Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients

Authors: Al‐Hamed, Mohamed H., Hussein, Maged H., Shah, Yaser, Al‐Mojalli, Hamad, Alsabban, Essam, Alshareef, Turki, Altayyar, Ali, Elshouny, Samir, Ali, Wafaa, Abduljabbar, Mai, AlOtaibi, Afaf, AlShammasi, Amal, Akili, Rana, Abouelhoda, Mohamed, Sayer, John A., Dasouki, Majed J., Imtiaz, Faiqa

Source: Human mutation. 43(12):e24-e37

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168379671.0x000001&indx=1&recIds=ETOCvdc_100168379671.0x000001

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