Publications by authors named "Fahad Bashiri"

34Publications

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Clin Genet 2020 Sep 4. Epub 2020 Sep 4.

Computational Bioscience, Research Center (CBRC); Division of Biological and Environmental Sciences and Engineering, (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.

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http://dx.doi.org/10.1111/cge.13843DOI Listing
September 2020

A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19.

Neurosciences (Riyadh) 2020 07;25(3):230-237

Neuroscience Center, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia. E-mail:

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http://dx.doi.org/10.17712/nsj.2020.3.20200083DOI Listing
July 2020

Predicting future handedness and hemispheric dominance during infancy by analyzing sleep spindles.

Neurosciences (Riyadh) 2020 Jul;25(3):188-192

Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.17712/nsj.2020.3.20190129DOI Listing
July 2020

Evaluation of adherence to pediatric status epilepticus management guidelines in Saudi Arabia.

Neurosciences (Riyadh) 2020 Jul;25(3):182-187

Division of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.17712/nsj.2020.3.20190106DOI Listing
July 2020

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

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.

N Engl J Med 2020 01;382(3):256-265

From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department of Pediatrics, College of Medicine, Imam Mohammed bin Saud University (A.A.), and the Department of Radiology and Medical Imaging, King Saud University Medical City (H.H.H.) - all in Riyadh, Saudi Arabia; the Departments of Microbiology and Pediatrics and the Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai (M.M.-F., X.Q., S.B., C.G., D.B.), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University (E.J., J.-L.C., J.B.), and Howard Hughes Medical Institute (J.-L.C.) - all in New York; Paris Descartes University, Imagine Institute, and the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (T.L.V., E.J., J.-L.C., J.B.), and the Pediatric Hematology and Immunology Unit (J.-L.C.) and the Center for the Study of Primary Immunodeficiencies (J.B.), Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children - all in Paris; the Department of Pediatrics, Assiut Faculty of Medicine, Assiut University, Assiut, Egypt (G.M.H.); and Sharjah Institute for Medical Research, Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates (R.H.).

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http://dx.doi.org/10.1056/NEJMoa1905633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155173PMC
January 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

Hypokalemic periodic paralysis due to CACNA1S gene mutation.

Neurosciences (Riyadh) 2019 Jul;24(3):225-230

Division of Pediatric Nephrology, Pediatric Department, College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail:

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http://dx.doi.org/10.17712/nsj.2018.3.20180005DOI Listing
July 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

Effect of new modalities of treatment on physicians management plan for patients with spinal muscular atrophy.

Neurosciences (Riyadh) 2019 01;24(1):16-21

Division of Neurology, Department of Pediatrics, College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail:

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http://dx.doi.org/10.17712/nsj.2019.1.20180321DOI Listing
January 2019

Satisfaction and perceived usefulness with newly-implemented Electronic Health Records System among pediatricians at a university hospital.

Comput Methods Programs Biomed 2019 Feb 26;169:51-57. Epub 2018 Dec 26.

Pediatrics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Clinical Practice Guidelines Unit, Quality Management Department, King Saud University Medical City, Riyadh, Saudi Arabia; Research Chair for Evidence-Based Health Care and Knowledge Translation, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.cmpb.2018.12.026DOI Listing
February 2019

Assessment of physicians knowledge and attitudes in the management of febrile seizures.

Neurosciences (Riyadh) 2018 Oct;23(4):314-319

Division of Neurology, Department of Pediatrics, College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail:

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http://dx.doi.org/10.17712/nsj.2018.4.20180097DOI Listing
October 2018

Respiratory support attitudes among pediatric intensive care staff for spinal muscular atrophy patients in Saudi Arabia.

Neurosciences (Riyadh) 2018 Jan;23(1):62-65

Pediatric Intensive Care Unit, Pediatric Department, King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia.

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http://www.neurosciencesjournal.org/PDFFiles/Jan18/11Respira
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http://dx.doi.org/10.17712/nsj.2018.1.20170103DOI Listing
January 2018

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

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

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http://dx.doi.org/10.1007/s00439-017-1821-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502059PMC
August 2017

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Am J Hum Genet 2017 Jun;100(6):969-977

Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.ajhg.2017.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473715PMC
June 2017

Idiopathic intracranial hypertension in children: Diagnostic and management approach.

Sudan J Paediatr 2016 ;16(2):67-76

Division of Neurology, Departments of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud University , Riyadh , Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5237838PMC
January 2016

Childhood epilepsies: What should a pediatrician know?

Authors:
Fahad A Bashiri

Neurosciences (Riyadh) 2017 01;22(1):14-19

Department of Pediatrics, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726831PMC
http://dx.doi.org/10.17712/nsj.2017.1.20160244DOI Listing
January 2017

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.

Hum Genet 2015 Aug 10;134(8):815-22. Epub 2015 May 10.

Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh, 11211, Saudi Arabia.

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http://link.springer.com/content/pdf/10.1007/s00439-015-1561
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http://link.springer.com/10.1007/s00439-015-1561-6
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http://dx.doi.org/10.1007/s00439-015-1561-6DOI Listing
August 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

Sturge-Weber syndrome: Continued vigilance is needed.

Sudan J Paediatr 2015 ;15(2):63-70

(1) Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958665PMC
August 2016

Mycoplasma pneumoniae Infection: Risk Factor for Childhood Stroke.

Authors:
Fahad A Bashiri

Glob Pediatr Health 2015 23;2:2333794X15592764. Epub 2015 Jun 23.

Division of Neurology,Department of Pediatrics,College of Medicine & King Khalid University Hospital,King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/2333794X15592764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784591PMC
June 2016