Items where authors include "Martin, H.C."

Article

Lord, J. orcid.org/0000-0002-0539-9343, Oquendo, C.J., Wai, H.A. et al. (11 more authors) (2024) Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants. Genetics in Medicine, 26 (12). 101249. ISSN 1098-3600

Ellingford, J.M., Ahn, J.W., Bagnall, R.D. et al. (24 more authors) (2022) Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine, 14 (1). 73. ISSN 1756-994X

Kousathanas, A. orcid.org/0000-0001-6265-6521, Pairo-Castineira, E. orcid.org/0000-0002-2423-3090, Rawlik, K. orcid.org/0000-0002-0010-370X et al. (2377 more authors) (2022) Whole-genome sequencing reveals host factors underlying critical COVID-19. Nature, 607. pp. 97-103. ISSN 0028-0836

Martin, H.C., Gardner, E.J., Samocha, K.E. et al. (13 more authors) (2021) The contribution of X-linked coding variation to severe developmental disorders. Nature Communications, 12. 627. ISSN 2041-1723

Kaplanis, J., Samocha, K.E., Wiel, L. et al. (30 more authors) (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586 (7831). pp. 757-762. ISSN 0028-0836

Martin, H.C., Jones, W.D., McIntyre, R. et al. (37 more authors) (2018) Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362 (6419). pp. 1161-1164. ISSN 0036-8075