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Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.

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Title: Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Authors: Ismail V; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK., Zachariassen LG; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark., Godwin A; European Xenopus Resource Centre, School of Biological Sciences, King Henry Building, King Henry I Street, Portsmouth PO1 2DY, UK., Sahakian M; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark., Ellard S; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK; University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK., Stals KL; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK., Baple E; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK; University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK., Brown KT; South-West Thames Clinical Genetics Service, St George's University of London, Cranmer Terrace, London SW17 0RE, UK., Foulds N; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK., Wheway G; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK., Parker MO; School of Pharmacy and Biomedical Sciences, University of Portsmouth, Old St Michael's Building, White Swan Road, Portsmouth PO1 2DT, UK., Lyngby SM; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark., Pedersen MG; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark., Desir J; Département de Génétique Clinique - Institut de Pathologie et de Génétique, Institut de Pathologie et de Génétique, Avenue Georges Lemaître, 25 6041 Gosselies, Belgium., Bayat A; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, 4293 Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Musgaard M; Department of Chemistry and Biomolecular Sciences, University of Ottawa, 75 Laurier Ave E, Ottawa, ON K1N 6N5, Canada., Guille M; European Xenopus Resource Centre, School of Biological Sciences, King Henry Building, King Henry I Street, Portsmouth PO1 2DY, UK., Kristensen AS; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark. Electronic address: ask@sund.ku.dk., Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK. Electronic address: d.baralle@soton.ac.uk.
Source: American journal of human genetics [Am J Hum Genet] 2022 Jul 07; Vol. 109 (7), pp. 1217-1241. Date of Electronic Publication: 2022 Jun 07.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Ismail+V%22">Ismail V</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK.<br /><searchLink fieldCode="AU" term="%22Zachariassen+LG%22">Zachariassen LG</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Godwin+A%22">Godwin A</searchLink>; European Xenopus Resource Centre, School of Biological Sciences, King Henry Building, King Henry I Street, Portsmouth PO1 2DY, UK.<br /><searchLink fieldCode="AU" term="%22Sahakian+M%22">Sahakian M</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Ellard+S%22">Ellard S</searchLink>; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK; University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Stals+KL%22">Stals KL</searchLink>; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Baple+E%22">Baple E</searchLink>; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK; University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Brown+KT%22">Brown KT</searchLink>; South-West Thames Clinical Genetics Service, St George's University of London, Cranmer Terrace, London SW17 0RE, UK.<br /><searchLink fieldCode="AU" term="%22Foulds+N%22">Foulds N</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK.<br /><searchLink fieldCode="AU" term="%22Wheway+G%22">Wheway G</searchLink>; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.<br /><searchLink fieldCode="AU" term="%22Parker+MO%22">Parker MO</searchLink>; School of Pharmacy and Biomedical Sciences, University of Portsmouth, Old St Michael's Building, White Swan Road, Portsmouth PO1 2DT, UK.<br /><searchLink fieldCode="AU" term="%22Lyngby+SM%22">Lyngby SM</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Pedersen+MG%22">Pedersen MG</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Desir+J%22">Desir J</searchLink>; Département de Génétique Clinique - Institut de Pathologie et de Génétique, Institut de Pathologie et de Génétique, Avenue Georges Lemaître, 25 6041 Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, 4293 Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Musgaard+M%22">Musgaard M</searchLink>; Department of Chemistry and Biomolecular Sciences, University of Ottawa, 75 Laurier Ave E, Ottawa, ON K1N 6N5, Canada.<br /><searchLink fieldCode="AU" term="%22Guille+M%22">Guille M</searchLink>; European Xenopus Resource Centre, School of Biological Sciences, King Henry Building, King Henry I Street, Portsmouth PO1 2DY, UK.<br /><searchLink fieldCode="AU" term="%22Kristensen+AS%22">Kristensen AS</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark. Electronic address: ask@sund.ku.dk.<br /><searchLink fieldCode="AU" term="%22Baralle+D%22">Baralle D</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK. Electronic address: d.baralle@soton.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2022 Jul 07; Vol. 109 (7), pp. 1217-1241. <i>Date of Electronic Publication: </i>2022 Jun 07.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
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