Autozygome and high throughput confirmation of disease genes candidacy von Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S.

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes von Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Al-Kindy, Adila, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families von Alazami, Anas M., Patel, Nisha, Shamseldin, Hanan E., Anazi, Shamsa, Al-Dosari, Mohammed S., Alzahrani, Fatema, Hijazi, Hadia, Alshammari, Muneera, Aldahmesh, Mohammed A., Salih, Mustafa A., Faqeih, Eissa, Alhashem, Amal, Bashiri, Fahad A., Al-Owain, Mohammed, Kentab, Amal Y., Sogaty, Sameera, Al Tala, Saeed, Temsah, Mohamad-Hani, Tulbah, Maha, Aljelaify, Rasha F., Alshahwan, Saad A., Seidahmed, Mohammed Zain, Alhadid, Adnan A., Aldhalaan, Hesham, AlQallaf, Fatema, Kurdi, Wesam, Alfadhel, Majid, Babay, Zainab, Alsogheer, Mohammad, Kaya, Namik, Al-Hassnan, Zuhair N., Abdel-Salam, Ghada M.H., Al-Sannaa, Nouriya, Al Mutairi, Fuad, El Khashab, Heba Y., Bohlega, Saeed, Jia, Xiaofei, Nguyen, Henry C., Hammami, Rakad, Adly, Nouran, Mohamed, Jawahir Y., Abdulwahab, Firdous, Ibrahim, Niema, Naim, Ewa A., Al-Younes, Banan, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, Xiong, Yong, Abouelhoda, Mohamed, Aldeeri, Abdulrahman A., Monies, Dorota M., Alkuraya, Fowzan S.

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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome von Chen, Yin-Huai, Grigelioniene, Giedre, Newton, Phillip T, Gullander, Jacob, Elfving, Maria, Hammarsjö, Anna, Batkovskyte, Dominyka, Alsaif, Hessa S, Kurdi, Wesam I Y, Abdulwahab, Firdous, Shanmugasundaram, Veerabahu, Devey, Luke, Bacrot, Séverine, Brodszki, Jana, Huber, Celine, Hamel, Ben, Gisselsson, David, Papadogiannakis, Nikos, Jedrycha, Katarina, Gürtl-Lackner, Barbara, Chagin, Andrei S, Nishimura, Gen, Aschenbrenner, Dominik, Alkuraya, Fowzan S, Laurence, Arian, Cormier-Daire, Valérie, Uhlig, Holm H

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The many faces of peroxisomal disorders: Lessons from a large Arab cohort von 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.

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Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry von Al-Dirbashi, Osama Y., Kurdi, Wesam, Imtiaz, Faiqa, Ahmad, Asmahan M., Al-Sayed, Moeenaldeen, Tulbah, Maha, Al-Nemer, Maha, Rashed, Mohamed S.

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Stable isotope dilution analysis of N-acetylaspartic acid in urine by liquid chromatography electrospray ionization tandem mass spectrometry von Al-Dirbashi, Osama Y., Rashed, Mohamed S., Al-Mokhadab, Manhal A., Al-Qahtani, Khalid, Al-Sayed, Moeen A. A., Kurdi, Wesam

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