Publications by authors named "Fathiya Al-Murshedi"

26Publications

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

Authors:
Fathiya Al-Murshedi Hassan Mirza Abeer Al-Saegh Maryam Al-Nabhani Saud Al-Shabibi Saleh Baawain Amna Al-Futaisi Wafaa Al-Shehhi Almundher Al-Maawali

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.

Authors:
Naema Al Shibli Almundher Al-Maawali Alaa Elmanzalawy Maryam Al-Nabhani Roshan Koul Ahlam Gabr Fathiya Al Murshedi

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.

Authors:
Lama Al-Abdi Fathiya Al Murshedi Alaa Elmanzalawy Asila Al Habsi Rana Helaby Anuradha Ganesh Niema Ibrahim Nisha Patel Fowzan S Alkuraya

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.

Authors:
Elena Perenthaler Anita Nikoncuk Soheil Yousefi Woutje M Berdowski Maysoon Alsagob Ivan Capo Herma C van der Linde Paul van den Berg Edwin H Jacobs Darija Putar Mehrnaz Ghazvini Eleonora Aronica Wilfred F J van IJcken Walter G de Valk Evita Medici-van den Herik Marjon van Slegtenhorst Lauren Brick Mariya Kozenko Jennefer N Kohler Jonathan A Bernstein Kristin G Monaghan Amber Begtrup Rebecca Torene Amna Al Futaisi Fathiya Al Murshedi Renjith Mani Faisal Al Azri Erik-Jan Kamsteeg Majid Mojarrad Atieh Eslahi Zaynab Khazaei Fateme Massinaei Darmiyan Mohammad Doosti Ehsan Ghayoor Karimiani Jana Vandrovcova Faisal Zafar Nuzhat Rana Krishna K Kandaswamy Jozef Hertecant Peter Bauer Mohammed A AlMuhaizea Mustafa A Salih Mazhor Aldosary Rawan Almass Laila Al-Quait Wafa Qubbaj Serdar Coskun Khaled O Alahmadi Muddathir H A Hamad Salem Alwadaee Khalid Awartani Anas M Dababo Futwan Almohanna Dilek Colak Mohammadreza Dehghani Mohammad Yahya Vahidi Mehrjardi Murat Gunel A Gulhan Ercan-Sencicek Gouri Rao Passi Huma Arshad Cheema Stephanie Efthymiou Henry Houlden Aida M Bertoli-Avella Alice S Brooks Kyle Retterer Reza Maroofian Namik Kaya Tjakko J van Ham Tahsin Stefan Barakat

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.

Authors:
Mohammed Almannai Rana Felemban Mohammed A Saleh Eissa A Faqeih Ali Alasmari Amal AlHashem Sarar Mohamed Rawda Sunbul Fathiya Al-Murshedi Khalid AlThihli Wafaa Eyaid Rehab Ali Tawfeg Ben-Omran Nenad Blau Ayman W El-Hattab Majid Alfadhel

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.

Authors:
Shashi Kiran Fathiya Al Murshedi Sheikha Al Jabri Meka Nirmala Devi

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.

Authors:
Maryam Al-Nabhani Samiya Al-Rashdi Fathiya Al-Murshedi Adila Al-Kindi Khalid Al-Thihli Abeer Al-Saegh Amna Al-Futaisi Watfa Al-Mamari Fahad Zadjali Almundher Al-Maawali

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?

Authors:
Fathiya Al-Murshedi Douja Meftah Patrick Scott

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.

Authors:
Ramachandiran Nandhagopal Fathiya Al-Murshedi Mujahid Al-Busaidi Amna Al-Busaidi

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

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Authors:
Laila Alrakaf Mohammed A Al-Owain Maryam Busehail Maha A Alotaibi Dorota Monies Hesham M Aldhalaan Amal Alhashem Zuhair N Al-Hassnan Zuhair A Rahbeeni Fathiya Al Murshedi Nadia Al Ani Almundher Al-Maawali Niema A Ibrahim Firdous M Abdulwahab Maysoon Alsagob Mais O Hashem Wafaa Ramadan Mohamed Abouelhoda Brian F Meyer Namik Kaya Sateesh Maddirevula Fowzan S Alkuraya

Am J Med Genet A 2018 03 31;176(3):715-721. Epub 2018 Jan 31.

