King's College London

Research portal

Human Mutation, 1059-7794

Journal

  1. Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

    Vahidnezhad, H., Youssefian, L., Sotoudeh, S., Liu, L., Guy, A., Lovell, P. A., Kariminejad, A., Zeinali, S., McGrath, J. A. & Uitto, J., 1 May 2020, In : Human Mutation. 41, 5, p. 906-912 7 p.

    Research output: Contribution to journalArticle

  2. Next‐generation sequencing for the diagnosis of MYH9 ‐RD: Predicting pathogenic variants

    Bury, L., Megy, K., Stephens, J. C., Grassi, L., Greene, D., Gleadall, N., Althaus, K., Allsup, D., Bariana, T. K., Bonduel, M., Butta, N. V., Collins, P., Curry, N., Deevi, S. V. V., Downes, K., Duarte, D., Elliott, K., Falcinelli, E., Furie, B., Keeling, D. & 18 others, Lambert, M. P., Linger, R., Mangles, S., Mapeta, R., Millar, C. M., Penkett, C., Perry, D. J., Stirrups, K. E., Turro, E., Westbury, S. K., Wu, J., Bioresource, N., Gomez, K., Freson, K., Ouwehand, W. H., Gresele, P., Simeoni, I. & Williamson, C., 1 Jan 2020, In : Human Mutation. 41, 1, p. 277-290 14 p.

    Research output: Contribution to journalArticle

  3. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

    Bachmann, C., Noreen, F., Voermans, N. C., Schär, P. L., Vissing, J., Fock, J. M., Bulk, S., Kusters, B., Moore, S. A., Beggs, A. H., Mathews, K. D., Meyer, M., Genetti, C. A., Meola, G., Cardani, R., Mathews, E., Jungbluth, H., Muntoni, F., Zorzato, F. & Treves, S., 1 Jul 2019, In : Human Mutation. 40, 7, p. 962-974 13 p.

    Research output: Contribution to journalArticle

  4. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

    Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'Grady, G., Rendu, J., Malfatti, E., Amthor, H., Servais, L., Urtizberea, J. A., Neto, O. A., Zanoteli, E., Donkervoort, S., Taylor, J., Dixon, J., Poke, G., Foley, A. R., Holmes, C., Williams, G., Holder, M. & 15 others, Yum, S., Medne, L., Quijano-Roy, S., Romero, N. B., Fauré, J., Feng, L., Bastaki, L., Davis, M. R., Phadke, R., Sewry, C. A., Bönnemann, C. G., Jungbluth, H., Bachmann, C., Treves, S. & Muntoni, F., Dec 2018, In : Human Mutation. 39, 12, p. 1980-1994 15 p.

    Research output: Contribution to journalArticle

  5. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

    Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Touati, A., Sotoudeh, S., Jazayeri, A., Guy, A., Lovell, P. A., Liu, L., Kariminejad, A., McGrath, J. A., Zeinali, S. & Uitto, J., Oct 2018, In : Human Mutation. 39, 10, p. 1349-1354 6 p.

    Research output: Contribution to journalArticle

  6. Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

    Meester, J. A. N., Sukalo, M., Schröder, K. C., Schanze, D., Baynam, G., Borck, G., Bramswig, N. C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D. S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C., Salih, M. A. & 16 others, Savarirayan, R., Scurr, I., Splitt, M., Thompson, E., Titheradge, H., Travers, C. P., Van Maldergem, L., Whiteford, M., Wieczorek, D., Vandeweyer, G., Trembath, R., Van Laer, L., Loeys, B. L., Zenker, M., Southgate, L. & Wuyts, W., 1 Sep 2018, In : Human Mutation. 39, 9, p. 1246-1261 16 p.

    Research output: Contribution to journalArticle

  7. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    EMBRACE, May 2018, In : Human Mutation. 39, 5, p. 593-620 28 p.

    Research output: Contribution to journalArticle

  8. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

    kConFab/AOCS Investigators, May 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

    Research output: Contribution to journalArticle

  9. Haplotype reference consortium panel: Practical implications of imputations with large reference panels

    Iglesias, A. I., van der Lee, S. J., Bonnemaijer, P. W. M., Höhn, R., Nag, A., Gharahkhani, P., Khawaja, A. P., Broer, L., (IGGC), I. G. G. C., Foster, P. J., Hammond, C. J., Hysi, P. G., van Leeuwen, E. M., MacGregor, S., Mackey, D. A., Mazur, J., Nickels, S., Uitterlinden, A. G., Klaver, C. C. W., Amin, N. & 1 others, van Duijn, C. M., 9 Jun 2017, In : Human Mutation.

