Fathiya AL-Murshedi

Dr.

  • 403 Citations
  • 9 h-Index
20112019

Research output per year

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Research Output

  • 403 Citations
  • 9 h-Index
  • 25 Article
  • 1 Chapter
  • 1 Abstract
2019

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

Almannai, M., Felemban, R., Saleh, M. A., Faqeih, E. A., Alasmari, A., AlHashem, A., Mohamed, S., Sunbul, R., AL-Murshedi, F., Al-Thihli, K., Eyaid, W., Ali, R., Ben-Omran, T., Blau, N., El-Hattab, A. W. & Alfadhel, M., Jan 1 2019, In : Pediatric Neurology.

Research output: Contribution to journalArticle

Open Access
2018

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

Kiran, S., AL-Murshedi, F., Jabri, S. A. & Devi, M. N., Jan 1 2018, (Accepted/In press) In : Journal of Obstetrics and Gynaecology Canada.

Research output: Contribution to journalArticle

Encephalopathy mimicking non-convulsive status epilepticus

Nandhagopal, R., Al-Murshedi, F., Al-Busaidi, M. & Al-Busaidi, A., Jan 1 2018, In : Neurosciences. 23, 1, p. 52-56 5 p.

Research output: Contribution to journalArticle

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Alrakaf, L., Al-Owain, M. A., Busehail, M., Alotaibi, M. A., Monies, D., Aldhalaan, H. M., Alhashem, A., Al-Hassnan, Z. N., Rahbeeni, Z. A., Murshedi, F. A., Ani, N. A., Al-Maawali, A., Ibrahim, N. A., Abdulwahab, F. M., Alsagob, M., Hashem, M. O., Ramadan, W., Abouelhoda, M., Meyer, B. F., Kaya, N. & 2 others, Maddirevula, S. & Alkuraya, F. S., Mar 1 2018, In : American Journal of Medical Genetics, Part A. 176, 3, p. 715-721 7 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
8 Citations (Scopus)

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

AL-Murshedi, F., Meftah, D. & Scott, P., Jan 1 2018, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2017

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

Ahmed, M. Y., Al-Khayat, A., Al-Murshedi, F., Al-Futaisi, A., Chioza, B. A., Pedro Fernandez-Murray, J., Self, J. E., Salter, C. G., Harlalka, G. V., Rawlins, L. E., Al-Zuhaibi, S., Al-Azri, F., Al-Rashdi, F., Cazenave-Gassiot, A., Wenk, M. R., Al-Salmi, F., Patton, M. A., Silver, D. L., Baple, E. L., McMaster, C. R. & 1 others, Crosby, A. H., Mar 1 2017, In : Brain : a journal of neurology. 140, 3, p. 547-554 8 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Correction to: Expanding the genetic heterogeneity of intellectual disability

Anazi, S., Maddirevula, S., Salpietro, V., Asi, Y. T., Alsahli, S., Alhashem, A., Shamseldin, H. E., AlZahrani, F., Patel, N., Ibrahim, N., Abdulwahab, F. M., Hashem, M., Alhashmi, N., Al Murshedi, F., Al Kindy, A., Alshaer, A., Rumayyan, A., Al Tala, S., Kurdi, W., Alsaman, A. & 23 others, Alasmari, A., Banu, S., Sultan, T., Saleh, M. M., Alkuraya, H., Salih, M. A., Aldhalaan, H., Ben-Omran, T., Al Musafri, F., Ali, R., Suleiman, J., Tabarki, B., El-Hattab, A. W., Bupp, C., Alfadhel, M., Al Tassan, N., Monies, D., Arold, S. T., Abouelhoda, M., Lashley, T., Houlden, H., Faqeih, E. & Alkuraya, F. S., Dec 29 2017, (Accepted/In press) In : Human Genetics. p. 1-5 5 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Expanding the genetic heterogeneity of intellectual disability

