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Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar

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Year: 2019
Type: article
Study design: Observational Study
Source: Human Molecular Genetics
DOI: 10.1093/hmg/ddz134
Authors: Khalid A Fakhro, Amal Robay, Juan L Rodrigues-Flores, Jason G Mezey, Alya A Al-Shakaki, Omar Chidiac, Dora Stadler, Joel A Malek, Abu Bakr Imam, Arwa Sheikh, Asmaa Azzam, Ibrahim Janahi, Izzat Khanjar, Kamal Osman, Maen Abu Ziki, Mohamed Adnan Mahmah, Mohamed Selim, Nuha Numeiri, Rehab Ali, Shenela Lakhani, Fizza Butt, Tawfeg Ben Omran, Ronald G Crystal
Institutions: Sidra Medical and Research Center, Weill Cornell Medical College in Qatar, Weill Cornell Medicine, Cornell University, Hamad Medical Corporation, Unity Health System, Unity Hospital, Yale University
Language: English

Topic: Genomics and Rare Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Qatar Foundation, Weill Cornell Medical College, Qatar National Research Fund
Awards: G1985767945, G3693264487, G4235203845, G7757308664
OpenAlex ID: W2981007789
FWCI: 2.083
Cites: 33
Cited by: 26
Related to: 10
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