Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Autor: Simpson, NH, Addis, L, Brandler, WM, Slonims, V, Clark, A, Watson, J, Scerri, TS, Hennessy, ER, Bolton, PF, Conti-Ramsden, G, Fairfax, BP, Knight, JC, Stein, J, Talcott, JB, O'Hare, A, Baird, G, Paracchini, S, Fisher, SE, Newbury, DF

AIM: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e86b41de9404a37a0eb15da12924ead2
https://ora.ox.ac.uk/objects/uuid:35f3b9a1-9f64-4867-a8f3-46271d28c7ac

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Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

Autor: Wouter G. Staal, Gerd Schulte-Körne, Thomas S. Scerri, Fritz Poustka, Panos Deloukas, Anthony P. Monaco, Roel A. Ophoff, Per Hoffmann, Denise Harold, Anthony J. Bailey, Ernesto Lowy, Kerstin U. Ludwig, Jiannis Ragoussis, Maretha de Jonge, Elena Bacchelli, Michael Conlon O'Donovan, Markus M. Nöthen, Ghazala Mirza, Alistair T. Pagnamenta, Silvia Paracchini, Julie Williams, Elena Maestrini, Andreas G. Chiocchetti, Renske H. Houben, Sabine M. Klauck, Fiorella Minopoli, Jade Chapman

Publikováno v: Biological psychiatry. 68(4)

Background: Autism spectrum disorders (ASDs) are characterized by social, communication, and behavioral deficits and complex genetic etiology. A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37f6723041ac856fc45c664942fe99ed
https://pubmed.ncbi.nlm.nih.gov/20674601

Atypical development of Broca's area in a large family with inherited stuttering.

Autor: Thompson-Lake DGY; UCL Great Ormond Street Institute of Child Health, London, UK., Scerri TS; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, 1G Royal Parade, Parkville 305, Australia., Block S; Discipline of Speech Pathology, School of Allied Health, Human Services & Sport, La Trobe University, Bundoora 3086, Australia., Turner SJ; Speech and Language, Murdoch Children's Research Institute, Parkville 3052, Australia., Reilly S; Speech and Language, Murdoch Children's Research Institute, Parkville 3052, Australia.; Menzies Health Institute Queensland, Griffith University, Southport 4215, Australia., Kefalianos E; Speech and Language, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia., Bonthrone AF; UCL Great Ormond Street Institute of Child Health, London, UK., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104 USA.; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104 USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104 USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104 USA., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, 1G Royal Parade, Parkville 305, Australia., Scheffer IE; Department of Medicine, University of Melbourne, Austin Hospital, Heidelberg 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville 3052, Australia.; Murdoch Children's Research Institute, Parkville 3052, Australia.; Florey Institute of Neuroscience and Mental Health, Parkville 3052, Australia., Hildebrand MS; Department of Medicine, University of Melbourne, Austin Hospital, Heidelberg 3084, Australia.; Murdoch Children's Research Institute, Parkville 3052, Australia., Liégeois FJ; UCL Great Ormond Street Institute of Child Health, London, UK., Morgan AT; Speech and Language, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville 3052, Australia.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Apr 29; Vol. 145 (3), pp. 1177-1188.

