Applying Whole Exome Sequencing in a Consanguineous Population with Autism Spectrum Disorder

Authors: Al-Mamari, Watfa, Idris, Ahmed B., Al-Thihli, Khalid, Abdulrahim, Reem, Jalees, Saquib, Al-Jabri, Muna, Gabr, Ahlam, Al Murshedi, Fathiya, Al Kindy, Adila, Al-Hadabi, Intisar, Bruwer, Zandrè, Islam, M. Mazharul, Alsayegh, Abeer

Source: International Journal of Developmental Disabilities. 2023 69(2):190-200.

Peer Reviewed: Y

Page Count: 11

Descriptors: Autism Spectrum Disorders, Genetics, Children, Etiology, Clinical Diagnosis, Symptoms (Individual Disorders)

Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice

Authors: Yuan, Taolin ^{1, 16}, Kumar, Surinder ^{2, 3, 16}, Skinner, Mary E. ^{3, 12}, Victor-Joseph, Ryan ^{3, 13}, Abuaita, Majd ^{3, 14}, Keijer, Jaap ¹, Zhang, Jessica ², Kunkel, Thaddeus J. ³, Liu, Yanghan ^{4, 15}, Petrunak, Elyse M. ⁵, Saunders, Thomas L. ⁶, Lieberman, Andrew P. ³, Stuckey, Jeanne A. ⁵, Neamati, Nouri ⁴, Al-Murshedi, Fathiya ⁷, Alfadhel, Majid ^{8, 9}, Spelbrink, Johannes N. ¹⁰, Rodenburg, Richard ¹⁰, de Boer, Vincent C.J. ^{1, ∗}, Lombard, David B. ^{2, 3, 11, 17, ∗∗}

Source: In iScience 21 June 2024 27(6)

Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges

Authors: Al-Busaidi, Salim Ahmed, Al Nou'mani, Jawaher Al, Al-Falahi, Zubaida, Al-Farsi, Rajaa, Kumar, Suneel, Al-Murshedi, Fathiya, Awlad-Thani, Kathiya, Al Nabhani, Ayda, Al Alawi, Abdullah M.

Source: Clinical biochemistry. 116:16-19

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Authors: Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O'Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O'Connell, Mitchell R.

Source: American journal of human genetics. 109(4):587-600

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Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome

Authors: Esveld, Selma L., Rodenburg, Richard J., Al‐Murshedi, Fathiya, Al‐Ajmi, Eiman, Al‐Zuhaibi, Sana, Huynen, Martijn A., Spelbrink, Johannes N.

Source: Journal of inherited metabolic disease. 45(2):292-307

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Further phenotypic delineation of Alazami syndrome

Authors: Al‐Hinai, Abdulhamid, Al‐Hashmi, Samiya, Ganesh, Anuradha, Al‐Hashmi, Nadia, Al‐Saegh, Abeer, Al‐Mamari, Watfa, Al‐Murshedi, Fathiya, Al‐Thihli, Khalid, Al‐Kindi, Adila, Al‐Maawali, Almundher

Source: American journal of medical genetics.Part A. 188(8):2485-2490

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155931809.0x000001&indx=1&recIds=ETOCvdc_100155931809.0x000001

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

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

Source: In Pediatric Neurology July 2019 96:40-47

CNP deficiency causes severe hypomyelinating leukodystrophy in humans

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

Source: Human genetics. 139(5):615-622

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

Source: Acta neuropathologica. 139(3):415-442

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A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.

Authors: Al‐Thihli, Khalid, Al Hashmi, Nadia, Al Balushi, Aaisha, Al‐Habsi, Asila, Al‐Ajmi, Eiman, Al‐Jasmi, Fatma, Al‐Murshedi, Fathiya

Source: Journal of Inherited Metabolic Disease Reports; Jul2024, Vol. 65 Issue 4, p226-232, 7p

Transient response to high‐dose niacin therapy in a patient with NAXE deficiency.

Authors: Al‐Amrani, Fatema, Al‐Thihli, Khalid, Al‐Ajmi, Eiman, Al‐Futaisi, Amna, Al‐Murshedi, Fathiya

Source: Journal of Inherited Metabolic Disease Reports; Jul2024, Vol. 65 Issue 4, p212-225, 14p

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

Authors: Al-Murshedi, Fathiya, Meftah, Douja, Scott, Patrick

Source: In European Journal of Medical Genetics January 2019 62(1):39-43

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Authors: Al-Kasbi, Ghalia¹ (AUTHOR), Al-Murshedi, Fathiya^1,2 (AUTHOR), Al-Kindi, Adila^1,2 (AUTHOR), Al-Hashimi, Nadia³ (AUTHOR), Al-Thihli, Khalid^1,2 (AUTHOR), Al-Saegh, Abeer^1,2 (AUTHOR), Al-Futaisi, Amna⁴ (AUTHOR), Al-Mamari, Watfa⁴ (AUTHOR), Al-Asmi, Abdullah⁵ (AUTHOR), Bruwer, Zandre² (AUTHOR), Al-Kharusi, Khalsa² (AUTHOR), Al-Rashdi, Samiya¹ (AUTHOR), Zadjali, Fahad⁶ (AUTHOR), Al-Yahyaee, Said¹ (AUTHOR), Al-Maawali, Almundher^1,2 (AUTHOR) almaawali@squ.edu.om

Source: Scientific Reports. 11/7/2022, Vol. 12 Issue 1, p1-12. 12p.

Subject Terms: *INTELLECTUAL disabilities, *GENES, *DISABILITY studies, *MOTOR ability, *NEURAL development

Facilitating intrafamily communication to enable earlier diagnosis of Fabry disease in relatives: Expert opinion

Authors: Germain, Dominique P., Al Murshedi, Fathiya, Al Jasmi, Fatma, Altarescu, Gheona, Azevedo, Olga, Barreto, Fellype C., Ezgu, Fatih, Laney, Dawn A., Moiseev, Sergey, Nochioka, Kotaro, Ouyang, Yan, Onay, Huseyin, Pavlou, Mary, Pachter, Nicholas, Politei, Juan, Sunbul, Rawda, Steeds, Rick, Yu, Wen-Chung, West, Michael L., Maski, Manish, Maksimova, Irina

Source: In Molecular Genetics and Metabolism February 2024 141(2)

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

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

Source: Clinical genetics. 94(6):495-501

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

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

Source: Journal of Autism and Developmental Disorders. Aug 2015 45(8):2323-2328.

Peer Reviewed: Y

Page Count: 6

Descriptors: Autism, Pervasive Developmental Disorders, Children, Genetic Disorders, Genetics, Foreign Countries

Geographic Terms: Oman

Correction to: Expanding the genetic heterogeneity of intellectual disability

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

Source: Human genetics. 137(1):105-109

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125870734.0x000001&indx=1&recIds=ETOCvdc_100125870734.0x000001

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

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

Source: Brain. 140(3):547-554

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Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder

Authors: Westrip, Christian A.E., Paul, Franziska, Al-Murshedi, Fathiya, Qaitoon, Hashim, Cham, Breana, Fletcher, Sally C., Hendrix, Eline, Boora, Uncaar, Ng, Alvin Yu Jin, Bonnard, Carine, Najafi, Maryam, Alawbathani, Salem, Lambert, Imelda, Fox, Gabriel, Venkatesh, Byrappa, Bertoli-Avella, Aida, Tan, Ee Shien, Al-Maawali, Almundher, Reversade, Bruno, Coleman, Mathew L.

Source: In Genetics in Medicine September 2023 25(9)

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

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

Source: Journal of obstetrics and gynaecology Canada. 41(4):492-494

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