Publications by authors named "Abdulaziz Alsemari"

16Publications

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

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

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

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis.

Appl Clin Genet 2018 8;11:129-134. Epub 2018 Nov 8.

Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia,

View Article

Download full-text PDF

Source
https://www.dovepress.com/potential-oligogenic-disease-of-me
Publisher Site
http://dx.doi.org/10.2147/TACG.S172176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231439PMC
November 2018

The impact of old versus new antiepileptic drugs on costs and patient reported outcomes among older adults.

Geriatr Nurs 2018 11 30;39(6):669-675. Epub 2018 May 30.

Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gerinurse.2018.05.001DOI Listing
November 2018

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Hum Genomics 2017 12 8;11(1):33. Epub 2017 Dec 8.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC 03, PO Box 3354, Riyadh, 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-017-0130-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723066PMC
December 2017

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Hum Genomics 2017 Nov 14;11(1):28. Epub 2017 Nov 14.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC 03, PO Box 3354, Riyadh, 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-017-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686820PMC
November 2017

Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.

Clin Case Rep 2016 Feb 23;4(2):111-7. Epub 2015 Nov 23.

Department of Pathology and Laboratory Medicine King Faisal Specialist Hospital and Research Centre PO box 3354 Riyadh 11211 Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736521PMC
February 2016

The selective cytotoxic anti-cancer properties and proteomic analysis of Trigonella Foenum-Graecum.

BMC Complement Altern Med 2014 Mar 29;14:114. Epub 2014 Mar 29.

Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, PO box 3354, Riyadh 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1472-6882-14-114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021494PMC
March 2014

Response of ictal asystole to pacemaker implantation documented by video-EEG/ECG.

Can J Neurol Sci 2013 Jul;40(4):606-8

Section of Neurology, Department of Neurosciences, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/s0317167100014773DOI Listing
July 2013

Hypogonadism and neurological diseases.

Neurol Sci 2013 May 5;34(5):629-38. Epub 2013 Jan 5.

Neurology Section, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, MBC. 76, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-012-1278-4DOI Listing
May 2013

Ictal kissing with subdural EEG recording.

Epilepsy Behav Case Rep 2013 15;1:79-84. Epub 2013 Jun 15.

Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ebcr.2013.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150642PMC
February 2015

Natural course of epilepsy concomitant with CNS tuberculomas.

Epilepsy Res 2012 Mar 26;99(1-2):107-11. Epub 2011 Nov 26.

Neurology Section, Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, MBC 76, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2011.10.032DOI Listing
March 2012

Primary Sjogren's syndrome with central nervous system involvement.

Saudi Med J 2009 Aug;30(8):1067-72

Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, MBC 76, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia.

View Article

Download full-text PDF

Source
August 2009