Publications by authors named "Malak Alghamdi"

16Publications

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Front Pediatr 2020 11;8:569389. Epub 2020 Nov 11.

King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3389/fped.2020.569389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7686133PMC
November 2020

Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.

J Clin Immunol 2020 Sep 28. Epub 2020 Sep 28.

Research Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah, 21499, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1007/s10875-020-00870-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521190PMC
September 2020

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

Effect of common medications on the expression of SARS-CoV-2 entry receptors in liver tissue.

Arch Toxicol 2020 12 17;94(12):4037-4041. Epub 2020 Aug 17.

College of Medicine, Sharjah Institute of Medical Research, University of Sharjah, P.O. Box 27272, Sharjah, United Arab Emirates.

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http://dx.doi.org/10.1007/s00204-020-02869-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430937PMC
December 2020

A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness.

J Endocr Soc 2020 Feb 29;4(2):bvz028. Epub 2019 Nov 29.

Sharjah Institute for Medical Research (SIMR), Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

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http://dx.doi.org/10.1210/jendso/bvz028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041699PMC
February 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

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

Inflammatory bowel disease: An evaluation of health information on the internet.

World J Gastroenterol 2017 Mar;23(9):1676-1696

Samy A Azer, Thekra I AlOlayan, Malak A AlGhamdi, Malak A AlSanea, Curriculum Development and Research Unit, Medical Education Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.

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http://dx.doi.org/10.3748/wjg.v23.i9.1676DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340820PMC
March 2017

An untold story: The important contributions of Muslim scholars for the understanding of human anatomy.

Anat Rec (Hoboken) 2017 Jun 19;300(6):986-1008. Epub 2017 Jan 19.

Department of Anatomy, Howard University College of Medicine, Washington, DC, 20059.

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http://dx.doi.org/10.1002/ar.23523DOI Listing
June 2017