Human Molecular Genetics

ISSNs: 0964-6906

Oxford University Press

Scopus rating (2021): CiteScore 9.5



  1. 2021
  2. A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures

    Martinelli, A., Rice, M. L., Talcott, J. B., Diaz, R., Smith, S., Raza, M. H., Snowling, M. J., Hulme, C., Stein, J., Hayiou-Thomas, M. E., Hawi, Z., Kent, L., Pitt, S. J., Newbury, D. F. & Paracchini, S., 9 Jun 2021

    Article in Human Molecular Genetics

  3. 2020
  4. Inherited variants at 3q13.33 and 3p24.1 are associated with risk of diffuse large B-cell lymphoma and implicate immune pathways

    Kleinstern, G., Yan, H., Hildebrandt, M. A. T., Vijai, J., Berndt, S. I., Ghesquières, H., McKay, J., Wang, S. S., Nieters, A., Ye, Y., Monnereau, A., Brooks-Wilson, A. R., Lan, Q., Melbye, M., Jackson, R. D., Teras, L. R., Purdue, M. P., Vajdic, C. M., Vermeulen, R. C. H., Giles, G. G. & 18 others, Cocco, P. L., Birmann, B. M., Kraft, P., Albanes, D., Zeleniuch-Jacquotte, A., Crouch, S., Zhang, Y., Sarangi, V., Asmann, Y., Offit, K., Salles, G., Wu, X., Smedby, K. E., Skibola, C. F., Slager, S. L., Rothman, N., Chanock, S. J. & Cerhan, J. R., 1 Jan 2020

    Article in Human Molecular Genetics

  5. 2018
  6. 2017
  7. C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

    Lee, Y-B., Baskaran, P., Gomez-Deza, J., Chen, H-J., Nishimura, A. L., Smith, B. N., Troakes, C., Adachi, Y., Stepto, A., Petrucelli, L., Gallo, J-M., Hirth, F., Rogelj, B., Guthrie, S. & Shaw, C. E., 15 Dec 2017

    Article in Human Molecular Genetics

  8. 2016
  9. Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

    Machiela, M. J., Lan, Q., Slager, S. L., Vermeulen, R. C. H., Teras, L. R., Camp, N. J., Cerhan, J. R., Spinelli, J. J., Wang, S. S., Nieters, A., Vijai, J., Yeager, M., Wang, Z., Ghesquières, H., McKay, J., Conde, L., de Bakker, P. I. W., Cox, D. G., Burdett, L., Monnereau, A. & 100 others, Flowers, C. R., De Roos, A. J., Brooks-Wilson, A. R., Giles, G. G., Melbye, M., Gu, J., Jackson, R. D., Kane, E., Purdue, M. P., Vajdic, C. M., Albanes, D., Kelly, R. S., Zucca, M., Bertrand, K. A., Zeleniuch-Jacquotte, A., Lawrence, C., Hutchinson, A., Zhi, D., Habermann, T. M., Link, B. K., Novak, A. J., Dogan, A., Asmann, Y. W., Liebow, M., Thompson, C. A., Ansell, S. M., Witzig, T. E., Tilly, H., Haioun, C., Molina, T. J., Hjalgrim, H., Glimelius, B., Adami, H-O., Roos, G., Bracci, P. M., Riby, J., Smith, M. T., Holly, E. A., Cozen, W., Hartge, P., Morton, L. M., Severson, R. K., Tinker, L. F., North, K. E., Becker, N., Benavente, Y., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., Staines, A., Lightfoot, T., Crouch, S., Roman, E., Diver, W. R., Offit, K., Zelenetz, A., Klein, R. J., Villano, D. J., Zheng, T., Zhang, Y., Holford, T. R., Turner, J., Southey, M. C., Clavel, J., Virtamo, J., Weinstein, S., Riboli, E., Vineis, P., Kaaks, R., Boeing, H., Tjønneland, A., Angelucci, E., Di Lollo, S., Rais, M., De Vivo, I., Giovannucci, E., Kraft, P., Huang, J., Ma, B., Ye, Y., Chiu, B. C. H., Liang, L., Park, J-H., Chung, C. C., Weisenburger, D. D., Fraumeni, J. F., Salles, G., Glenn, M., Cannon-Albright, L., Curtin, K., Wu, X., Smedby, K. E., de Sanjose, S., Skibola, C. F., Berndt, S. I., Birmann, B. M., Chanock, S. J., Rothman, N. & Smith, A. G., 15 Apr 2016

    Article in Human Molecular Genetics

  10. 2015
  11. 2014
  12. Abnormal visual gain control in a Parkinson's disease model

    Afsari, F., Christensen, K., Smith, G., Hentzer, M., Nippe, O., Elliott, C. & Wade, A., 1 Sep 2014

    Article in Human Molecular Genetics

  13. 2013
  14. Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

    Diaper, D. C., Adachi, Y., Sutcliffe, B., Humphrey, D. M., Elliott, C. J. H., Stepto, A., Ludlow, Z. N., Vanden Broeck, L., Callaerts, P., Dermaut, B., Al-Chalabi, A., Shaw, C. E., Robinson, I. M. & Hirth, F., Apr 2013

    Article in Human Molecular Genetics

  15. 2012
  16. Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb

    Kurapati, R., McKenna, C., Lindqvist, J., Williams, D., Simon, M., LeProust, E., Baker, J., Cheeseman, M., Carroll, N., Denny, P., Laval, S., Lochmueller, H., Ochala, J. & Blanco, G., 15 Apr 2012

    Article in Human Molecular Genetics

  17. 2010
  18. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

    Luebbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M. & Koerner, C., 15 Sep 2010

    Article in Human Molecular Genetics

  19. 2009
  20. Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse

    Mackenzie, F. E., Romero, R., Williams, D., Gillingwater, T., Hilton, H., Dick, J., Riddoch-Contreras, J., Wong, F., Ireson, L., Powles-Glover, N., Riley, G., Underhill, P., Hough, T., Arkell, R., Greensmith, L., Ribchester, R. R. & Blanco, G., 1 Oct 2009

    Article in Human Molecular Genetics

  21. 2007
  22. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

    Foulquier, F., Ungar, D., Reynders, E., Zeevaert, R., Mills, P., García-Silva, M. T., Briones, P., Winchester, B., Morelle, W., Krieger, M., Annaert, W. & Matthijs, G., Jan 2007

    Article in Human Molecular Genetics

  23. COG8 deficiency causes new congenital disorder of glycosylation type IIh

    Kranz, C., Ng, B. G., Sun, L., Sharma, V., Eklund, E. A., Miura, Y., Ungar, D., Lupashin, V., Winkel, R. D., Cipollo, J. F., Costello, C. E., Loh, E., Hong, W. & Freeze, H. H., 2007

    Article in Human Molecular Genetics

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