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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

32,254 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T. Bauwens M, et al. Among authors: lin s. Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272031 Free PMC article.
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Li L, et al. Among authors: lin s. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30157172 Free PMC article.
Delineating the expanding phenotype associated with SCAPER gene mutation.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium. Fasham J, et al. Among authors: lin s. Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13. Am J Med Genet A. 2019. PMID: 31192531 Free PMC article. No abstract available.
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S, Vermeirsch S, Pontikos N, Martin-Gutierrez MP, Daich Varela M, Malka S, Schiff E, Knight H, Wright G, Jurkute N, Simcoe MJ, Yu-Wai-Man P, Moosajee M, Michaelides M, Mahroo OA, Webster AR, Arno G. Lin S, et al. Ophthalmol Retina. 2024 Jul;8(7):699-709. doi: 10.1016/j.oret.2024.01.012. Epub 2024 Jan 12. Ophthalmol Retina. 2024. PMID: 38219857 Free article.
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.
Chandrasekhar S, Lin S, Jurkute N, Oprych K, Estramiana Elorrieta L, Schiff E, Malka S, Wright G, Michaelides M, Mahroo OA, Webster AR, Arno G. Chandrasekhar S, et al. Among authors: lin s. Cells. 2024 Jul 26;13(15):1261. doi: 10.3390/cells13151261. Cells. 2024. PMID: 39120292 Free PMC article.
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. Malka S, et al. Among authors: lin s. Am J Hum Genet. 2024 Sep 5;111(9):2012-2030. doi: 10.1016/j.ajhg.2024.07.020. Epub 2024 Aug 26. Am J Hum Genet. 2024. PMID: 39191256 Free PMC article.
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.
Iglesias-Romero AB, Kaminska K, Quinodoz M, Folcher M, Lin S, Arno G, Calado J, Webster AR, Moulin A, Sousa AB, Coutinho-Santos L, Santos C, Rivolta C. Iglesias-Romero AB, et al. Among authors: lin s. Am J Hum Genet. 2024 Oct 3;111(10):2299-2306. doi: 10.1016/j.ajhg.2024.08.005. Epub 2024 Sep 2. Am J Hum Genet. 2024. PMID: 39226897 Free PMC article.
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.
Ullah E, Lin S, Lu J, Bender C, Webster AR, Malka S, Madhusudhan S, Rees E, Williams D, Agather AR, Cukras CA, Hufnagel RB, Chen R, Huryn LA, Arno G, Guan B. Ullah E, et al. Among authors: lin s. JAMA Ophthalmol. 2024 Nov 1;142(11):1081-1086. doi: 10.1001/jamaophthalmol.2024.3836. JAMA Ophthalmol. 2024. PMID: 39325468
32,254 results
You have reached the last available page of results. Please see the User Guide for more information.