Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study von Alshamlani, Lamia K, Alsulaim, Dana S, Alabbad, Raghad S, Alhoshan, Ahad A, Alkhoder, Joud F, Alsaleh, Norah S, Almannai, Mohammed, Ababneh, Faroug, Algattan, Manal, Alsini, Lojain, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M, Al Mutairi, Fuad, Umair, Muhammad, Alfadhel, Majid

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Physical mapping of the nail patella syndrome interval at 9q34 : Ordering of STSs and ESTs von EYAID, W. M, CLOUGH, M. V, MCINTOSH, I, ROOT, H, SCOTT, K. M, MCCORMICK, M. K, XUE ZHANG, LISITSYN, N. A, KEARNS, W. G, FRANCOMANO, C. A, RICHARDS, J. E

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Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus von Sparrow, Duncan B., Faqeih, Eissa Ali, Sallout, Bahauddin, Alswaid, Abdulrahman, Ababneh, Faroug, Al-Sayed, Moeenaldeen, Rukban, Hadeel, Eyaid, Wafaa M., Kageyama, Ryoichiro, Ellard, Sian, Turnpenny, Peter D., Dunwoodie, Sally L.

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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome von Currier, Sophie C., Lee, Christine K., Chang, Bernard S., Bodell, Adria L., Pai, G. Shashidhar, Job, Leela, Lagae, Lieven G., Al-Gazali, Lihadh I., Eyaid, Wafaa M., Enns, Greg, Dobyns, William B., Walsh, Christopher A.

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An inborn error of metabolism presenting as hypoxic-ischemic insult von Eyaid, Wafaa M., Al-Nouri, Doha M., Rashed, Mohamed S., Al-Rifai, Muhammad T., Al-Wakeel, Anwar S.

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance von Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu, Simcox, Eve M., Miwa, Satomi, Donti, Taraka, Abu-Amero, Khaled K., Wong, Lee-Jun, Craigen, William J., Graham, Brett H., Scott, Kenneth L., McFarland, Robert, Taylor, Robert W.

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Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome von Manzini, M. Chiara, Tambunan, Dimira E., Hill, R. Sean, Yu, Tim W., Maynard, Thomas M., Heinzen, Erin L., Shianna, Kevin V., Stevens, Christine R., Partlow, Jennifer N., Barry, Brenda J., Rodriguez, Jacqueline, Gupta, Vandana A., Al-Qudah, Abdel-Karim, Eyaid, Wafaa M., Friedman, Jan M., Salih, Mustafa A., Clark, Robin, Moroni, Isabella, Mora, Marina, Beggs, Alan H., Gabriel, Stacey B., Walsh, Christopher A.

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Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield von Anazi, S, Maddirevula, S, Faqeih, E, Alsedairy, H, Alzahrani, F, Shamseldin, H E, Patel, N, Hashem, M, Ibrahim, N, Abdulwahab, F, Ewida, N, Alsaif, H S, Al sharif, H, Alamoudi, W, Kentab, A, Bashiri, F A, Alnaser, M, AlWadei, A H, Alfadhel, M, Eyaid, W, Hashem, A, Al Asmari, A, Saleh, M M, AlSaman, A, Alhasan, K A, Alsughayir, M, Al Shammari, M, Mahmoud, A, Al-Hassnan, Z N, Al-Husain, M, Osama Khalil, R, Abd El.Meguid, N, Masri, A, Ali, R, Ben-Omran, T, El.Fishway, P, Hashish, A, Ercan Sencicek, A, State, M, Alazami, A M, Salih, M A, Altassan, N, Arold, S T, Abouelhoda, M, Wakil, S M, Monies, D, Shaheen, R, Alkuraya, F S

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Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy von Almannai, M., Alasmari, A., Alqasmi, A., Faqeih, E., Al Mutairi, F., Alotaibi, M., Samman, M.M., Eyaid, W., Aljadhai, Y.I., Shamseldin, H.E., Craigen, W., Alkuraya, F.S.

