Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases by Al-Mousa, Hamoud, MD, Abouelhoda, Mohamed, PhD, Monies, Dorota M., PhD, Al-Tassan, Nada, PhD, Al-Ghonaium, Abdulaziz, MD, Al-Saud, Bandar, MD, Al-Dhekri, Hasan, MD, Arnaout, Rand, MD, Al-Muhsen, Saleh, MD, Ades, Nazema, BN, Elshorbagi, Sahar, MD, Al Gazlan, Sulaiman, MD, Sheikh, Farrukh, MD, Dasouki, Majed, MD, El-Baik, Lina, BSc, Elamin, Tanzeil, MS, Jaber, Amal, BSc, Kheir, Omnia, BPharm, El-Kalioby, Mohamed, MS, Subhani, Shazia, MS, Al Idrissi, Eman, MD, Al-Zahrani, Mofareh, MD, Alhelale, Maryam, MD, Alnader, Noukha, BSc, Al-Otaibi, Afaf, BSc, Kattan, Rana, BSc, Al Abdelrahman, Khalid, BSc, Al Breacan, Muna M., BSc, Bin Humaid, Faisal S., BSc, Wakil, Salma Majid, PhD, Alzayer, Fadi, BSc, Al-Dusery, Haya, BSc, Faquih, Tariq, MS, Al-Hissi, Safa, BSc, Meyer, Brian F., PhD, Hawwari, Abbas, PhD

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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome by Monies, Dorota M, Al-Hindi, Hindi N, Al-Muhaizea, Mohamed A, Jaroudi, Dyala J, Al-Younes, Banan, Naim, Ewa A, Wakil, Salma M, Meyer, Brian F, Bohlega, Saeed

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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families by 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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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis by Wakil, Salma M., Monies, Dorota M., Abouelhoda, Mohamed, Al‐Tassan, Nada, Al‐Dusery, Haya, Naim, Ewa A., Al‐Younes, Banan, Shinwari, Jameela, Al‐Mohanna, Futwan A., Meyer, Brian F., Al‐Mayouf, Sulaiman

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes by 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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Characterizing the morbid genome of ciliopathies by Shaheen, Ranad, Szymanska, Katarzyna, Basu, Basudha, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Al Hashem, Amal, Derar, Nada, Alsharif, Hadeel, Aldahmesh, Mohammed A, Alazami, Anas M, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M, Sonbul, Rawda, Alkuraya, Hisham, Alnemer, Maha, Al Tala, Saeed, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed Zain, Meriki, Neama, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa A, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare V, Parry, David A, Al Tassan, Nada, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Halees, Anason, Johnson, Colin A, Alkuraya, Fowzan S

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Expanding the genetic heterogeneity of intellectual disability by Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population by Goljan, Ewa, Abouelhoda, Mohammed, ElKalioby, Mohamed M, Jabaan, Amjad, Alghithi, Nada, Meyer, Brian F, Monies, Dorota

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SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease by Al-Saud, Bandar, Hazzazi, Khaled M., Mohammed, Reem, Al Najjar, Alaa, Al Hazmi, Tariq, Monies, Dorota, Alkuraya, Fowzan S.

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Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency by Alazami, Anas M, Al-Helale, Maryam, Alhissi, Safa, Al-Saud, Bandar, Alajlan, Huda, Monies, Dorota, Shah, Zeeshan, Abouelhoda, Mohamed, Arnaout, Rand, Al-Dhekri, Hasan, Al-Numair, Nouf S, Ghebeh, Hazem, Sheikh, Farrukh, Al-Mousa, Hamoud

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population by Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Alsaleem, Khalid, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alshareef, Turki, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Alkuraya, Fowzan S.

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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency by Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Tassan, Nada Al, Katsanis, Nicholas, Crowley, William F.

