Publications by authors named "Naif Almontashiri"

24Publications

iSCAN: An RT-LAMP-coupled CRISPR-Cas12 module for rapid, sensitive detection of SARS-CoV-2.

Virus Res 2020 10 18;288:198129. Epub 2020 Aug 18.

Laboratory for Genome Engineering and Synthetic Biology, Division of Biological Sciences, 4700 King Abdullah University of Science and Technology, Thuwal, 23955-6900, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.virusres.2020.198129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434412PMC
October 2020

Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

Sci Rep 2020 Jul 7;10(1):11160. Epub 2020 Jul 7.

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41598-020-68532-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341886PMC
July 2020

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

Sci Rep 2020 06 10;10(1):9382. Epub 2020 Jun 10.

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/s41598-020-66401-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7287104PMC
June 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

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

Clin Chem 2018 12;64(12):1785-1787

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA;

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http://dx.doi.org/10.1373/clinchem.2018.293696DOI Listing
December 2018

Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.

Clin Chem 2018 08;64(8):1260-1262

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA;

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http://dx.doi.org/10.1373/clinchem.2018.291146DOI Listing
August 2018

The 9p21.3 risk locus for coronary artery disease: A 10-year search for its mechanism.

J Taibah Univ Med Sci 2017 Jun 25;12(3):199-204. Epub 2017 Apr 25.

Department of Pathology, Massachusetts General Hospital, Harvard University, Boston, USA.

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http://dx.doi.org/10.1016/j.jtumed.2017.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694924PMC
June 2017

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.

J Mol Diagn 2016 11 15;18(6):882-889. Epub 2016 Sep 15.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology/MGH, Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.07.005DOI Listing
November 2016

9p21.3 Coronary Artery Disease Risk Variants Disrupt TEAD Transcription Factor-Dependent Transforming Growth Factor β Regulation of p16 Expression in Human Aortic Smooth Muscle Cells.

Circulation 2015 Nov 20;132(21):1969-78. Epub 2015 Oct 20.

From Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ontario, Canada (N.A.M.A., D.A., R.O.V., S.X.Z., K.N.H., A.F.R.S.); Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ontario, Canada (N.A.M.A., D.A., R.O.V., A.F.R.S.); Center for Genetics and Inherited Diseases, Taibah University, Almadina, Saudi Arabia (N.A.M.A.); Ottawa Hospital Research Institute, Ontario, Canada (X.Z.); and Department of Medicine, University of Ottawa, Ontario, Canada (H.-H.C., A.F.R.S.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.114.015023DOI Listing
November 2015

IRF2BP2 Reduces Macrophage Inflammation and Susceptibility to Atherosclerosis.

Circ Res 2015 Sep 20;117(8):671-83. Epub 2015 Jul 20.

From the Department of Cellular and Molecular Medicine, University of Ottawa, and the Ottawa Hospital Research Institute, Ottawa, Ontario, Canada (H.-H.C., K.K., X.Z., S.A.C., N.R.P., C.A.S., H.H., A.H.); the Department of Biochemistry, Microbiology and Immunology, University of Ottawa, and the University of Ottawa Heart Institute, Ottawa, Ontario, Canada (R.O.V., N.A.M.A., N.L.Y., T.H., M.G., R.M., K.J.R., A.F.R.S.); and Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada (H.H.C., R.M., A.F.R.S.).

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.114.30577
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http://dx.doi.org/10.1161/CIRCRESAHA.114.305777DOI Listing
September 2015

Plasma PCSK9 levels are elevated with acute myocardial infarction in two independent retrospective angiographic studies.

PLoS One 2014 2;9(9):e106294. Epub 2014 Sep 2.

Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, Ontario, Canada; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, Ontario, Canada; Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0106294PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152257PMC
May 2015

Functional genomics of the 9p21.3 locus for atherosclerosis: clarity or confusion?

Curr Cardiol Rep 2014 Jul;16(7):502

Ottawa Hospital Research Institute, 451 Smyth Road, RGN Hall, Rm 2422, K1H 8M5, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1007/s11886-014-0502-7DOI Listing
July 2014

SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.

Cell Rep 2014 May 24;7(3):834-47. Epub 2014 Apr 24.

Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y, Canada; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.03.051DOI Listing
May 2014

Interferon-γ activates expression of p15 and p16 regardless of 9p21.3 coronary artery disease risk genotype.

J Am Coll Cardiol 2013 Jan 28;61(2):143-7. Epub 2012 Nov 28.

Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jacc.2012.08.1020DOI Listing
January 2013