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
Mohamed H. Al‐Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha Alnemer, Nada Alsahan, Maisoon Almugbel, Rafiullah Rafiullah, Mirna Assoum, Dorota Monies, Zeeshan Shah, Zuhair Rahbeeni, Nada Derar, Fahad Hakami, Gawaher Almutairi, Afaf AlOtaibi, Wafaa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, Bashayer Saeed, Hanifa Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, Samia Hagos, Hadeel Elbardisy, Asma Akilan, Nora Almuhana, Abrar AlKhalifah, Mohamed Abouelhoda, Khushnooda Ramzan, John A. Sayer, Faiqa Imtiaz
Topics & Concepts
Exome sequencingBiologyGeneticsPrenatal diagnosisCiliopathyHuman geneticsPopulationGenetic heterogeneityPhenotypeFetusGenePregnancyMedicineEnvironmental healthPrenatal Screening and DiagnosticsRenal and related cancersGenomic variations and chromosomal abnormalities