Cargando…

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families extensively screened for known mutations or genes. Thirty-eight individuals were subjected to WES. Causative variants were searched among single nuc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Almoguera, Berta, Li, Jiankang, Fernandez-San Jose, Patricia, Liu, Yichuan, March, Michael, Pellegrino, Renata, Golhar, Ryan, Corton, Marta, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Zhang, Jianguo, Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Ayuso, Carmen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509755/ https://www.ncbi.nlm.nih.gov/pubmed/26197217 http://dx.doi.org/10.1371/journal.pone.0133624

Ejemplares similares

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
por: Almoguera, Berta, et al.
Publicado: (2014)

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
por: García-García, Gema, et al.
Publicado: (2020)

Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
por: Blanco-Kelly, Fiona, et al.
Publicado: (2012)

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments
por: Liu, Yichuan, et al.
Publicado: (2016)

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments
por: Liu, Yichuan, et al.
Publicado: (2015)

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes
por: Almoguera, Berta, et al.
Publicado: (2014)

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa
por: Ma, Xiangyu, et al.
Publicado: (2015)

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing
por: Guo, Yiran, et al.
Publicado: (2017)

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
por: Perez-Carro, Raquel, et al.
Publicado: (2016)

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa
por: Corton, M., et al.
Publicado: (2016)

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa
por: Xiao, Xiaoqiang, et al.
Publicado: (2019)

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
por: Ávila-Fernández, Almudena, et al.
Publicado: (2010)

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
por: Perez-Carro, Raquel, et al.
Publicado: (2016)

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
por: Gamundi, María José, et al.
Publicado: (2006)

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa
por: Katagiri, Satoshi, et al.
Publicado: (2014)

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
por: Riveiro-Alvarez, Rosa, et al.
Publicado: (2008)

Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease
por: Prieto-Pérez, Rocío, et al.
Publicado: (2016)

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts
por: Sleiman, Patrick, et al.
Publicado: (2014)

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa
por: Benaglio, Paola, et al.
Publicado: (2014)

Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families
por: Yang, Liping, et al.
Publicado: (2013)

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Gao, Meng, et al.
Publicado: (2016)

Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa
por: Yang, Yin, et al.
Publicado: (2016)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

Expression Pattern of the SARS-CoV-2 Entry Genes ACE2 and TMPRSS2 in the Respiratory Tract
por: Liu, Yichuan, et al.
Publicado: (2020)

Machine learning derived risk prediction of anorexia nervosa
por: Guo, Yiran, et al.
Publicado: (2016)

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
por: Méndez-Vidal, Cristina, et al.
Publicado: (2013)

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies
por: Garcia-Hoyos, Maria, et al.
Publicado: (2011)

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy
por: Nikopoulos, Konstantinos, et al.
Publicado: (2015)

Gene therapy in animal models of autosomal dominant retinitis pigmentosa
por: Rossmiller, Brian, et al.
Publicado: (2012)

SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
por: Liu, Yuan, et al.
Publicado: (2015)

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
por: Arno, Gavin, et al.
Publicado: (2016)

Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa
por: Massengill, Michael T., et al.
Publicado: (2021)

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
por: Zhang, Tao, et al.
Publicado: (2021)

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
por: Blanco-Kelly, Fiona, et al.
Publicado: (2016)

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
por: Connolly, John J., et al.
Publicado: (2014)

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
por: Bowne, Sara J., et al.
Publicado: (2008)

SLC7A14 linked to autosomal recessive retinitis pigmentosa
por: Jin, Zi-Bing, et al.
Publicado: (2014)

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa
por: Yi, Zhen, et al.
Publicado: (2020)

Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing
por: Kocaaga, Ayca, et al.
Publicado: (2023)

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss
por: Khateb, Samer, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_mb91e48tk3msguioap2e08n5jc