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
1989 1
1991 3
1993 4
1994 5
1995 1
1996 6
1997 2
1998 7
1999 5
2001 4
2002 2
2003 2
2004 3
2005 3
2006 8
2007 7
2008 14
2009 5
2010 7
2011 14
2012 17
2013 13
2014 26
2015 26
2016 21
2017 15
2018 13
2019 16
2020 16
2021 10
2022 16
2023 10
2024 17
2025 14
2026 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

291 results

Results by year

Filters applied: . Clear all
Page 1
Spina bifida.
Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN, Shaw GM. Copp AJ, et al. Among authors: chitty ls. Nat Rev Dis Primers. 2015 Apr 30;1:15007. doi: 10.1038/nrdp.2015.7. Nat Rev Dis Primers. 2015. PMID: 27189655 Free PMC article. Review.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: chitty ls. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free PMC article.
Perinatal renal disease.
Chitty LS, Woolf AS. Chitty LS, et al. Semin Fetal Neonatal Med. 2008 Jun;13(3):117. doi: 10.1016/j.siny.2007.10.004. Epub 2007 Dec 21. Semin Fetal Neonatal Med. 2008. PMID: 18160356 No abstract available.
Dysplastic kidneys.
Winyard P, Chitty LS. Winyard P, et al. Among authors: chitty ls. Semin Fetal Neonatal Med. 2008 Jun;13(3):142-51. doi: 10.1016/j.siny.2007.10.009. Epub 2007 Dec 11. Semin Fetal Neonatal Med. 2008. PMID: 18065301 Review.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F. Blayney GV, et al. Among authors: chitty ls. Prenat Diagn. 2024 Apr;44(4):422-431. doi: 10.1002/pd.6466. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054560 Free PMC article.
291 results