A discarded synonymous variant in <i>NPHP3</i> explains nephronophthisis and congenital hepatic fibrosis in several familiesEric Olinger, John A. Sayer, Khawla A. Rahim et al.|Human Mutation|2021Cited by 21
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patientsIntisar Al Alawi, John A. Sayer, Mohamed S. Al Riyami et al.|F1000Research|2021Cited by 6
Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney FailureIntisar Al Alawi, John A. Sayer, Laura Powell et al.|Frontiers in Genetics|2021Cited by 6
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patientsIntisar Al Alawi, John A. Sayer, Mohamed S. Al Riyami et al.|F1000Research|2021Cited by 4
POS-428 A NOVEL IN-FRAME DELETION OF GLIS2 LEADING TO NEPHRONOPHTHISIS AND EARLY END STAGE KIDNEY DISEASEIntisar Al Alawi, John A. Sayer, Sarah J. Rice et al.|Kidney International Reports|2022Cited by 0