A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis

Authors: Al‐Hamed, Mohamed H., Altuwaijri, Norah, Alsahan, Nada, Ali, Wafaa, Abdulwahab, Firdous, Alzahrani, Fatema, Majrashi, Nada, Alkuraya, Fowzan S.

Source: Clinical genetics. 102(1):61-65

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153643442.0x000001&indx=1&recIds=ETOCvdc_100153643442.0x000001

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Authors: 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, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, 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, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

Molecular autopsy in maternal–fetal medicine

Authors: 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.

Source: In Genetics in Medicine April 2018 20(4):420-427

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

Authors: Al-Hamed, Mohamed H., Alsahan, Nada, Rice, Sarah J., Edwards, Noel, Nooreddeen, Eman, Alotaibi, Maha, Kurdi, Wesam, Alnemer, Maha, Altaleb, Naderah, Ali, Wafa, Al-Numair, Nouf, Almejaish, Najd, Sayer, John A., Imtiaz, Faiqa

Source: Pediatric nephrology. 34(9):1615-1623

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125313084.0x000001&indx=1&recIds=ETOCvdc_100125313084.0x000001

Confirming TBC1D32‐related ciliopathy in humans

Authors: Alsahan, Nada, Alkuraya, Fowzan S.

Source: American journal of medical genetics.Part A. 182(8):1985-1987

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107348646.0x000001&indx=1&recIds=ETOCvdc_100107348646.0x000001

Molecular autopsy in maternal–fetal medicine

Authors: 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

Source: Genetics in medicine. 20(4):420-427

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129949950.0x000001&indx=1&recIds=ETOCvdc_100129949950.0x000001

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.

Authors: Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Edwards, Noel, Ali, Wafaa, Tulbah, Maha, Imtiaz, Faiqa

Source: Genes; Oct2022, Vol. 13 Issue 10, pN.PAG-N.PAG, 8p

Subject Terms: MISSENSE mutation, URINARY organs, DYSPLASIA, HUMAN abnormalities, CONGENITAL disorders, KIDNEY development

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Authors: Al-Hamed, Mohamed H., Kurdi, Wesam, Khan, Rubina, Tulbah, Maha, AlNemer, Maha, AlSahan, Nada, AlMugbel, Maisoon, Rafiullah, Rafiullah, Assoum, Mirna, Monies, Dorota, Shah, Zeeshan, Rahbeeni, Zuhair, Derar, Nada, Hakami, Fahad, Almutairi, Gawaher, AlOtaibi, Afaf, Ali, Wafaa, AlShammasi, Amal, AlMubarak, Wardah, AlDawoud, Samia

Source: Human Genetics; Jan2022, Vol. 141 Issue 1, p101-126, 26p

Subject Terms: FETAL abnormalities, CILIOPATHY, CONSANGUINITY, PRENATAL genetic testing, EXOMES, MOLECULAR diagnosis, PHENOTYPES

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Authors: Shamseldin, Hanan E., AlAbdi, Lama, Maddirevula, Sateesh, Alsaif, Hessa S., Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, Gao, Xin, Molecular Autopsy Consortium, Aldhalaan, Hesham, Alfaifi, Abdullah, Alhashem, Amal, Alhasan, Khalid, Alnemer, Maha, Alsahan, Nada, Alyamani, Suad, Alzaidan, Hamad

Source: Genome Medicine; 10/13/2021, Vol. 13 Issue 1, p1-11, 11p

Subject Terms: SUDDEN death, CAUSES of death, AUTOPSY, POPULATION genetics, LEARNING, HUMAN genome

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

Authors: Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ambusaidi, Qamariya, Ali, Wafaa, Imtiaz, Faiqa

Source: Journal of Nephrology (JNonline); Jun2021, Vol. 34 Issue 3, p893-900, 8p

Novel loss of function variants in FRAS1AND FREM2underlie renal agenesis in consanguineous families

Authors: Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ambusaidi, Qamariya, Ali, Wafaa, Imtiaz, Faiqa

Source: Journal of Nephrology; June 2021, Vol. 34 Issue: 3 p893-900, 8p

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Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Authors: Al-Hamed, Mohamed H.^1,2 (AUTHOR) Hamed@kfshrc.edu.sa, Alsahan, Nada³ (AUTHOR) nalsahan@kfshrc.edu.sa, Tulbah, Maha³ (AUTHOR) mtulbah@kfshrc.edu.sa, Kurdi, Wesam³ (AUTHOR) kurdi@kfshrc.edu.sa, Ali, Wafa'a I.² (AUTHOR), Sayer, John A.^4,5 (AUTHOR) john.sayer@newcastle.ac.uk, Imtiaz, Faiqa^1,2 (AUTHOR) fahmad@kfshrc.edu.sa

Source: Genes. Sep2020, Vol. 11 Issue 9, p967. 1p.

Subject Terms: *FETAL ultrasonic imaging, *FETAL echocardiography, *CONGENITAL heart disease, *FETAL abnormalities, *FACE, *SAUDI Arabians, *DEVELOPMENTAL delay, *EXOMES

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