Publications by authors named "Fathiya Al-Murshedi"

26Publications

Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.

Clin Genet 2020 Nov 9;98(5):520-521. Epub 2020 Sep 9.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

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November 2020

A Novel Splice-Site Variant in Causes Andermann Syndrome without Agenesis of the Corpus Callosum.

J Pediatr Genet 2020 Dec 6;9(4):293-295. Epub 2020 Jan 6.

Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.

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December 2020

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Hum Genet 2020 May 3;139(5):615-622. Epub 2020 Mar 3.

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

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May 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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March 2020

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Pediatr Neurol 2019 07 18;96:40-47. Epub 2019 Feb 18.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address:

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July 2019

Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome.

J Obstet Gynaecol Can 2019 Apr 6;41(4):492-494. Epub 2018 Nov 6.

Department of Obstetrics and Gynecology, Sohar Hospital, Sohar, Oman.

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April 2019

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Clin Genet 2018 12 12;94(6):495-501. Epub 2018 Sep 12.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

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December 2018

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

Eur J Med Genet 2019 Jan 27;62(1):39-43. Epub 2018 Apr 27.

Molecular Genetics and Genomics Laboratory, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address:

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January 2019

Encephalopathy mimicking non-convulsive status Epilepticus.

Neurosciences (Riyadh) 2018 Jan;23(1):52-56

College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. E-mail:

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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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August 2017

Guidelines for acute management of hyperammonemia in the Middle East region.

Ther Clin Risk Manag 2016 31;12:479-87. Epub 2016 Mar 31.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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April 2016

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.

J Autism Dev Disord 2015 Aug;45(8):2323-8

Genetics Department, College of Medicine, Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, PO Box 35, 123, Muscat, Sultanate of Oman.

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August 2015