Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience-Reference-Cited by-同舟云学术

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

Published:2019-03-27 Issue:6 Volume:179 Page:927-935
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Al‐Dewik Nader¹²^ORCID,Mohd Howaida¹,Al‐Mureikhi Mariam¹,Ali Rehab¹,Al‐Mesaifri Fatma¹,Mahmoud Laila¹,Shahbeck Noora¹,El‐Akouri Karen¹,Almulla Mariam¹,Al Sulaiman Reem¹,Musa Sara¹,Al‐Marri Ajayeb Al‐Nabet³,Richard Gabriele⁴,Juusola Jane⁴,Solomon Benjamin D.⁴^ORCID,Alkuraya Fowzan S.⁵⁶^ORCID,Ben‐Omran Tawfeg¹⁷⁸

Affiliation:

1. Clinical and Metabolic Genetics, Department of PediatricsHamad Medical Corporation Doha Qatar

2. College of Health and Life SciencesHamad Bin Khalifa University (HBKU) Doha Qatar

3. Laboratory Medicine and PathologyHamad Medical Corporation Qatar

4. Clinical Genomics ProgramGeneDx, Inc. Gaithersburg Maryland USA

5. Department of Genetics, Research CenterKing Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

6. Department of Anatomy and Cell BiologyCollege of Medicine, Alfaisal University Riyadh Saudi Arabia

7. Department of pediatricWeill Cornell Medical College Doha Qatar

8. Division of Genetic & Genomics MedicineSidra Medicine Doha Qatar

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61126

Reference16 articles.

1. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

2. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

3. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

4. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

5. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

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