Anazi, S., Maddirevula, S., Salpietro, V., Asi, Y. T., Alsahli, S., Alhashem, A., Shamseldin, H. E., AlZahrani, F., Patel, N., Ibrahim, N., Abdulwahab, F. M., Hashem, M., Alhashmi, N., Al Murshedi, F., Al Kindy, A., Alshaer, A., Rumayyan, A., Al Tala, S., Kurdi, W., Alsaman, A. & 23 others, Alasmari, A., Banu, S., Sultan, T., Saleh, M. M., Alkuraya, H., Salih, M. A., Aldhalaan, H., Ben-Omran, T., Al Musafri, F., Ali, R., Suleiman, J., Tabarki, B., El-Hattab, A. W., Bupp, C., Alfadhel, M., Al Tassan, N., Monies, D., Arold, S. T., Abouelhoda, M., Lashley, T., Houlden, H., Faqeih, E. & Alkuraya, F. S., Sep 22 2017, (Accepted/In press) In : Human Genetics. p. 1-11 11 p.

Research output: Contribution to journalArticle

33 Citations (Scopus)

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

Bruwer, Z., Al Riyami, N., Al Dughaishi, T., Al Murshedi, F., Al Sayegh, A., Al Kindy, A., Meftah, D., Al Kharusi, K., Al Foori, A., Al Yarubi, N., Scott, P. & Al-Thihli, K., Aug 19 2017, (Accepted/In press) In : Unknown Journal.

Research output: Contribution to journalArticle

4 Citations (Scopus)

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

Baertling, F., Al-Murshedi, F., Sánchez-Caballero, L., Al-Senaidi, K., Joshi, N. P., Venselaar, H., van den Brand, M. A., Nijtmans, L. G. & Rodenburg, R. J., 2017, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Ocular manifestations of inborn errors of metabolism

Ganesh, A., Al-Murshedi, F., Al-Zuhaibi, S. & Al-Thihli, K., Jan 1 2017, The Eye in Pediatric Systemic Disease. Springer International Publishing, p. 359-460 102 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Citations (Scopus)

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

Monies, D., Abouelhoda, M., AlSayed, M., Alhassnan, Z., Alotaibi, M., Kayyali, H., Al-Owain, M., Shah, A., Rahbeeni, Z., Al-Muhaizea, M. A., Alzaidan, H. I., Cupler, E., Bohlega, S., Faqeih, E., Faden, M., Alyounes, B., Jaroudi, D., Goljan, E., Elbardisy, H., Akilan, A. & 87 others, Albar, R., Aldhalaan, H., Gulab, S., Chedrawi, A., Al Saud, B. K., Kurdi, W., Makhseed, N., Alqasim, T., El Khashab, H. Y., Al-Mousa, H., Alhashem, A., Kanaan, I., Algoufi, T., Alsaleem, K., Basha, T. A., Al-Murshedi, F., Khan, S., Al-Kindy, A., Alnemer, M., Al-Hajjar, S., Alyamani, S., Aldhekri, H., Al-Mehaidib, A., Arnaout, R., Dabbagh, O., Shagrani, M., Broering, D., Tulbah, M., Alqassmi, A., Almugbel, M., AlQuaiz, M., Alsaman, A., Al-Thihli, K., Sulaiman, R. A., Al-Dekhail, W., Alsaegh, A., Bashiri, F. A., Qari, A., Alhomadi, S., Alkuraya, H., Alsebayel, M., Hamad, M. H., Szonyi, L., Abaalkhail, F., Al-Mayouf, S. M., Almojalli, H., Alqadi, K. S., Elsiesy, H., Shuaib, T. M., Seidahmed, M. Z., Abosoudah, I., Akleh, H., AlGhonaium, A., Alkharfy, T. M., Al Mutairi, F., Eyaid, W., Alshanbary, A., Sheikh, F. R., Alsohaibani, F. I., Alsonbul, A., Al Tala, S., Balkhy, S., Bassiouni, R., Alenizi, A. S., Hussein, M. H., Hassan, S., Khalil, M., Tabarki, B., Alshahwan, S., Oshi, A., Sabr, Y., Alsaadoun, S., Salih, M. A., Mohamed, S., Sultana, H., Tamim, A., El-Haj, M., Alshahrani, S., Bubshait, D. K., Alfadhel, M., Faquih, T., El-Kalioby, M., Subhani, S., Shah, Z., Moghrabi, N., Meyer, B. F. & Alkuraya, F. S., Aug 1 2017, In : Human Genetics. 136, 8, p. 921-939 19 p.

