Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1859 1
1873 1
1877 2
1878 3
1879 3
1881 1
1883 5
1887 1
1893 1
1904 1
1906 2
1918 1
1922 1
1925 1
1928 1
1930 1
1932 4
1936 2
1938 1
1941 3
1943 1
1945 3
1946 5
1947 19
1948 14
1949 16
1950 16
1951 22
1952 15
1953 21
1954 19
1955 16
1956 10
1957 12
1958 13
1959 17
1960 11
1961 22
1962 24
1963 20
1964 18
1965 17
1966 31
1967 31
1968 25
1969 37
1970 46
1971 30
1972 37
1973 20
1974 31
1975 30
1976 29
1977 32
1978 31
1979 25
1980 27
1981 25
1982 18
1983 23
1984 26
1985 21
1986 29
1987 16
1988 15
1989 25
1990 20
1991 25
1992 22
1993 21
1994 28
1995 31
1996 27
1997 24
1998 26
1999 25
2000 39
2001 43
2002 37
2003 36
2004 35
2005 37
2006 43
2007 57
2008 62
2009 58
2010 62
2011 71
2012 64
2013 59
2014 57
2015 68
2016 80
2017 78
2018 78
2019 90
2020 121
2021 136
2022 133
2023 117
2024 121
2025 104

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2,952 results

Results by year

Filters applied: . Clear all
Page 1
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.
Feature-based molecular networking in the GNPS analysis environment.
Nothias LF, Petras D, Schmid R, Dührkop K, Rainer J, Sarvepalli A, Protsyuk I, Ernst M, Tsugawa H, Fleischauer M, Aicheler F, Aksenov AA, Alka O, Allard PM, Barsch A, Cachet X, Caraballo-Rodriguez AM, Da Silva RR, Dang T, Garg N, Gauglitz JM, Gurevich A, Isaac G, Jarmusch AK, Kameník Z, Kang KB, Kessler N, Koester I, Korf A, Le Gouellec A, Ludwig M, Martin H C, McCall LI, McSayles J, Meyer SW, Mohimani H, Morsy M, Moyne O, Neumann S, Neuweger H, Nguyen NH, Nothias-Esposito M, Paolini J, Phelan VV, Pluskal T, Quinn RA, Rogers S, Shrestha B, Tripathi A, van der Hooft JJJ, Vargas F, Weldon KC, Witting M, Yang H, Zhang Z, Zubeil F, Kohlbacher O, Böcker S, Alexandrov T, Bandeira N, Wang M, Dorrestein PC. Nothias LF, et al. Among authors: martin h c. Nat Methods. 2020 Sep;17(9):905-908. doi: 10.1038/s41592-020-0933-6. Epub 2020 Aug 24. Nat Methods. 2020. PMID: 32839597 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.
[Calciphylaxis].
Brandenburg VM, Martin H, Sohn CM, Ketteler M. Brandenburg VM, et al. Among authors: martin h. Dtsch Med Wochenschr. 2015 Mar;140(5):347-51. doi: 10.1055/s-0041-100834. Epub 2015 Mar 3. Dtsch Med Wochenschr. 2015. PMID: 25734678 Review. German.
Autosomal Recessive Stickler Syndrome.
Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP. Nixon TRW, et al. Among authors: martin h. Genes (Basel). 2022 Jun 24;13(7):1135. doi: 10.3390/genes13071135. Genes (Basel). 2022. PMID: 35885918 Free PMC article. Review.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Lee WJ, Hsiung CA, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B… See abstract for full author list ➔ Ramdas S, et al. Among authors: martin hc. Am J Hum Genet. 2022 Aug 4;109(8):1366-1387. doi: 10.1016/j.ajhg.2022.06.012. Am J Hum Genet. 2022. PMID: 35931049 Free PMC article.
Polygenic and developmental profiles of autism differ by age at diagnosis.
Zhang X, Grove J, Gu Y, Buus CK, Nielsen LK, Neufeld SAS, Koko M, Malawsky DS, Wade EM, Verhoef E, Gui A, Hegemann L; APEX Consortium; iPSYCH Autism Consortium; PGC-PTSD Consortium; Geschwind DH, Wray NR, Havdahl A, Ronald A, St Pourcain B, Robinson EB, Bourgeron T, Baron-Cohen S, Børglum AD, Martin HC, Warrier V. Zhang X, et al. Among authors: martin hc. Nature. 2025 Oct 1. doi: 10.1038/s41586-025-09542-6. Online ahead of print. Nature. 2025. PMID: 41034588
2,952 results