المؤلفون: Kaspi, Antony^{Aff1, Aff2}, Hildebrand, Michael S.^{Aff2, Aff3}, Jackson, Victoria E.^{Aff1, Aff2}, Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J.^{Aff2, Aff3}, Webster, Richard, Coman, David^{Aff5, Aff6}, Goel, Himanshu, Wallis, Mathew^{Aff8, Aff9}, Dabscheck, Gabriel^{Aff2, Aff10}, Downie, Lilian^{Aff2, Aff10}, Baker, Emma K.^{Aff2, Aff3}, Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F.^{Aff1, Aff2}, Robertson, Erandee^{Aff1, Aff2}, Wang, Longfei^{Aff1, Aff2}, Boys, Amber, Fisher, Simon E.^{Aff14, Aff15}, Amor, David J.^{Aff2, Aff3, Aff10}, Scheffer, Ingrid E., Bahlo, Melanie^{Aff1, Aff2}, Morgan, Angela T.^{Aff2, Aff3, Aff6, Aff10, IDs41380022017648_cor30}

المصدر: Molecular Psychiatry. 28(4):1647-1663

المؤلفون: Kaspi, Antony^{Aff1, Aff2}, Hildebrand, Michael S.^{Aff2, Aff3}, Jackson, Victoria E.^{Aff1, Aff2}, Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J.^{Aff2, Aff3}, Webster, Richard, Coman, David^{Aff5, Aff6}, Goel, Himanshu, Wallis, Mathew^{Aff8, Aff9}, Dabscheck, Gabriel^{Aff2, Aff10}, Downie, Lilian^{Aff2, Aff10}, Baker, Emma K.^{Aff2, Aff3}, Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F.^{Aff1, Aff2}, Robertson, Erandee^{Aff1, Aff2}, Wang, Longfei^{Aff1, Aff2}, Boys, Amber, Fisher, Simon E.^{Aff14, Aff15}, Amor, David J.^{Aff2, Aff3, Aff10}, Scheffer, Ingrid E., Bahlo, Melanie^{Aff1, Aff2}, Morgan, Angela T.^{Aff2, Aff3, Aff6, Aff10, IDs4138002201879y_cor30}

المصدر: Molecular Psychiatry. 28(4):1664-1666

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المؤلفون: Lauretta ML; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Jarmolowicz A; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Amor DJ; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia., Best S; Australian Genomics, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Victorian Comprehensive Cancer Centre Alliance, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia., Morgan AT; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia.; The University of Queensland, St. Lucia, Australia.

المصدر: Journal of speech, language, and hearing research : JSLHR [J Speech Lang Hear Res] 2024 Sep 26; Vol. 67 (9S), pp. 3437-3451. Date of Electronic Publication: 2023 Sep 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Speech-Language-Hearing Association Country of Publication: United States NLM ID: 9705610 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-9102 (Electronic) Linking ISSN: 10924388 NLM ISO Abbreviation: J Speech Lang Hear Res Subsets: MEDLINE

مواضيع طبية MeSH: Apraxias*/genetics , Speech-Language Pathology*, Humans ; Male ; Female ; Child ; Qualitative Research ; Genetic Testing ; Adult ; Child, Preschool ; Referral and Consultation ; Attitude of Health Personnel

المؤلفون: Hildebrand MS; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Braden RO; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Lauretta ML; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Kaspi A; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Leventer RJ; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Anderson M; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Goel H; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Bahlo M; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Scheffer IE; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Amor DJ; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Janowski R; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Niessing D; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany., Morgan AT; From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.

المصدر: Neurology. Genetics [Neurol Genet] 2024 Aug 06; Vol. 10 (5), pp. e200181. Date of Electronic Publication: 2024 Aug 06 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE