Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

Authors: Hildebrandt, Clara C., Patel, Nisha, Graham, John M., Bamshad, Michael, Nickerson, Deborah A., White, Janson J., Marvin, Colby T., Miller, Danny E., Grand, Katheryn L., Sanchez‐Lara, Pedro A., Schweitzer, Daniela, Al‐Zaidan, Hamad I., Al Masseri, Zainab, Alkuraya, Fowzan S., Lin, Angela E.

Source: American journal of medical genetics.Part A. 185(7):2136-2149

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122551832.0x000001&indx=1&recIds=ETOCvdc_100122551832.0x000001

Further delineation of MYO18B‐related autosomal recessive Klippel‐Feil syndrome with myopathy and facial dysmorphism

Authors: Altuame, Fadie D., Haldeman‐Englert, Chad, Cupler, Edward, Al Muhaizea, Mohammad A., Al‐Zaidan, Hamad I., Hashem, Mais, Alkuraya, Fowzan S.

Source: American journal of medical genetics.Part A. 185(2):370-376

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187345431.0x000001&indx=1&recIds=ETOCvdc_100187345431.0x000001

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

Authors: Aldosary, Mazhor, Al-Bakheet, AlBandary, Al-Dhalaan, Hesham, Almass, Rawan, Alsagob, Maysoon, Al-Younes, Banan, AlQuait, Laila, Mustafa, Osama Mufid, Bulbul, Mustafa, Rahbeeni, Zuhair, Alfadhel, Majid, Chedrawi, Aziza, Al-Hassnan, Zuhair, AlDosari, Mohammed, Al-Zaidan, Hamad, Al-Muhaizea, Mohammad A., AlSayed, Moeenaldeen D., Salih, Mustafa A., AlShammari, Mai, Faiyaz-Ul-Haque, Muhammad, Chishti, Mohammad Azhar, Al-Harazi, Olfat, Al-Odaib, Ali, Kaya, Namik, Colak, Dilek

Source: Omics. 24(3):160-171

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100100327225.0x000001&indx=1&recIds=ETOCvdc_100100327225.0x000001

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Authors: Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Al Mutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen

Source: In Molecular Genetics and Metabolism Reports March 2019 18:22-29

Optic neuropathy in classical methylmalonic acidemia

Authors: AlOwain, Mohammed, Khalifa, Ola Ali, Al Sahlawi, Zahra, Hussein, Maged H, Sulaiman, Raashda A, Al-Sayed, Moeen, Rahbeeni, Zuhair, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Nezzar, Hachemi, Al Homoud, Iftetah, Eldali, Abdelmoneim, Altonen, Brian, Handoom, Bedour S, Mbekeani, Joyce N

Source: Ophthalmic genetics. 40(4):313-322

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100089530366.0x000001&indx=1&recIds=ETOCvdc_100089530366.0x000001

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Authors: Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen

Source: In Molecular Genetics and Metabolism Reports June 2017 11:17-23

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Authors: Patel, Nisha, Aldahmesh, Mohammed A., Alkuraya, Hisham, Anazi, Shamsa, Alsharif, Hadeel, Khan, Arif O., Sunker, Asma, Al-mohsen, Saleh, Abboud, Emad B., Nowilaty, Sawsan R., Alowain, Mohammed, Al-Zaidan, Hamad, Al-Saud, Bandar, Alasmari, Ali, Abdel-Salam, Ghada M.H., Abouelhoda, Mohamed, Abdulwahab, Firdous M., Ibrahim, Niema, Naim, Ewa, Al-Younes, Banan, E. AlMostafa, Abeer, AlIssa, Abdulelah, Hashem, Mais, Buzovetsky, Olga, Xiong, Yong, Monies, Dorota, Altassan, Nada, Shaheen, Ranad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

Source: In Genetics in Medicine June 2016 18(6):554-562

Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia

Authors: Balobaid, Ameera, Qari, Alya, Al-Zaidan, Hamad

Source: In International Journal of Pediatrics and Adolescent Medicine March 2016 3(1):1-6

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature

Authors: Khalifa, Ola, Al-Sahlawi, Zahra, Imtiaz, Faiqa, Ramzan, Khushnooda, Allam, Rabab, Al-Mostafa, Abeer, Abdel-Fattah, Maaly, Abuharb, Gheid, Nester, Michael, Verloes, Alain, Al-Zaidan, Hamad

Source: In European Journal of Medical Genetics May 2015 58(5):293-299

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Authors: Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.

Source: Annals of neurology. 82(6):1004-1015

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100096008800.0x000001&indx=1&recIds=ETOCvdc_100096008800.0x000001

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

Authors: Kaya, Namik, Al-Owain, Mohammad, AlBakheet, AlBandary, Colak, Dilek, Al-Odaib, Ali, Imtiaz, Faiqa, Coskun, Serdar, Al-Sayed, Moeenaldeen, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Meyer, Brian, Ozand, Pinar

Source: In European Journal of Medical Genetics 2008 51(6):558-565

Munchausen syndrome by proxy mimicking as Gaucher disease.

Authors: Al-Owain, Mohammed¹ alowain@kfshrc.edu.sa, Al-Zaidan, Hamad¹, Al-Hashem, Amal¹, Kattan, Hoda², Al-Dowaish, Abdullah²

Source: European Journal of Pediatrics. Aug2010, Vol. 169 Issue 8, p1029-1032. 4p. 1 Diagram, 1 Chart.

Subject Terms: *MUNCHAUSEN syndrome by proxy, *GAUCHER'S disease, *INFANT diseases, *CHILD abuse, *MOTHER-infant relationship, *CRIMES against children

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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

Authors: Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik

Source: In The American Journal of Human Genetics 3 October 2013 93(4):721-726

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

Authors: Imtiaz, Faiqa, Rashed, Mohamed S., Al-Mubarak, Bashayer, Allam, Rabab, El-Karaksy, Hanaa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Meyer, Brian F., Al-Sayed, Moeen

Source: In Molecular Genetics and Metabolism December 2011 104(4):688-690

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Authors: Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen

Source: JIMD Reports, Volume 29; 2016, p39-46, 8p

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