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

Autor: Hildebrand JM; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia. jhildebrand@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia. jhildebrand@wehi.edu.au., Kauppi M; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Majewski IJ; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Liu Z; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Cox AJ; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Miyake S; Department of Biochemistry, Toho University School of Medicine, Ota-ku, Tokyo, 143-8540, Japan., Petrie EJ; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Silk MA; Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, 3052, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Li Z; Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT) at Translational Research Institute, Brisbane, Australia., Tanzer MC; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; Department of Proteomics and Signal Transduction, Max Planck Institute of Biochemistry, Martinsried, 82152, Germany., Brumatti G; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Young SN; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Hall C; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Garnish SE; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Corbin J; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Stutz MD; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; Vaccine and Gene Therapy Institute, Oregon Health and Science University, Beaverton, OR, 97006, USA., Di Rago L; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Gangatirkar P; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Josefsson EC; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Rigbye K; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia., Anderton H; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Rickard JA; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; The Royal Melbourne Hospital, Melbourne, VIC, 3050, Australia., Tripaydonis A; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; The Royal Melbourne Hospital, Melbourne, VIC, 3050, Australia., Sheridan J; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Scerri TS; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Jackson VE; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Czabotar PE; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Zhang JG; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Varghese L; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; Ludwig Institute for Cancer Research and de Duve Institute, Brussels, Belgium., Allison CC; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Pellegrini M; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Tannahill GM; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; GSK Medicines Research Centre, Stevenage, UK., Hatchell EC; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Willson TA; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Stockwell D; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., de Graaf CA; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Collinge J; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Hilton A; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia., Silke N; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Spall SK; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Chau D; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; CSL Limited, Parkville, VIC, 3052, Australia., Athanasopoulos V; Department of Immunology and Infectious Disease and Centre for Personalised Immunology (NHMRC Centre for Research Excellence), John Curtin School of Medical Research, Australian National University, Canberra, Australia.; Centre for Personalised Immunology (CACPI), Shanghai Renji Hospital, Shanghai Jiao Tong University, Shanghai, China., Metcalf D; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Laxer RM; Division of Rheumatology, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Bassuk AG; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA.; Department of Neurology, University of Iowa Carver College of Medicine and the Iowa Neuroscience Institute, Iowa City, IA, USA., Darbro BW; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Fiatarone Singh MA; Faculty of Health Sciences and Sydney Medical School, University of Sydney, Sydney, Australia., Vlahovich N; Department of Sports Medicine, Australian Institute of Sport, Bruce, ACT, Australia., Hughes D; Department of Sports Medicine, Australian Institute of Sport, Bruce, ACT, Australia., Kozlovskaia M; Department of Sports Medicine, Australian Institute of Sport, Bruce, ACT, Australia.; Faculty of Health, University of Canberra, Canberra, Australia., Ascher DB; Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, 3052, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Warnatz K; Department of Internal Medicine, Clinic for Rheumatology and Clinical Immunology, Medical Center -University of Freiburg, Faculty of Medicine, Freiburg, 79106, Germany.; Center for Chronic Immunodeficiency, Medical Center -University of Freiburg, Faculty of Medicine, Freiburg, Germany., Venhoff N; Department of Internal Medicine, Clinic for Rheumatology and Clinical Immunology, Medical Center -University of Freiburg, Faculty of Medicine, Freiburg, 79106, Germany., Thiel J; Department of Internal Medicine, Clinic for Rheumatology and Clinical Immunology, Medical Center -University of Freiburg, Faculty of Medicine, Freiburg, 79106, Germany., Biben C; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Blum S; Princess Alexandra Hospital, Brisbane, QLD, Australia., Reveille J; Memorial Hermann Texas Medical Centre, Houston, TX, USA., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia., Vinuesa CG; Department of Immunology and Infectious Disease and Centre for Personalised Immunology (NHMRC Centre for Research Excellence), John Curtin School of Medical Research, Australian National University, Canberra, Australia.; Centre for Personalised Immunology (CACPI), Shanghai Renji Hospital, Shanghai Jiao Tong University, Shanghai, China., McCombe P; The University of Queensland, UQ Centre for Clinical Research, Royal Brisbane & Women's Hospital, Brisbane, Australia., Brown MA; Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT) at Translational Research Institute, Brisbane, Australia.; NIHR Biomedical Research Centre, Kings College, London, UK., Kile BT; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.; Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia., McLean C; Department of Anatomical Pathology, The Alfred Hospital, Prahran, VIC, 3181, Australia., Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Masters SL; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Nakano H; Department of Biochemistry, Toho University School of Medicine, Ota-ku, Tokyo, 143-8540, Japan., Ferguson PJ; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Alexander WS; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia. alexandw@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia. alexandw@wehi.edu.au., Silke J; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia. silke@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia. silke@wehi.edu.au.

Publikováno v: Nature communications [Nat Commun] 2020 Jun 19; Vol. 11 (1), pp. 3150. Date of Electronic Publication: 2020 Jun 19.