Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome von Shaheen, Ranad, Faqeih, Eissa, Sunker, Asma, Morsy, Heba, Al-Sheddi, Tarfa, Shamseldin, Hanan E., Adly, Nouran, Hashem, Mais, Alkuraya, Fowzan S.

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Increasing the sensitivity of clinical exome sequencing through improved filtration strategy von Shamseldin, Hanan E., Maddirevula, Sateesh, Faqeih, Eissa, Ibrahim, Niema, Hashem, Mais, Shaheen, Ranad, Alkuraya, Fowzan S.

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics von Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan

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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes von Shamseldin, Hanan E, Alshammari, Muneera, Al-Sheddi, Tarfa, Salih, Mustafa A, Alkhalidi, Hisham, Kentab, Amal, Repetto, Gabriela M, Hashem, Mais, Alkuraya, Fowzan S

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Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy von Shamseldin, Hanan E., Faqeih, Eissa, Alasmari, Ali, Zaki, Maha S., Gleeson, Joseph G., Alkuraya, Fowzan S.

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Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans von 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.

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A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder von Shamseldin, Hanan E, Alasmari, Ali, Salih, Mohammed A, Samman, Manar M, Mian, Shahid A, Alshidi, Tarfa, Ibrahim, Niema, Hashem, Mais, Faqeih, Eissa, Al-Mohanna, Futwan, Alkuraya, Fowzan S

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Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation von Shamseldin, Hanan E, Elfaki, Mohamed, Alkuraya, Fowzan S

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POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism von 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.

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Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia von Wallmeier, Julia, Al-Mutairi, Dalal A, Chen, Chun-Ting, Loges, Niki Tomas, Pennekamp, Petra, Menchen, Tabea, Ma, Lina, Shamseldin, Hanan E, Olbrich, Heike, Dougherty, Gerard W, Werner, Claudius, Alsabah, Basel H, Köhler, Gabriele, Jaspers, Martine, Boon, Mieke, Griese, Matthias, Schmitt-Grohé, Sabina, Zimmermann, Theodor, Koerner-Rettberg, Cordula, Horak, Elisabeth, Kintner, Chris, Alkuraya, Fowzan S, Omran, Heymut

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Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution von Alshammari, Muneera J., Shamseldin, Hanan E., Essbaiheen, Fahad, Eltahir, Sara H., Alruwaili, Ashwag R., Abdulwahab, Firdous, Alkuraya, Fowzan S.

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Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome von Shamseldin, Hanan E., Rajab, Anna, Alhashem, Amal, Shaheen, Ranad, Al-Shidi, Tarfa, Alamro, Rana, Al Harassi, Salma, Alkuraya, Fowzan S.

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Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden von Abouelhoda, Mohamed, Sobahy, Turki, El-Kalioby, Mohamed, Patel, Nisha, Shamseldin, Hanan, Monies, Dorota, Al-Tassan, Nada, Ramzan, Khushnooda, Imtiaz, Faiqa, Shaheen, Ranad, Alkuraya, Fowzan S.

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Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency von Alosaimi, Mohammed F., Hoenig, Manfred, Jaber, Faris, Platt, Craig D., Jones, Jennifer, Wallace, Jacqueline, Debatin, Klaus-Michael, Schulz, Ansgar, Jacobsen, Eva, Möller, Peter, Shamseldin, Hanan E., Abdulwahab, Ferdous, Ibrahim, Niema, Alardati, Hosam, Almuhizi, Faisal, Abosoudah, Ibraheem F., Basha, Talal A., Chou, Janet, Alkuraya, Fowzan S., Geha, Raif S.

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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis von Shamseldin, Hanan E., Derar, Nada, Alzaidan, Hamad, AlHathal, Naif, Alfalah, Abdullah, Abdulwahab, Firdous, Alzaid, Tariq, Alkeraye, Salim, Alobaida, Saud A., Alkuraya, Fowzan S.

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Molecular autopsy in maternal–fetal medicine von Shamseldin, Hanan E, Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, Alkuraya, Fowzan S

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NUP214 deficiency causes severe encephalopathy and microcephaly in humans von Shamseldin, Hanan E., Makhseed, Nawal, Ibrahim, Niema, Al-Sheddi, Tarfa, Alobeid, Eman, Abdulwahab, Firdous, Alkuraya, Fowzan S.

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Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families von Shamseldin, Hanan E, Tulbah, Maha, Kurdi, Wesam, Nemer, Maha, Alsahan, Nada, Al Mardawi, Elham, Khalifa, Ola, Hashem, Amal, Kurdi, Ahmed, Babay, Zainab, Bubshait, Dalal K, Ibrahim, Niema, Abdulwahab, Firdous, Rahbeeni, Zuhair, Hashem, Mais, Alkuraya, Fowzan S

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Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation von Shamseldin, Hanan E, Faden, Maha A, Alashram, Walid, Alkuraya, Fowzan S

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MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy von Broeks, Melissa H., Shamseldin, Hanan E., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Alshedi, Tarfa, Alobaid, Iman, Zwartkruis, Fried, Westland, Denise, Fuchs, Sabine, Verhoeven-Duif, Nanda M., Jans, Judith J. M., Alkuraya, Fowzan S.

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