Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar-Reference-Cited by-同舟云学术

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

Published:2013-10-13 Issue:2 Volume:86 Page:134-141
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Fahiminiya S.¹,Almuriekhi M.²,Nawaz Z.³,Staffa A.¹,Lepage P.¹,Ali R.²,Hashim L.²,Schwartzentruber J.¹,Abu Khadija K.³,Zaineddin S.³,Gamal H.²,Majewski J.¹,Ben-Omran T.²

Affiliation:

1. Department of Human Genetics, Faculty of Medicine; McGill University and Genome Quebec Innovation Center; Montreal Quebec Canada

2. Section of Clinical and Metabolic Genetics, Department of Pediatrics

3. Cytogenetic and Molecular Cytogenetic Laboratory, Department of Laboratory, Medicine and Pathology; Hamad Medical Corporation; Doha Qatar

Funder

Qatar National Research Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA;Riordan;Science,1989

2. A polymorphic DNA marker genetically linked to Huntington's disease;Gusella;Nature,1983

3. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders;Rabbani;J Hum Genet,2012

4. What can exome sequencing do for you?;Majewski;J Med Genet,2011

5. Exome sequencing identifies the cause of a Mendelian disorder;Ng;Nat Genet,2010

Cited by 78 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genome-Wide Mapping of Consanguineous Families Confirms Previously Implicated Gene Loci and Suggests New Loci in Specific Language Impairment (SLI);Children;2024-08-30

2. Lost in translation: How neurons cope with tRNA decoding;BioEssays;2024-07-11

3. A novel variant in NSUN2 causes intellectual disability in a Chinese family;BMC Medical Genomics;2024-04-20

4. A Novel Variant in NSUN2 Causes Intellectual Disability in a Chinese Family;2023-10-06

5. A Case of X-Linked Hypophosphatemia: Exploring the Burden in a Single Family and the Significance of a Multidisciplinary Approach;Archives of Case Reports;2023-09-15