The genetic landscape of familial congenital hydrocephalus
Shaheen, Ranad, Sebai, Mohammed Adeeb, Patel, Nisha, Ewida, Nour, Kurdi, Wesam, Altweijri, Ikhlass, Sogaty, Sameera, Almardawi, Elham, Seidahmed, Mohammed Zain, Alnemri, Abdulrahman, Madirevula, Sateesh, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Sallout, Bahauddin, AlBaqawi, Badi, AlAali, Wajeih, Ajaji, Nouf, Lesmana, Harry, Hopkin, Robert J., Dupuis, Lucie, Mendoza‐Londono, Roberto, Al Rukban, Hadeel, Yoon, Grace, Faqeih, Eissa, Alkuraya, Fowzan S.
Published in Annals of neurology (01.06.2017)
Published in Annals of neurology (01.06.2017)
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Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
Shaheen, Ranad, Alsahli, Saud, Ewida, Nour, Alzahrani, Fatema, Shamseldin, Hanan E., Patel, Nisha, Al Qahtani, Awad, Alhebbi, Homoud, Alhashem, Amal, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Abouelhoda, Mohamed, Monies, Dorota, Al‐Hussaini, Abdulrahman, Alzouman, Muneerah A., Shagrani, Mohammad, Faqeih, Eissa, Alkuraya, Fowzan S.
Published in Hepatology (Baltimore, Md.) (01.06.2020)
Published in Hepatology (Baltimore, Md.) (01.06.2020)
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Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34
Shaheen, Ranad, Mark, Paul, Prevost, Christopher T., AlKindi, Adila, Alhag, Ahmad, Estwani, Fatima, Al‐Sheddi, Tarfa, Alobeid, Eman, Alenazi, Mona M., Ewida, Nour, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Bryant, Emily M., Spinelli, Egidio, Millichap, John, Barnett, Sarah S., Kearney, Hutton M., Accogli, Andrea, Scala, Marcello, Capra, Valeria, Nigro, Vincenzo, Fu, Dragony, Alkuraya, Fowzan S.
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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The many faces of peroxisomal disorders: Lessons from a large Arab cohort
Alshenaifi, Jumanah, Ewida, Nour, Anazi, Shams, Shamseldin, Hanan E., Patel, Nisha, Maddirevula, Sateesh, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Jacob, Minnie, Alhashem, Amal, Alzaidan, Hamad I., Seidahmed, Mohammed Z., Alhashemi, Nadia, Rawashdeh, Rifaat, Eyaid, Wafaa, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair, Alswaid, Abdulrahman, Hadid, Adnan, Qari, Alya, Mohammed, Dia A., El Khashab, Heba Y., Alfadhel, Majid, Abanemai, Mohammad, Sunbul, Rawda, Al Tala, Saeed, Alkhalifi, Salwa, Alkharfi, Turki, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, AlDubayan, Saud H., Kurdi, Wesam, Al‐Owain, Mohammed, Dasouki, Majed J., Kentab, Amal Y., Atyani, Suha, Makhseed, Nawal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdel-Salam, Ghada M. H., Sayed, Inas S. M., Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.
Published in Human genetics (01.03.2019)
Published in Human genetics (01.03.2019)
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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Shamseldin, Hanan E, Alshammari, Muneera, Al-Sheddi, Tarfa, Salih, Mustafa A, Alkhalidi, Hisham, Kentab, Amal, Repetto, Gabriela M, Hashem, Mais, Alkuraya, Fowzan S
Published in Journal of medical genetics (01.04.2012)
Published in Journal of medical genetics (01.04.2012)
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Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
Shaheen, Ranad, Faqeih, Eissa, Sunker, Asma, Morsy, Heba, Al-Sheddi, Tarfa, Shamseldin, Hanan E., Adly, Nouran, Hashem, Mais, Alkuraya, Fowzan S.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
Shaheen, Ranad, Jiang, Nan, Alzahrani, Fatema, Ewida, Nour, Al-Sheddi, Tarfa, Alobeid, Eman, Musaev, Damir, Stanley, Valentina, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous, Alshenqiti, Abduljabbar, Sonmez, Fatma Mujgan, Saqati, Nadia, Alzaidan, Hamad, Al-Qattan, Mohammad M., Al-Mohanna, Futwan, Gleeson, Joseph G., Alkuraya, Fowzan S.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
Shaheen, Ranad, Faqeih, Eissa, Shamseldin, Hanan E., Noche, Ramil R., Sunker, Asma, Alshammari, Muneera J., Al-Sheddi, Tarfa, Adly, Nouran, Al-Dosari, Mohammed S., Megason, Sean G., Al-Husain, Muneera, Al-Mohanna, Futwan, Alkuraya, Fowzan S.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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NUP214 deficiency causes severe encephalopathy and microcephaly in humans
Shamseldin, Hanan E., Makhseed, Nawal, Ibrahim, Niema, Al-Sheddi, Tarfa, Alobeid, Eman, Abdulwahab, Firdous, Alkuraya, Fowzan S.
Published in Human genetics (01.03.2019)
Published in Human genetics (01.03.2019)
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ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
Al-Hassnan, Zuhair N, Al-Dosary, Mazhor, Alfadhel, Majid, Faqeih, Eissa A, Alsagob, Maysoon, Kenana, Rosan, Almass, Rawan, Al-Harazi, Olfat S, Al-Hindi, Hindi, Malibari, Omhani I, Almutari, Faten B, Tulbah, Sahar, Alhadeq, Faten, Al-Sheddi, Tarfa, Alamro, Rana, AlAsmari, Ali, Almuntashri, Makki, Alshaalan, Hesham, Al-Mohanna, Futwan A, Colak, Dilek, Kaya, Namik
Published in Journal of medical genetics (01.03.2015)
Published in Journal of medical genetics (01.03.2015)
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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay
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
Published in American journal of human genetics (03.10.2013)
Published in American journal of human genetics (03.10.2013)
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