    Research output: Contribution to journalArticle

  10. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

    Harlalka, G. V., Mcentagart, M. E., Gupta, N., Skrzypiec, A. E., Mucha, M. W., Chioza, B. A., Simpson, M. A., Sreekantan-Nair, A., Pereira, A., Günther, S., Jahic, A., Modarres, H., Moore-Barton, H., Trembath, R. C., Kabra, M., Baple, E. L., Thakur, S., Patton, M. A., Beetz, C., Pawlak, R. & 1 others, Crosby, A. H., 30 Aug 2016, In : Human Mutation.

    Research output: Contribution to journalArticle

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

    Spickett, C., Hysi, P., Hammond, C. J., Prescott, A., Fincham, G. S., Poulson, A. V., Mcninch, A. M., Richards, A. J. & Snead, M. P., 21 Aug 2016, In : Human Mutation.

    Research output: Contribution to journalArticle

  12. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Machado, R. D., Southgate, L., Eichstaedt, C. A., Aldred, M. A., Austin, E. D., Best, D. H., Chung, W. K., Benjamin, N., Elliott, C. G., Eyries, M., Fischer, C., Gräf, S., Hinderhofer, K., Humbert, M., Keiles, S. B., Loyd, J. E., Morrell, N. W., Newman, J. H., Soubrier, F., Trembath, R. C. & 2 others, Viales, R. R. & Grünig, E., Dec 2015, In : Human Mutation. 36, 12, p. 1113-27 15 p.

    Research output: Contribution to journalArticle

  13. Microdeletions of ELP4 are Associated with Language Impairment, Autism Spectrum Disorder and Mental Retardation

    Addis, L., Ahn, J. W., Dobson, R. J. B., Dixit, A., Ogilvie, C. M., Pinto, D., Vaags, A. K., Coon, H., Chaste, P., Wilson, S., Parr, J. R., Andrieux, J., Lenne, B., Tumer, Z., Leuzzi, V., Aubell, K., Koillinen, H., Curran, S. R., Marshall, C. R., Scherer, S. W. & 3 others, Strug, L. J., Collier, D. A. & Pal, D. K., 1 Sep 2015, In : Human Mutation. 36, 9

    Research output: Contribution to journalArticle

  14. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies

    Sukalo, M., Tilsen, F., Kayserili, H., Müller, D., Tüysüz, B., Ruddy, D. M., Wakeling, E., Ørstavik, K. H., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L. & Zenker, M., Jun 2015, In : Human Mutation. 36, 6, p. 593-8 6 p.

    Research output: Contribution to journalArticle

  15. Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay

    Grey, W., Izatt, L., Sahraoui, W., Ng, Y-M., Ogilvie, C., Hulse, A., Tse, E., Holic, R. & Yu, V., Jun 2013, In : Human Mutation. 34, 6, p. 864-8 5 p.

    Research output: Contribution to journalArticle

  16. 11q13 is a susceptibility locus for hormone receptor positive breast cancer

    Lambrechts, D., Truong, T., Justenhoven, C., Humphreys, M. K., Wang, J., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Cornelissen, S., van Hien, R., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Milne, R. L., Zamora, M. P., Pérez, J. I. A. & 131 others, Benítez, J., Hamann, U., Ko, Y. D., Brüning, T., Chang-Claude, J., Eilber, U., Hein, R., Nickels, S., Flesch-Janys, D., Wang-Gohrke, S., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Chenevix-Trench, G., Beesley, J., Chen, X., Investigators, KC., Menegaux, F., Cordina-Duverger, E., Shen, C. Y., Yu, J. C., Wu, P. E., Hou, M. F., Andrulis, I. L., Selander, T., Glendon, G., Mulligan, A. M., Anton-Culver, H., Ziogas, A., Muir, K. R., Lophatananon, A., Rattanamongkongul, S., Puttawibul, P., Jones, M., Orr, N., Ashworth, A., Swerdlow, A., Severi, G., Baglietto, L., Giles, G., Southey, M., Marmé, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Yesilyurt, B. T., Neven, P., Paridaens, R., Wildiers, H., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Meindl, A., Schott, S., Bartram, C. R., Schmutzler, R. K., Cox, A., Brock, I. W., Elliott, G., Cross, S. S., Fasching, P. A., Schulz-Wendtland, R., Ekici, A. B., Beckmann, M. W., Fletcher, O., Johnson, N., Silva, I. D. S., Peto, J., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N. V., Antonenkova, N. N., Rogov, Y. I., Karstens, J. H., Khusnutdinova, E., Bermisheva, M., Prokofieva, D., Gancev, S., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Nordestgaard, B. G., Bojesen, S. E., Lanng, C., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Radice, P., Peterlongo, P., Manoukian, S., Bernard, L., Couch, F. J., Olson, J. E., Wang, X., Fredericksen, Z., Alnæs, G. G., Kristensen, V., Børresen-Dale, A. L., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C. M., Hooning, M. J., García-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Hall, P., Liu, J., Czene, K., Kang, D., Yoo, K. Y., Noh, D. Y., Lindblom, A., Margolin, S., Dunning, A. M., Pharoah, P. D. P., Easton, D. F., Guénel, P. & Brauch, H., 1 Jul 2012, In : Human Mutation. 33, 7, p. 1123-1132 10 p.

