Burden of Mendelian disorders in a large Middle Eastern biobank

Authors: Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-17 (2024)

Subject Terms: Mendelian disorders, Rare genetic disease, Genome sequencing, Consanguinity, Qatar, Middle East, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/b4266c219952427a95b95677aa94733a

P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank

Authors: Geethanjali Devadoss Gandhi, Najeeb Syed, Fazulur Vempalli, Mona Abdi, Elbay Aliyev, Navaneethakrishnan Krishnamoorthy, Chadi Saad, Hamdi Mbarek, Ramin Badii, Qatar Genome Program Research Consortium, Ammira Akil, Tawfeg Ben-Omran, Khalid Fakhro

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 100903- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000499; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/87f23a6e153e4f929c7bd9dd40983b88

Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population

Authors: Massimo Mezzavilla, Massimiliano Cocca, Pierpaolo Maisano Delser, Ramin Badii, Fatemeh Abbaszadeh, Khalid Abdul Hadi, Girotto Giorgia, Paolo Gasparini

Source: BMC Genomic Data, Vol 23, Iss 1, Pp 1-10 (2022)

Subject Terms: Qatar population, Admixture, Runs of homozygosity, Positive selection, Loss of function, Warfarin response, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2730-6844

Access URL: https://doaj.org/article/dddc64d92fa54427aa54a7c55358e488

The QChip1 knowledgebase and microarray for precision medicine in Qatar

Authors: Juan L. Rodriguez-Flores, Radja Messai-Badji, Amal Robay, Ramzi Temanni, Najeeb Syed, Monika Markovic, Eiman Al-khayat, Fatima Qafoud, Zafar Nawaz, Ramin Badii, Yasser Al-Sarraj, Hamdi Mbarek, Wadha Al-Muftah, Muhammad Alvi, Mahboubeh R. Rostami, Juan Carlos Martinez Cruzado, Jason G. Mezey, Alya Al Shakaki, Joel A. Malek, Matthew B. Greenblatt, Khalid A. Fakhro, Khaled Machaca, Ajayeb Al-Nabet, Nahla Afifi, Andrew Brooks, Said I. Ismail, Asmaa Althani, Ronald G. Crystal

Source: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-21 (2022)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/37726560b48d41ea9a863392829c265f

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population

Authors: Aziz Belkadi, Gaurav Thareja, Fatemeh Abbaszadeh, Ramin Badii, Eric Fauman, Omar M.E. Albagha, Karsten Suhre

Source: Cell Genomics, Vol 3, Iss 1, Pp 100218- (2023)

Subject Terms: human gene knockouts, metabolomics, proteomics, whole-genome sequencing, consanguineous population, drug target validation, drug target identification, Genetics, QH426-470, Internal medicine, RC31-1245

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666979X22001719; https://doaj.org/toc/2666-979X

Access URL: https://doaj.org/article/e1770f153d584d008d88b05b5bb7250b

Discovering novel biochemical and genetic markers for coronary heart disease in Qatari individuals: The initiative Qatar cardiovascular biorepository

Authors: Ayman El-Menyar, Jassim Al Suwaidi, Ramin Badii, Fayaz Mir, Angela K Dalenberg, Iftikhar J Kullo

Source: Heart Views, Vol 21, Iss 1, Pp 6-16 (2020)

Subject Terms: atherosclerosis, biomarkers, biorepository, coronary heart disease, genetics, qatar, risk factors, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.heartviews.org/article.asp?issn=1995-705X;year=2020;volume=21;issue=1;spage=6;epage=16;aulast=El-Menyar; https://doaj.org/toc/1995-705X

Access URL: https://doaj.org/article/8f3af2536b094e48be170c318120f78d

Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population.

Authors: Sarah L O'Beirne, Jacqueline Salit, Juan L Rodriguez-Flores, Michelle R Staudt, Charbel Abi Khalil, Khalid A Fakhro, Amal Robay, Monica D Ramstetter, Joel A Malek, Mahmoud Zirie, Amin Jayyousi, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Abdulbari Bener, Mai Mahmoud, Maria J Chiuchiolo, Alya Al-Shakaki, Omar Chidiac, Dora Stadler, Jason G Mezey, Ronald G Crystal

Source: PLoS ONE, Vol 13, Iss 9, p e0199837 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC6136697?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/3bc29196bf8746a88fb56c0bfb23126d

Type 2 Diabetes Risk Allele Loci in the Qatari Population.

Authors: Sarah L O'Beirne, Jacqueline Salit, Juan L Rodriguez-Flores, Michelle R Staudt, Charbel Abi Khalil, Khalid A Fakhro, Amal Robay, Monica D Ramstetter, Iman K Al-Azwani, Joel A Malek, Mahmoud Zirie, Amin Jayyousi, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Maria J Chiuchiolo, Alya Al-Shakaki, Omar Chidiac, Maey Gharbiah, Abdulbari Bener, Dora Stadler, Neil R Hackett, Jason G Mezey, Ronald G Crystal

Source: PLoS ONE, Vol 11, Iss 7, p e0156834 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4934876?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/23fe42e26a404d9889315c23e2c9f95d

Correction: Type 2 Diabetes Risk Allele Loci in the Qatari Population.

Authors: Sarah L O'Beirne, Jacqueline Salit, Juan L Rodriguez-Flores, Michelle R Staudt, Charbel Abi Khalil, Khalid A Fakhro, Amal Robay, Monica D Ramstetter, Iman K Al-Azwani, Joel A Malek, Mahmoud Zirie, Amin Jayyousi, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Maria J Chiuchiolo, Alya Al-Shakaki, Omar Chidiac, Maey Gharbiah, Abdulbari Bener, Dora Stadler, Neil R Hackett, Jason G Mezey, Ronald G Crystal

Source: PLoS ONE, Vol 11, Iss 8, p e0161910 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4995036?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/83b5fcc2d5ee4b2380283a0d191ee0c8

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

Authors: Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P Steel, Ramin Badii, Paolo Gasparini

Source: PLoS ONE, Vol 8, Iss 12, p e80323 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3846559?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/6f98223b1aec499baed0ab3f0863ba01

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