Targeted next generation sequencing identifies novel mutations in Indian patients with retinal dystrophies

Next Generation ◽

Novel Mutations ◽

Retinal Dystrophies ◽

Indian Patients ◽

Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines

Child s Nervous System ◽

10.1007/s00381-020-04791-4 ◽

2020 ◽

Vol 36 (9) ◽

pp. 1827-1830

Author(s):

Lang He ◽

Wei Ye ◽

Zhao Chen ◽

Xinling Meng ◽

Hong Jiang

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Next Generation ◽

Novel Mutations ◽

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

PLoS ONE ◽

10.1371/journal.pone.0139738 ◽

2015 ◽

Vol 10 (10) ◽

pp. e0139738 ◽

Cited By ~ 6

Author(s):

Zhao Chen ◽

Wei Ye ◽

Zhe Long ◽

Dongxue Ding ◽

Huirong Peng ◽

...

Keyword(s):

Precision Medicine ◽

Ataxia Telangiectasia ◽

Next Generation ◽

Novel Mutations ◽

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2018.05.012 ◽

2018 ◽

Vol 71 ◽

pp. 265.e9-265.e14 ◽

Cited By ~ 8

Author(s):

Priyam Narain ◽

Ashutosh Pandey ◽

Shruti Gupta ◽

James Gomes ◽

Rohit Bhatia ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Rare Variants ◽

Next Generation ◽

Indian Patients ◽

Generation Sequencing ◽

Lateral Sclerosis

Application of Targeted Next-Generation Sequencing in Patients with Autosomal Recessive Inherited Retinal Dystrophies: Improvement of Genetic and Clinical Diagnosis

Translational Medicine ◽

10.4172/2161-1025.1000128 ◽

2014 ◽

Vol 04 (02) ◽

Author(s):

Xiaoxing Liu Jingjing Xiao

Keyword(s):

Clinical Diagnosis ◽

Autosomal Recessive ◽

Next Generation ◽

Inherited Retinal Dystrophies ◽

Retinal Dystrophies ◽

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

BMC Medical Genetics ◽

10.1186/s12881-019-0794-y ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 2

Author(s):

Huifang Yan ◽

Zhen Shi ◽

Ye Wu ◽

Jiangxi Xiao ◽

Qiang Gu ◽

...

Keyword(s):

Intellectual Disability ◽

Candidate Gene ◽

Developmental Delay ◽

Chinese Patients ◽

Next Generation ◽

Novel Mutations ◽

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe

Experimental Eye Research ◽

10.1016/j.exer.2015.11.011 ◽

2016 ◽

Vol 145 ◽

pp. 93-99 ◽

Cited By ~ 11

Author(s):

Aneta Ścieżyńska ◽

Dominika Oziębło ◽

Anna M. Ambroziak ◽

Magdalena Korwin ◽

Kamil Szulborski ◽

...

Keyword(s):

Central Europe ◽

High Frequency ◽

Next Generation ◽

Novel Mutations ◽

Retinal Dystrophies ◽

Novel mutations identified in patients with a mild phenotype of Ullrich congenital muscular dystrophy through targeted next-generation sequencing

Neurology and Clinical Neuroscience ◽

10.1111/ncn3.43 ◽

2013 ◽

Vol 1 (4) ◽

pp. 148-153

Author(s):

Jun-Hui Yuan ◽

Itsuro Higuchi ◽

Yusuke Sakiyama ◽

Yukie Inamori ◽

Eiji Matsuura ◽

...

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Next Generation ◽

Novel Mutations ◽

Mild Phenotype ◽

Ullrich Congenital Muscular Dystrophy ◽

Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2

Molecular Medicine Reports ◽

10.3892/mmr.2017.8191 ◽

2017 ◽

Cited By ~ 1

Author(s):

Jiao Wang ◽

Zhongji Pu ◽

Zhenhua Lu

Keyword(s):

Liver Failure ◽

Next Generation ◽

Novel Mutations ◽

Correction: Increasing The Yield In Targeted Next-Generation Sequencing By Implicating Cnv Analysis, Non-Coding Exons And The Overall Variant Load: The Example Of Retinal Dystrophies

PLoS ONE ◽

10.1371/journal.pone.0108840 ◽

2014 ◽

Vol 9 (11) ◽

pp. e108840

Author(s):

Keyword(s):

Next Generation ◽

Retinal Dystrophies ◽

Targeted next-generation sequencing identified novel mutations in triple-negative myeloproliferative neoplasms

Medical Oncology ◽

10.1007/s12032-017-0944-z ◽

2017 ◽

Vol 34 (5) ◽

Cited By ~ 15

Author(s):

Yu-Cheng Chang ◽

Huan-Chau Lin ◽

Yi-Hao Chiang ◽

Caleb Gon-Shen Chen ◽

Ling Huang ◽

...

Keyword(s):

Triple Negative ◽

Myeloproliferative Neoplasms ◽

Next Generation ◽

Novel Mutations ◽