    Research output: Contribution to journalArticle

  17. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

    Dias, C., Sincan, M., Cherukuri, P. F., Rupps, R., Huang, Y., Briemberg, H., Selby, K., Mullikin, J. C., Markello, T. C., Adams, D. R., Gahl, W. A. & Boerkoel, C. F., 1 Apr 2012, In : Human Mutation. 33, 4, p. 614-626 13 p.

    Research output: Contribution to journalArticle

  18. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    SWE-BRCA, Apr 2012, In : Human Mutation. 33, 4, p. 690-702 13 p.

    Research output: Contribution to journalArticle

  19. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

    Callewaert, B., Renard, M., Hucthagowder, V., Albrecht, B., Hausser, I., Blair, E., Dias, C., Albino, A., Wachi, H., Sato, F., Mecham, R. P., Loeys, B., Coucke, P. J., De Paepe, A. & Urban, Z., 1 Apr 2011, In : Human Mutation. 32, 4, p. 445-455 11 p.

    Research output: Contribution to journalArticle

  20. Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome

    Oliveira, J., Dias, C., Redeker, E., Costa, E., Silva, J., Reis Lima, M., Den Dunnen, J. T. & Santos, R., 1 Nov 2010, In : Human Mutation. 31, 11, p. 1216-1222 7 p.

    Research output: Contribution to journalArticle

  21. Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients

    van der Klift, H. M., Tops, C. M. J., Bik, E. C., Boogaard, M. W., Borgstein, A-M., Hansson, K. B. M., Ausems, M. G. E. M., Gomez Garcia, E., Green, A., Hes, F. J., Izatt, L., van Hest, L. P., Alonso, A. M., Vriends, A. H. J. T., Wagner, A., van Zelst-Stams, W. A. G., Vasen, H. F. A., Morreau, H., Devilee, P. & Wijnen, J. T., May 2010, In : Human Mutation. 31, 5, p. 578-87 10 p.

    Research output: Contribution to journalArticle

  22. Tumor Risks and Genotype-Phenotype-Proteotype Analysis in 358 Patients With Germline Mutations in SDHB and SDHD

    Ricketts, C. J., Forman, J. R., Rattenberry, E., Bradshaw, N., Lalloo, F., Izatt, L., Cole, T. R., Armstrong, R., Kumar, V. K. A., Morrison, P. J., Atkinson, A. B., Douglas, F., Ball, S. G., Cook, J., Srirangalingam, U., Killick, P., Kirby, G., Aylwin, S., Woodward, E. R., Evans, D. G. R. & 7 others, Hodgson, S. V., Murday, V., Chew, S. L., Connell, J. M., Blundell, T. L., Macdonald, F. & Maher, E. R., Jan 2010, In : Human Mutation. 31, 1, p. 41-51 11 p.

    Research output: Contribution to journalArticle

  23. Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

    Bär, H., Goudeau, B., Wälde, S., Casteras-Simon, M., Mücke, N., Shatunov, A., Goldberg, Y. P., Clarke, C., Holton, J. L., Eymard, B., Katus, H. A., Fardeau, M., Goldfarb, L., Vicart, P. & Herrmann, H., Apr 2007, In : Human Mutation. 28, 4, p. 374-86 13 p.

    Research output: Contribution to journalArticle

  24. Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma

    Sánchez-Sánchez, F., Ramírez-Castillejo, C., Weekes, D. B., Beneyto, M., Prieto, F., Nájera, C. & Mittnacht, S., Feb 2007, In : Human Mutation. 28, 2, p. 159-167 9 p.

    Research output: Contribution to journalArticle

  25. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

    Botta, E., Offman, J., Nardo, T., Ricotti, R., Zambruno, G., Sansone, D., Balestri, P., Raams, A., Kleijer, W. J., Jaspers, N. G. J., Sarasin, A., Lehmann, A. R. & Stefanini, M., Jan 2007, In : Human Mutation. 28, 1, p. 92-6 5 p.

    Research output: Contribution to journalArticle

View graph of relations

© 2018 King's College London | Strand | London WC2R 2LS | England | United Kingdom | Tel +44 (0)20 7836 5454