Research output: Contribution to journalArticle

68 Citations (Scopus)
2016

Guidelines for acute management of hyperammonemia in the Middle East region

Alfadhel, M., Al Mutairi, F., Makhseed, N., Al Jasmi, F., Al-Thihli, K., Al-Jishi, E., AlSayed, M., Al-Hassnan, Z. N., Al-Murshedi, F., Häberle, J., Ben-Omran, T. & Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG), Mar 31 2016, In : Therapeutics and Clinical Risk Management. 12, p. 479-487 9 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

Occurrence of optic neuritis and cervical cord Schwannoma with Charcot-Marie-tooth type 4B1 disease

Scott, P., Bruwer, Z., Al-Kharusi, K., Meftah, D. & Al-Murshedi, F., May 1 2016, In : Oman Medical Journal. 31, 3, p. 227-230 4 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Recurrent episodes of stroke in a young adult: Question

Nandhagopal, R., Al-Murshedi, F., Weiss, S. & Friday, D., Feb 1 2016, In : Journal of Clinical Neuroscience. 24, p. 123 1 p.

Research output: Contribution to journalArticle

Recurrent episodes of stroke in a young adult: Answer

Nandhagopal, R., Al-Murshedi, F., Weiss, S. & Friday, D., Feb 1 2016, In : Journal of Clinical Neuroscience. 24, p. 170 1 p.

Research output: Contribution to journalArticle

2015
4 Citations (Scopus)

Liver disease and other comorbidities in Wolcott-Rallison syndrome: Different phenotype and variable associations in a large cohort

Habeb, A. M., Deeb, A., Johnson, M., Abdullah, M., Abdulrasoul, M., Al-Awneh, H., Al-Maghamsi, M. S. F., Al-Murshedi, F., Al-Saif, R., Al-Sinani, S., Ramadan, D., Tfayli, H., Flanagan, S. E. & Ellard, S., Apr 24 2015, In : Hormone Research in Paediatrics. 83, 3, p. 190-197 8 p.

Research output: Contribution to journalArticle

12 Citations (Scopus)

Novel mutation in Wolcott–Rallison syndrome with variable expression in two Omani siblings

Al-Sinani, S., Al-Yaarubi, S., Sharef, S. W., Al-Murshedi, F. & Al-Maamari, W., 2015, In : Oman Medical Journal. 30, 2, p. 138-141 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: Expanding the spectrum of PRPS1-related disorders

Al-Maawali, A., Dupuis, L., Blaser, S., Heon, E., Tarnopolsky, M., Al-Murshedi, F., Marshall, C. R., Paton, T., Scherer, S. W., Roelofsen, J., Van Kuilenburg, A. B. P. & Mendoza-Londono, R., Mar 1 2015, In : European Journal of Human Genetics. 23, 3, p. 310-316 7 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)
2014
12 Citations (Scopus)

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 others, Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American Journal of Human Genetics. 95, 3, p. 315-325 11 p.

Research output: Contribution to journalArticle

27 Citations (Scopus)
2013

Clinical spectrum of hereditary spastic paraplegia in children: A study of 74 cases

Koul, R., Al-Murshedi, F. M., Al-Azri, F. M., Mani, R., Abdelrahim, R. A., Koul, V. & Alfutaisi, A. M., Aug 2013, In : Sultan Qaboos University Medical Journal. 13, 3, p. 371-379 9 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)
2011

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Al-Mayouf, S. M., Sunker, A., Abdwani, R., Abrawi, S. A., Almurshedi, F., Alhashmi, N., Al Sonbul, A., Sewairi, W., Qari, A., Abdallah, E., Al-Owain, M., Al Motywee, S., Al-Rayes, H., Hashem, M., Khalak, H., Al-Jebali, L. & Alkuraya, F. S., Dec 2011, In : Nature Genetics. 43, 12, p. 1186-1188 3 p.

Research output: Contribution to journalArticle

166 Citations (Scopus)