mutation, 32(4), 407-414. https://doi.org/10.1002/humu.21446
  46. Paulussen, A. D. C., Stegmann, A. P. A., Blok, M. J., Tserpelis, D., Posma-Velter, C., Detisch, Y., Smeets, E. E. J. G. L., Wagemans, A., Schrander, J. J. P., van den Boogaard, M-J. H., van der Smagt, J., van Haeringen, A., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Mancini, G. M., Wessels, M. W., Hennekam, R. C. M., Vreeburg, M., Geraedts, J., ... Schrander-Stumpel, C. T. R. M. (2011). MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome. Human Mutation, 32(2), E2018-E2025. https://doi.org/10.1002/humu.21416
  47. Denayer, E., Chmara, M., Brems, H., Kievit, A. M., van Bever, Y., Van den Ouweland, A. M. W., Van Minkelen, R., de Goede-Bolder, A., Oostenbrink, R., Lakeman, P., Beert, E., Ishizaki, T., Mori, T., Keymolen, K., Van den Ende, J., Mangold, E., Peltonen, S., Brice, G., Rankin, J., ... Legius, E. (2011). Legius Syndrome in Fourteen Families. Human Mutation, 32(1), E1985-E1998. https://doi.org/10.1002/humu.21404
  48. Frank-Raue, K., Rybicki, L. A., Erlic, Z., Schweizer, H., Winter, A., Milos, I., Toledo, S. P. A., Toledo, R. A., Tavares, M. R., Alevizaki, M., Mian, C., Siggelkow, H., Huefner, M., Wohllk, N., Opocher, G., Dvorakova, S., Bendlova, B., Czetwertynska, M., Skasko, E., ... Int RET Exon 10 Consortium (2011). Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10. Human Mutation, 32(1), 51-58. https://doi.org/10.1002/humu.21385
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