Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations.

Autor: Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shagrani M; Pediatric Transplant Gastro & Hepatology, Organ Transplant Centre of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Ji AR; Translational Medicine Research Program, The Hospital for Sick Children, Toronto, ON, Canada; The Centre for Phenogenomics, Toronto, ON, Canada., Horne CR; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Victoria, Australia., Young SN; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Mather LJ; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., McKerlie C; Translational Medicine Research Program, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Wood G; Department of Pathobiology, University of Guelph, Guelph, ON, Canada., Potter PK; Department of Biomedical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlSheddi T; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., van der Woerd WL; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., AlBogami D; Pediatric Transplant Gastro & Hepatology, Organ Transplant Centre of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Kumar K; Pediatric Transplant Gastro & Hepatology, Organ Transplant Centre of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Muhammad Akhtar AS; Pediatric Transplant Gastro & Hepatology, Organ Transplant Centre of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Binomar H; Pediatric Transplant Gastro & Hepatology, Organ Transplant Centre of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Almanea H; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih E; Section of Medical Genetics, Department of Pediatric Subspecialties, Children Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Fuchs SA; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Scott JW; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia; St Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia., Murphy JM; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Victoria, Australia., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101231. Date of Electronic Publication: 2024 Aug 09.