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

530 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: scott em. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Maffucci P, Bigio B, Rapaport F, Cobat A, Borghesi A, Lopez M, Patin E, Bolze A, Shang L, Bendavid M, Scott EM, Stenson PD, Cunningham-Rundles C, Cooper DN, Gleeson JG, Fellay J, Quintana-Murci L, Casanova JL, Abel L, Boisson B, Itan Y. Maffucci P, et al. Among authors: scott em. Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):950-959. doi: 10.1073/pnas.1808403116. Epub 2018 Dec 27. Proc Natl Acad Sci U S A. 2019. PMID: 30591557 Free PMC article.
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Novarino G, et al. Among authors: scott em. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. Science. 2012. PMID: 22956686 Free PMC article.
Automated closed-loop insulin delivery for the management of type 1 diabetes during pregnancy: the AiDAPT RCT.
Lee TTM, Collett C, Bergford S, Hartnell S, Scott EM, Lindsay RS, Hunt KF, McCance DR, Barnard-Kelly K, Rankin D, Lawton J, Reynolds RM, Flanagan E, Hammond M, Shepstone L, Wilinska ME, Sibayan J, Kollman C, Beck R, Hovorka R, Murphy HR. Lee TTM, et al. Among authors: scott em. Southampton (UK): National Institute for Health and Care Research; 2024 Apr. Southampton (UK): National Institute for Health and Care Research; 2024 Apr. PMID: 38718153 Free Books & Documents. Review.
CONCEPTT to care: the science of implementation in diabetes care.
Scott EM, Murphy HR, Kennedy K, Kar P. Scott EM, et al. Lancet Diabetes Endocrinol. 2024 Apr;12(4):222-225. doi: 10.1016/S2213-8587(24)00039-1. Epub 2024 Feb 26. Lancet Diabetes Endocrinol. 2024. PMID: 38423025 No abstract available.
530 results