Publications by authors named "Asma Tahir"

17Publications

Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.

Eur J Med Genet 2020 May 14;63(5):103844. Epub 2020 Jan 14.

King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ejmg.2020.103844DOI Listing
May 2020

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 Oct;105(4):879

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http://dx.doi.org/10.1016/j.ajhg.2019.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817532PMC
October 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 06 23;104(6):1182-1201. Epub 2019 May 23.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562004PMC
June 2019

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

BMC Res Notes 2016 Jun 7;9:295. Epub 2016 Jun 7.

Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s13104-016-2102-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897907PMC
June 2016

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.

Am J Hum Genet 2015 Jan 11;96(1):147-52. Epub 2014 Dec 11.

Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289688PMC
January 2015

A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.

Dis Markers 2014 26;2014:291419. Epub 2014 Jun 26.

Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia ; Cardiovascular and Pharmacogenomics Unit, MBC-03-05, Genetics Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1155/2014/291419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098619PMC
April 2015

A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits.

Gene 2014 Jul 28;544(2):152-8. Epub 2014 Apr 28.

Genetics Department, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh 11211, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.04.064DOI Listing
July 2014

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Eur J Med Genet 2014 May-Jun;57(6):253-8. Epub 2014 Apr 21.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O.Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.004DOI Listing
February 2015

The 3'-UTR of the adiponectin Q gene harbours susceptibility loci for atherosclerosis and its metabolic risk traits.

BMC Med Genet 2013 Dec 13;14:127. Epub 2013 Dec 13.

Genetics Department, King Faisal Specialist Hospital and Research Centre, P,O, Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2350-14-127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925068PMC
December 2013

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.

Hum Genomics 2013 Dec 12;7:25. Epub 2013 Dec 12.

Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/1479-7364-7-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899629PMC
December 2013