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

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Title: Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations.
Authors: 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.
Source: 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.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations.
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  Data: <searchLink fieldCode="AU" term="%22Maddirevula+S%22">Maddirevula S</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Shagrani+M%22">Shagrani M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ji+AR%22">Ji AR</searchLink>; Translational Medicine Research Program, The Hospital for Sick Children, Toronto, ON, Canada; The Centre for Phenogenomics, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Horne+CR%22">Horne CR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Young+SN%22">Young SN</searchLink>; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Mather+LJ%22">Mather LJ</searchLink>; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Alqahtani+M%22">Alqahtani M</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22McKerlie+C%22">McKerlie C</searchLink>; Translational Medicine Research Program, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Wood+G%22">Wood G</searchLink>; Department of Pathobiology, University of Guelph, Guelph, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Potter+PK%22">Potter PK</searchLink>; Department of Biomedical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Abdulwahab+F%22">Abdulwahab F</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22AlSheddi+T%22">AlSheddi T</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22van+der+Woerd+WL%22">van der Woerd WL</searchLink>; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Gassen+KLI%22">van Gassen KLI</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22AlBogami+D%22">AlBogami D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kumar+K%22">Kumar K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Muhammad+Akhtar+AS%22">Muhammad Akhtar AS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Binomar+H%22">Binomar H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Almanea+H%22">Almanea H</searchLink>; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Faqeih+E%22">Faqeih E</searchLink>; Section of Medical Genetics, Department of Pediatric Subspecialties, Children Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Fuchs+SA%22">Fuchs SA</searchLink>; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Scott+JW%22">Scott JW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Murphy+JM%22">Murphy JM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101231. <i>Date of Electronic Publication: </i>2024 Aug 09.
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