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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome by Sanders, Anna A W M, de Vrieze, Erik, Alazami, Anas M, Alzahrani, Fatema, Malarkey, Erik B, Sorusch, Nasrin, Tebbe, Lars, Kuhns, Stefanie, van Dam, Teunis J P, Alhashem, Amal, Tabarki, Brahim, Lu, Qianhao, Lambacher, Nils J, Kennedy, Julie E, Bowie, Rachel V, Hetterschijt, Lisette, van Beersum, Sylvia, van Reeuwijk, Jeroen, Boldt, Karsten, Kremer, Hannie, Kesterson, Robert A, Monies, Dorota, Abouelhoda, Mohamed, Roepman, Ronald, Huynen, Martijn H, Ueffing, Marius, Russell, Rob B, Wolfrum, Uwe, Yoder, Bradley K, van Wijk, Erwin, Alkuraya, Fowzan S, Blacque, Oliver E

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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders by Bohlega, Saeed A., Abou-Al-Shaar, Hussam, AlDakheel, Amaal, Alajlan, Huda, Bohlega, Balsam S., Meyer, Brian F., Monies, Dorota, Cupler, Edward J., Al-Saif, Amr M.

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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining by Abouelhoda, Mohamed, Mohty, Dania, Alayary, Islam, Meyer, Brian F, Arold, Stefan T, Fadel, Bahaa M, Monies, Dorota

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Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update by Maddirevula, Sateesh, Shamseldin, Hanan E, Sirr, Amy, AlAbdi, Lama, Lo, Russell S, Ewida, Nour, Al-Qahtani, Mashael, Hashem, Mais, Abdulwahab, Firdous, Aboyousef, Omar, Kaya, Namik, Monies, Dorota, Salem, May H, Al Harbi, Naffaa, Aldhalaan, Hesham M, Alzaidan, Hamad, Almanea, Hadeel M, Alsalamah, Abrar K, Al Mutairi, Fuad, Ismail, Samira, Abdel-Salam, Ghada M H, Alhashem, Amal, Asery, Ali, Faqeih, Eissa, AlQassmi, Amal, Al-Hamoudi, Waleed, Algoufi, Talal, Shagrani, Mohammad, Dudley, Aimée M, Alkuraya, Fowzan S

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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking by Sanderson, Leslie E, Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A, Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C, Nikoncuk, Anita, Kühn, Nikolas A, Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A, Binhumaid, Faisal S, Goljan, Ewa, Monies, Dorota, Mustafa, Osama M, Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A, Karimiani, Ehsan Ghayoor, Meyer, Brian F, Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T, Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M, Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J, Kaya, Namik

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Familial Clustering of Juvenile Psoriatic Arthritis Associated with a Hemizygous FOXP3 Mutation by Alzyoud, Raed, Alansari, Shahad, Maaitah, Heba, AlDossari, Haya, Monies, Dorota, Al-Mayouf, Sulaiman M

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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies by Monies, Dorota, Alhindi, Hindi N, Almuhaizea, Mohamed A, Abouelhoda, Mohamed, Alazami, Anas M, Goljan, Ewa, Alyounes, Banan, Jaroudi, Dyala, AlIssa, Abdulelah, Alabdulrahman, Khalid, Subhani, Shazia, El-Kalioby, Mohamed, Faquih, Tariq, Wakil, Salma M, Altassan, Nada A, Meyer, Brian F, Bohlega, Saeed

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Identification of a novel MKS locus defined by TMEM107 mutation by Shaheen, Ranad, Almoisheer, Agaadir, Faqeih, Eissa, Babay, Zainab, Monies, Dorota, Tassan, Nada, Abouelhoda, Mohamed, Kurdi, Wesam, Al Mardawi, Elham, Khalil, Mohamed M I, Seidahmed, Mohammed Zain, Alnemer, Maha, Alsahan, Nada, Sogaty, Samira, Alhashem, Amal, Singh, Ankur, Goyal, Manisha, Kapoor, Seema, Alomar, Rana, Ibrahim, Niema, Alkuraya, Fowzan S

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