Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly von Mohamed, Jawahir Y., Faqeih, Eissa, Alsiddiky, Abdulmonem, Alshammari, Muneera J., Ibrahim, Niema A., Alkuraya, Fowzan S.

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Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities von Alrakaf, Laila, Al‐Owain, Mohammed A., Busehail, Maryam, Alotaibi, Maha A., Monies, Dorota, Aldhalaan, Hesham M., Alhashem, Amal, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair A., Murshedi, Fathiya Al, Ani, Nadia Al, Al‐Maawali, Almundher, Ibrahim, Niema A., Abdulwahab, Firdous M., Alsagob, Maysoon, Hashem, Mais O., Ramadan, Wafaa, Abouelhoda, Mohamed, Meyer, Brian F., Kaya, Namik, Maddirevula, Sateesh, Alkuraya, Fowzan S.

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A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene von Çatli, Gönül, Abaci, Ayhan, Anik, Ahmet, Shaneen, Ranad, Tuhan, Hale Ünver, Erçal, Derya, Böber, Ece, Ibrahim, Niema A, Hashem, Mais O, Alkuraya, Fowzan Sami

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A genomics approach to females with infertility and recurrent pregnancy loss von Maddirevula, Sateesh, Awartani, Khalid, Coskun, Serdar, AlNaim, Latifa F., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Alhassan, Saad, Alkuraya, Fowzan S.

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Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2 von Maddirevula, Sateesh, Coskun, Serdar, Alhassan, Saad, Elnour, Atif, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous, Arold, Stefan T., Alkuraya, Fowzan S.

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Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants von Maddirevula, Sateesh, Alhebbi, Hamoud, Alqahtani, Awad, Algoufi, Talal, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous, Barr, Mohammed, Alzaidan, Hamad, Almehaideb, Ali, AlSasi, Omai, Alhashem, Amal, Hussaini, Hussa Al, Wali, Sami, Alkuraya, Fowzan S.

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A genomics approach to male infertility von Alhathal, Naif, Maddirevula, Sateesh, Coskun, Serdar, Alali, Hamed, Assoum, Mirna, Morris, Thomas, Deek, Hesham A., Hamed, Soha A., Alsuhaibani, Shaheed, Mirdawi, Abdulmalik, Ewida, Nour, Al-Qahtani, Mashael, Ibrahim, Niema, Abdulwahab, Firdous, Altaweel, Waleed, Dasouki, Majed J., Assiri, Abdullah, Qabbaj, Wafa, Alkuraya, Fowzan S.

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The genetic landscape of familial congenital hydrocephalus von 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.

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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 S.

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The morbid genome of ciliopathies: an update von Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S.

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An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia von Shamseldin, Hanan E., Al Mogarri, Ibrahim, Alqwaiee, Mansour M., Alharbi, Adel S., Baqais, Khaled, AlSaadi, Muslim, AlAnzi, Talal, Alhashem, Amal, Saghier, Afaf, Ameen, Waleed, Ibrahim, Niema, Yang, Jason, Abdulwahab, Firdous, Hashem, Mais, Chivukula, Raghu R., 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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Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation von Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Shaheen, Ranad, Arold, Stefan T., Alkuraya, Fowzan S.

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development von Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S

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CNP deficiency causes severe hypomyelinating leukodystrophy in humans von Al-Abdi, Lama, Al Murshedi, Fathiya, Elmanzalawy, Alaa, Al Habsi, Asila, Helaby, Rana, Ganesh, Anuradha, Ibrahim, Niema, Patel, Nisha, 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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Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans von 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.

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Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans von Seidahmed, Mohammed Zain, Al-Kindi, Adila, Alsaif, Hessa S., Miqdad, Abeer, Alabbad, Nasser, Alfifi, Abdallah, Abdelbasit, Omer Bashir, Alhussein, Khalid, Alsamadi, Abdulmohsen, Ibrahim, Niema, Al-Futaisi, Amna, Al-Maawali, Almundher, 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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