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Examining the role of common variants in rare neurodevelopmental conditions.
Huang QQ, Wigdor EM, Malawsky DS, Campbell P, Samocha KE, Chundru VK, Danecek P, Lindsay S, Marchant T, Koko M, Amanat S, Bonfanti D, Sheridan E, Radford EJ, Barrett JC, Wright CF, Firth HV, Warrier V, Strudwick Young A, Hurles ME, Martin HC. Huang QQ, et al. Among authors: martin hc. Nature. 2024 Dec;636(8042):404-411. doi: 10.1038/s41586-024-08217-y. Epub 2024 Nov 20. Nature. 2024. PMID: 39567701 Free PMC article.
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC. Niemi MEK, et al. Among authors: martin hc, martin ng. Nature. 2018 Oct;562(7726):268-271. doi: 10.1038/s41586-018-0566-4. Epub 2018 Sep 26. Nature. 2018. PMID: 30258228 Free PMC article.
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Chundru VK, Zhang Z, Walter K, Lindsay SJ, Danecek P, Eberhardt RY, Gardner EJ, Malawsky DS, Wigdor EM, Torene R, Retterer K, Wright CF, Ólafsdóttir H, Guillen Sacoto MJ, Ayaz A, Akbeyaz IH, Türkdoğan D, Al Balushi AI, Bertoli-Avella A, Bauer P, Szenker-Ravi E, Reversade B, McWalter K, Sheridan E, Firth HV, Hurles ME, Samocha KE, Ustach VD, Martin HC. Chundru VK, et al. Among authors: martin hc. Nat Genet. 2024 Oct;56(10):2046-2053. doi: 10.1038/s41588-024-01910-8. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313616 Free PMC article.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Among authors: martin hc. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Fine-scale population structure and demographic history of British Pakistanis.
Arciero E, Dogra SA, Malawsky DS, Mezzavilla M, Tsismentzoglou T, Huang QQ, Hunt KA, Mason D, Sharif SM, van Heel DA, Sheridan E, Wright J, Small N, Carmi S, Iles MM, Martin HC. Arciero E, et al. Among authors: martin hc. Nat Commun. 2021 Dec 10;12(1):7189. doi: 10.1038/s41467-021-27394-2. Nat Commun. 2021. PMID: 34893604 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. Among authors: martin hc. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes.
Warrier V, Stauffer EM, Huang QQ, Wigdor EM, Slob EAW, Seidlitz J, Ronan L, Valk SL, Mallard TT, Grotzinger AD, Romero-Garcia R, Baron-Cohen S, Geschwind DH, Lancaster MA, Murray GK, Gandal MJ, Alexander-Bloch A, Won H, Martin HC, Bullmore ET, Bethlehem RAI. Warrier V, et al. Among authors: martin hc. Nat Genet. 2023 Sep;55(9):1483-1493. doi: 10.1038/s41588-023-01475-y. Epub 2023 Aug 17. Nat Genet. 2023. PMID: 37592024 Free PMC article.
132 results