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Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure von Al-Hussaini, Abdulrahman, MD, Faqeih, Eissa, MD, El-Hattab, Ayman W., MD, Alfadhel, Majid, Asery, Ali, MD, Alsaleem, Badr, MD, Bakhsh, Eman, MD, Ali, Ashraf, MD, Alasmari, Ali, MD, Lone, Khurram, MD, Nahari, Ahmed, MD, Eyaid, Wafaa, MD, Al Balwi, Mohammed, MD, Craig, Kate, PhD, Butterworth, Anna, BSc, He, Langping, PhD, Taylor, Robert W., PhD, FRCPath

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Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort von Alharby, Essa, Faqeih, Eissa A., Saleh, Mohammed, Alameer, Seham, Almuntashri, Makki, Pastore, Annalisa, Samman, Manar A., Alnawfal, Abdullah M., Hashem, Mais, Zaytuni, Dimah, Alharbi, Ghadeer, Almannai, Mohammed, Alasmari, Ali, Mahmoud, Adel A., Alwadei, Ali H., Jad, Lamya, AlOtaibi, Ali, Al-Hakami, Fahad, Eyaid, Wafaa, Alkuraya, Fowzan S., Alfadhel, Majid, Peake, Roy W. A., Almontashiri, Naif A. M.

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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome von Walsh, Christopher A, Ferland, Russell J, Eyaid, Wafaa, Collura, Randall V, Tully, Laura D, Hill, R Sean, Al-Nouri, Doha, Al-Rumayyan, Ahmed, Topcu, Meral, Gascon, Generoso, Bodell, Adria, Shugart, Yin Yao, Ruvolo, Maryellen

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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene von Uusimaa, Johanna, Evans, Julie, Smith, Conrad, Butterworth, Anna, Craig, Kate, Ashley, Neil, Liao, Chunyan, Carver, Janet, Diot, Alan, Macleod, Lorna, Hargreaves, Iain, Al-Hussaini, Abdulrahman, Faqeih, Eissa, Asery, Ali, Al Balwi, Mohammed, Eyaid, Wafaa, Al-Sunaid, Areej, Kelly, Deirdre, van Mourik, Indra, Ball, Sarah, Jarvis, Joanna, Mulay, Arundhati, Hadzic, Nedim, Samyn, Marianne, Baker, Alastair, Rahman, Shamima, Stewart, Helen, Morris, Andrew Am, Seller, Anneke, Fratter, Carl, Taylor, Robert W, Poulton, Joanna

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Drug treatment of inborn errors of metabolism: a systematic review von Alfadhel, Majid, Al-Thihli, Khalid, Moubayed, Hiba, Eyaid, Wafaa, Al-Jeraisy, Majed

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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients von Williams, M, Valayannopoulos, V, Altassan, R, Chung, W K, Heijboer, A C, Keng, W T, Lapatto, R, McClean, P, Mulder, M F, Tylki-Szymańska, A, Walenkamp, M J E, Alfadhel, M, Alakeel, H, Salomons, G S, Eyaid, W, Wamelink, M M C

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis von Shintaku, Jonathan, Pernice, Wolfgang M, Eyaid, Wafaa, Gc, Jeevan B, Brown, Zuben P, Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W, Hellebrekers, Debby Mei, Blakely, Emma L, Donaldson, Alan, van de Laar, Ingrid Mbh, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A, Rodenburg, Richard J, Chinnery, Patrick F, Smeets, H J M, Gorman, Gráinne S, Bonnen, Penelope E, Taylor, Robert W, Hirano, Michio

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis von Shintaku, Jonathan, Pernice, Wolfgang M, Eyaid, Wafaa, Jeevan, B G C, Brown, Zuben P, Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W, Hellebrekers, Debby Mei, Blakely, Emma L, Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A, Rodenburg, Richard J, Chinnery, Patrick F, Smeets, H J M, Gorman, Gráinne S, Bonnen, Penelope E, Taylor, Robert W, Hirano, Michio

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Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D von Shaheen, R., Al-Owain, M., Khan, A.O., Zaki, M.S., Hossni, H.A.A., Al-Tassan, R., Eyaid, W., Alkuraya, F.S.

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Identification and functional analysis of a defect in the human ALG9 gene: Definition of congenital disorder of glycosylation type IL von FRANK, Christian G, GRUBENMANN, Claudia E, EYAID, Wafaa, BERGER, Eric G, AEBI, Markus, HENNET, Thierry

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Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients von McIntosh, Iain, Dreyer, Sandra D., Clough, Mark V., Dunston, Jennifer A., Eyaid, Wafa'a, Roig, Carmen M., Montgomery, Tara, Ala-Mello, Sirpa, Kaitila, Ilkka, Winterpacht, Andreas, Zabel, Bernhard, Frydman, Moshe, Cole, William G., Francomano, Clair A., Lee, Brendan

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