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

75 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: clouston p. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH. Shanks ME, et al. Among authors: clouston p. Eur J Hum Genet. 2013 Mar;21(3):274-80. doi: 10.1038/ejhg.2012.172. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968130 Free PMC article.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Among authors: clouston p. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN; Deciphering Developmental Disorders study; CAUSES study; Williams J, Clouston P, Hagman J, Németh AH. Sleven H, et al. Among authors: clouston p. Am J Hum Genet. 2017 Jan 5;100(1):138-150. doi: 10.1016/j.ajhg.2016.11.020. Epub 2016 Dec 23. Am J Hum Genet. 2017. PMID: 28017370 Free PMC article.
Novel non-contiguous exon duplication in choroideremia.
Edwards TL, Williams J, Patrício MI, Simunovic MP, Shanks M, Clouston P, MacLaren RE. Edwards TL, et al. Among authors: clouston p. Clin Genet. 2018 Jan;93(1):144-148. doi: 10.1111/cge.13021. Epub 2017 Apr 19. Clin Genet. 2018. PMID: 28369842
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: clouston p. Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005. Am J Hum Genet. 2017. PMID: 28886343 Free PMC article.
75 results