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

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March 2018

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Authors:
Shams Anazi Sateesh Maddirevula Vincenzo Salpietro Yasmine T Asi Saud Alsahli Amal Alhashem Hanan E Shamseldin Fatema AlZahrani Nisha Patel Niema Ibrahim Firdous M Abdulwahab Mais Hashem Nadia Alhashmi Fathiya Al Murshedi Adila Al Kindy Ahmad Alshaer Ahmed Rumayyan Saeed Al Tala Wesam Kurdi Abdulaziz Alsaman Ali Alasmari Selina Banu Tipu Sultan Mohammed M Saleh Hisham Alkuraya Mustafa A Salih Hesham Aldhalaan Tawfeg Ben-Omran Fatima Al Musafri Rehab Ali Jehan Suleiman Brahim Tabarki Ayman W El-Hattab Caleb Bupp Majid Alfadhel Nada Al Tassan Dorota Monies Stefan T Arold Mohamed Abouelhoda Tammaryn Lashley Henry Houlden Eissa Faqeih Fowzan S Alkuraya

Hum Genet 2018 01;137(1):105-109

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

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January 2018

Expanding the genetic heterogeneity of intellectual disability.

Authors:
Shams Anazi Sateesh Maddirevula Vincenzo Salpietro Yasmine T Asi Saud Alsahli Amal Alhashem Hanan E Shamseldin Fatema AlZahrani Nisha Patel Niema Ibrahim Firdous M Abdulwahab Mais Hashem Nadia Alhashmi Fathiya Al Murshedi Adila Al Kindy Ahmad Alshaer Ahmed Rumayyan Saeed Al Tala Wesam Kurdi Abdulaziz Alsaman Ali Alasmari Selina Banu Tipu Sultan Mohammed M Saleh Hisham Alkuraya Mustafa A Salih Hesham Aldhalaan Tawfeg Ben-Omran Fatima Al Musafri Rehab Ali Jehan Suleiman Brahim Tabarki Ayman W El-Hattab Caleb Bupp Majid Alfadhel Nada Al Tassan Dorota Monies Stefan T Arold Mohamed Abouelhoda Tammaryn Lashley Henry Houlden Eissa Faqeih Fowzan S Alkuraya

Hum Genet 2017 11 22;136(11-12):1419-1429. Epub 2017 Sep 22.

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

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November 2017

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.

Authors:
Zandrè Bruwer Nihal Al Riyami Tamima Al Dughaishi Fathiya Al Murshedi Abeer Al Sayegh Adila Al Kindy Douja Meftah Khalsa Al Kharusi Amel Al Foori Naeema Al Yarubi Patrick Scott Khalid Al-Thihli

J Perinat Med 2018 Nov;46(9):968-974

Department of Genetics, Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Sultanate ofOman.

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November 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

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.

Authors:
Fabian Baertling Fathiya Al-Murshedi Laura Sánchez-Caballero Khalfan Al-Senaidi Niranjan P Joshi Hanka Venselaar Mariël Am van den Brand Leo Gj Nijtmans Richard Jt Rodenburg

Hum Mutat 2017 06 23;38(6):692-703. Epub 2017 Mar 23.

Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.

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June 2017

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

Authors:
Mustafa Y Ahmed Aisha Al-Khayat Fathiya Al-Murshedi Amna Al-Futaisi Barry A Chioza J Pedro Fernandez-Murray Jay E Self Claire G Salter Gaurav V Harlalka Lettie E Rawlins Sana Al-Zuhaibi Faisal Al-Azri Fatma Al-Rashdi Amaury Cazenave-Gassiot Markus R Wenk Fatema Al-Salmi Michael A Patton David L Silver Emma L Baple Christopher R McMaster Andrew H Crosby

Brain 2017 03;140(3):547-554

Medical Research (Level 4), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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March 2017

Recurrent episodes of stroke in a young adult: question.

Authors:
Ramachandiran Nandhagopal Fathiya Al-Murshedi Stefan Weiss Douglas Friday

J Clin Neurosci 2016 Feb;24:123, 170

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February 2016

Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease.

Authors:
Patrick Scott Zandre Bruwer Khalsa Al-Kharusi Douja Meftah Fathiya Al-Murshedi

Oman Med J 2016 May;31(3):227-30

Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.

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May 2016

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

Authors:
Majid Alfadhel Fuad Al Mutairi Nawal Makhseed Fatma Al Jasmi Khalid Al-Thihli Emtithal Al-Jishi Moeenaldeen AlSayed Zuhair N Al-Hassnan Fathiya Al-Murshedi Johannes Häberle Tawfeg Ben-Omran

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.

Authors:
Watfa Al-Mamari Abeer Al-Saegh Adila Al-Kindy Zandre Bruwer Fathiya Al-Murshedi Khalid Al-Thihli

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