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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

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Title: The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Authors: Fennell AP; Monash Genetics, Monash Health, Melbourne, Australia.; Clinical Genetics Service, Austin Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Baxter AE; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia., Ellaway CJ; Paediatrics North, Sydney, Australia.; Genetic Metabolic Disorders Service, The Sydney Children's Hospital Network, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Forwood C; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Melbourne, Australia., Kumble S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., McKeown C; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Poke G; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia., Regan BM; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Stutterd CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Wilkins EJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3432-3447. Date of Electronic Publication: 2022 Aug 17.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Fennell+AP%22">Fennell AP</searchLink>; Monash Genetics, Monash Health, Melbourne, Australia.; Clinical Genetics Service, Austin Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Baxter+AE%22">Baxter AE</searchLink>; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia.<br /><searchLink fieldCode="AU" term="%22Berkovic+SF%22">Berkovic SF</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.<br /><searchLink fieldCode="AU" term="%22Ellaway+CJ%22">Ellaway CJ</searchLink>; Paediatrics North, Sydney, Australia.; Genetic Metabolic Disorders Service, The Sydney Children's Hospital Network, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Forwood+C%22">Forwood C</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Hildebrand+MS%22">Hildebrand MS</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Kumble+S%22">Kumble S</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22McKeown+C%22">McKeown C</searchLink>; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand.<br /><searchLink fieldCode="AU" term="%22Mowat+D%22">Mowat D</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Poke+G%22">Poke G</searchLink>; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand.<br /><searchLink fieldCode="AU" term="%22Rajagopalan+S%22">Rajagopalan S</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Regan+BM%22">Regan BM</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Stutterd+CA%22">Stutterd CA</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Tan+TY%22">Tan TY</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Wilkins+EJ%22">Wilkins EJ</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Yeung+A%22">Yeung A</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Hunter+MF%22">Hunter MF</searchLink>; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3432-3447. <i>Date of Electronic Publication: </i>2022 Aug 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        StartPage: 3432
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