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 NCBI Filters

Results by year

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

Year Number of Results
1996 1
2002 8
2003 5
2004 5
2005 7
2006 8
2007 8
2008 13
2009 14
2010 22
2011 18
2012 17
2013 10
2014 18
2015 15
2016 12
2017 12
2018 14
2019 19
2020 21
2021 30
2022 23
2023 27
2024 8

Text availability

Article attribute

Article type

Publication date

Search Results

291 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. 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.
A Scoping Review of the Relationship between Running and Mental Health.
Oswald F, Campbell J, Williamson C, Richards J, Kelly P. Oswald F, et al. Among authors: campbell j. Int J Environ Res Public Health. 2020 Nov 1;17(21):8059. doi: 10.3390/ijerph17218059. Int J Environ Res Public Health. 2020. PMID: 33139666 Free PMC article. Review.
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. 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.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Interventions to address global inequity in diabetes: international progress.
Walker AF, Graham S, Maple-Brown L, Egede LE, Campbell JA, Walker RJ, Wade AN, Mbanya JC, Long JA, Yajnik C, Thomas N, Ebekozien O, Odugbesan O, DiMeglio LA, Agarwal S. Walker AF, et al. Among authors: campbell ja. Lancet. 2023 Jul 15;402(10397):250-264. doi: 10.1016/S0140-6736(23)00914-5. Epub 2023 Jun 22. Lancet. 2023. PMID: 37356448 Free PMC article. Review.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: campbell j. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Genetics for paediatric radiologists.
Schirwani S, Campbell J. Schirwani S, et al. Among authors: campbell j. Pediatr Radiol. 2020 Nov;50(12):1680-1690. doi: 10.1007/s00247-020-04837-4. Epub 2020 Nov 2. Pediatr Radiol. 2020. PMID: 33135138 Review.
The role of structural racism and geographical inequity in diabetes outcomes.
Agarwal S, Wade AN, Mbanya JC, Yajnik C, Thomas N, Egede LE, Campbell JA, Walker RJ, Maple-Brown L, Graham S. Agarwal S, et al. Among authors: campbell ja. Lancet. 2023 Jul 15;402(10397):235-249. doi: 10.1016/S0140-6736(23)00909-1. Epub 2023 Jun 22. Lancet. 2023. PMID: 37356447 Review.
291 results