1107 related articles for article (PubMed ID: 28041643)
1. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ; Arno G; Erwood M; Stephens J; Sanchis-Juan A; Hull S; Megy K; Grozeva D; Dewhurst E; Malka S; Plagnol V; Penkett C; Stirrups K; Rizzo R; Wright G; Josifova D; Bitner-Glindzicz M; Scott RH; Clement E; Allen L; Armstrong R; Brady AF; Carmichael J; Chitre M; Henderson RHH; Hurst J; MacLaren RE; Murphy E; Paterson J; Rosser E; Thompson DA; Wakeling E; Ouwehand WH; Michaelides M; Moore AT; ; Webster AR; Raymond FL
Am J Hum Genet; 2017 Jan; 100(1):75-90. PubMed ID: 28041643
[TBL] [Abstract][Full Text] [Related]
2. Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.
Skorczyk-Werner A; Wawrocka A; Kochalska N; Krawczynski MR
Orphanet J Rare Dis; 2018 Dec; 13(1):221. PubMed ID: 30541579
[TBL] [Abstract][Full Text] [Related]
3. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
Li S; Guan L; Fang S; Jiang H; Xiao X; Yang J; Wang P; Yin Y; Guo X; Wang J; Zhang J; Zhang Q
Int J Mol Med; 2014 Aug; 34(2):573-7. PubMed ID: 24913019
[TBL] [Abstract][Full Text] [Related]
4. Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data.
Oh R; Woo SJ; Joo K
Graefes Arch Clin Exp Ophthalmol; 2024 Apr; 262(4):1351-1359. PubMed ID: 37947821
[TBL] [Abstract][Full Text] [Related]
5. Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.
Dan H; Li T; Lei X; Huang X; Xing Y; Shen Y
Biosci Rep; 2020 May; 40(5):. PubMed ID: 32364220
[TBL] [Abstract][Full Text] [Related]
6. Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
Bae K; Song JS; Lee C; Kim NKD; Park WY; Kim BJ; Ki CS; Kim SJ
Ann Lab Med; 2017 Sep; 37(5):438-442. PubMed ID: 28643494
[TBL] [Abstract][Full Text] [Related]
7. Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
Zhang AY; Mysore N; Vali H; Koenekoop J; Cao SN; Li S; Ren H; Keser V; Lopez-Solache I; Siddiqui SN; Khan A; Mui J; Sears K; Dixon J; Schwartzentruber J; Majewski J; Braverman N; Koenekoop RK
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8158-65. PubMed ID: 26720468
[TBL] [Abstract][Full Text] [Related]
8. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Reuter MS; Walker S; Thiruvahindrapuram B; Whitney J; Cohn I; Sondheimer N; Yuen RKC; Trost B; Paton TA; Pereira SL; Herbrick JA; Wintle RF; Merico D; Howe J; MacDonald JR; Lu C; Nalpathamkalam T; Sung WWL; Wang Z; Patel RV; Pellecchia G; Wei J; Strug LJ; Bell S; Kellam B; Mahtani MM; Bassett AS; Bombard Y; Weksberg R; Shuman C; Cohn RD; Stavropoulos DJ; Bowdin S; Hildebrandt MR; Wei W; Romm A; Pasceri P; Ellis J; Ray P; Meyn MS; Monfared N; Hosseini SM; Joseph-George AM; Keeley FW; Cook RA; Fiume M; Lee HC; Marshall CR; Davies J; Hazell A; Buchanan JA; Szego MJ; Scherer SW
CMAJ; 2018 Feb; 190(5):E126-E136. PubMed ID: 29431110
[TBL] [Abstract][Full Text] [Related]
9. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
Hussain HMJ; Wang M; Huang A; Schmidt R; Qian X; Yang P; Marra M; Li Y; Pennesi ME; Chen R
Genes (Basel); 2023 Feb; 14(2):. PubMed ID: 36833373
[TBL] [Abstract][Full Text] [Related]
10. Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH; Lemire G; Berger E; Zaki MS; Wissmann M; Win W; White SM; Weisburd B; Wieczorek D; Waddell LB; Verboon JM; VanNoy GE; Töpf A; Tan TY; Syrbe S; Strehlow V; Straub V; Stenton SL; Snow H; Singer-Berk M; Silver J; Shril S; Seaby EG; Schneider R; Sankaran VG; Sanchis-Juan A; Russell KA; Reinson K; Ravenscroft G; Radtke M; Popp D; Polster T; Platzer K; Pierce EA; Place EM; Pajusalu S; Pais L; Õunap K; Osei-Owusu I; Opperman H; Okur V; Oja KT; O'Leary M; O'Heir E; Morel CF; Merkenschlager A; Marchant RG; Mangilog BE; Madden JA; MacArthur D; Lovgren A; Lerner-Ellis JP; Lin J; Laing N; Hildebrandt F; Hentschel J; Groopman E; Goodrich J; Gleeson JG; Ghaoui R; Genetti CA; Gburek-Augustat J; Gazda HT; Ganesh VS; Ganapathi M; Gallacher L; Fu JM; Evangelista E; England E; Donkervoort S; DiTroia S; Cooper ST; Chung WK; Christodoulou J; Chao KR; Cato LD; Bujakowska KM; Bryen SJ; Brand H; Bönnemann CG; Beggs AH; Baxter SM; Bartolomaeus T; Agrawal PB; Talkowski M; Austin-Tse C; Abou Jamra R; Rehm HL; O'Donnell-Luria A
N Engl J Med; 2024 Jun; 390(21):1985-1997. PubMed ID: 38838312
[TBL] [Abstract][Full Text] [Related]
11. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
[TBL] [Abstract][Full Text] [Related]
12. Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J; Koller S; Feil S; Bachmann-Gagescu R; Gerth-Kahlert C; Berger W
Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928247
[TBL] [Abstract][Full Text] [Related]
13. Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Whelan L; Dockery A; Wynne N; Zhu J; Stephenson K; Silvestri G; Turner J; O'Byrne JJ; Carrigan M; Humphries P; Keegan D; Kenna PF; Farrar GJ
Genes (Basel); 2020 Jan; 11(1):. PubMed ID: 31963381
[TBL] [Abstract][Full Text] [Related]
14. Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.
da Palma MM; Motta FL; Gomes CP; Salles MV; Pesquero JB; Sallum JMF
Invest Ophthalmol Vis Sci; 2020 Feb; 61(2):38. PubMed ID: 32097478
[TBL] [Abstract][Full Text] [Related]
15. Molecular genetic studies of complex phenotypes.
Marian AJ
Transl Res; 2012 Feb; 159(2):64-79. PubMed ID: 22243791
[TBL] [Abstract][Full Text] [Related]
16. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
Zeuli R; Karali M; de Bruijn SE; Rodenburg K; Scarpato M; Capasso D; Astuti GDN; Gilissen C; Rodríguez-Hidalgo M; Ruiz-Ederra J; Testa F; Simonelli F; Cremers FPM; Banfi S; Roosing S
HGG Adv; 2024 May; 5(3):100314. PubMed ID: 38816995
[TBL] [Abstract][Full Text] [Related]
17. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.
de Castro-Miró M; Tonda R; Marfany G; Casaroli-Marano RP; Gonzàlez-Duarte R
Br J Ophthalmol; 2018 Oct; 102(10):1378-1386. PubMed ID: 29367200
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M; Nishiguchi KM; Avila-Fernández A; Nikopoulos K; Riveiro-Alvarez R; Tatu SD; Ayuso C; Rivolta C
PLoS One; 2013; 8(6):e65574. PubMed ID: 23940504
[TBL] [Abstract][Full Text] [Related]
19. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Jurkute N; D'Esposito F; Robson AG; Pitceathly RDS; Cordeiro F; Raymond FL; Moore AT; Michaelides M; Yu-Wai-Man P; Webster AR; Arno G;
Invest Ophthalmol Vis Sci; 2021 Dec; 62(15):12. PubMed ID: 34905022
[TBL] [Abstract][Full Text] [Related]
20. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
Ouyang P; Li Y; Zhang F; Zhu C; Zou B; Le J; Zhang L
Mol Med Rep; 2018 Jun; 17(6):7918-7924. PubMed ID: 29620233
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
