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

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Lord J, et al. Among authors: tapon d. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712880 Free PMC article.
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.
Hill M, Ellard S, Fisher J, Fulop N, Knight M, Kroese M, Ledger J, Leeson-Beevers K, McEwan A, McMullan D, Mellis R, Morris S, Parker M, Tapon D, Baple E, Blackburn L, Choudry A, Lafarge C, McInnes-Dean H, Peter M, Ramakrishnan R, Roberts L, Searle B, Smith E, Walton H, Wynn SL, Han Wu W, Chitty LS. Hill M, et al. Among authors: tapon d. NIHR Open Res. 2022 Jul 18;2:10. doi: 10.3310/nihropenres.13247.2. eCollection 2022. NIHR Open Res. 2022. PMID: 35935673 Free PMC article.
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
McInnes-Dean H, Mellis R, Daniel M, Walton H, Baple EL, Bertoli M, Fisher J, Gajewska-Knapik K, Holder-Espinasse M, Lafarge C, Leeson-Beevers K, McEwan A, Pandya P, Parker M, Peet S, Roberts L, Sankaran S, Smith A, Tapon D, Wu WH, Wynn SL, Chitty LS, Hill M, Peter M. McInnes-Dean H, et al. Among authors: tapon d. Prenat Diagn. 2024 Apr;44(4):465-479. doi: 10.1002/pd.6537. Epub 2024 Mar 5. Prenat Diagn. 2024. PMID: 38441167
The male phenotype in osteopathia striata congenita with cranial sclerosis.
Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP. Holman SK, et al. Among authors: tapon d. Am J Med Genet A. 2011 Oct;155A(10):2397-408. doi: 10.1002/ajmg.a.34178. Am J Med Genet A. 2011. PMID: 22043478
11 results