Publications by authors named "Amber Boys"

12Publications

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Neurology 2020 05 28;94(20):e2148-e2167. Epub 2020 Apr 28.

From the Department of Medicine (M.S.H., M.C., K.A.R., I.E.S.), The University of Melbourne, Austin Health, Heidelberg; Population Health and Immunity Division (V.E.J., T.S.S., M.B.), The Walter and Eliza Hall Institute of Medical Research; Departments of Medical Biology (V.E.J., T.S.S., M.B.) and Audiology and Speech Pathology (R.O.B., A.T.M.) and Department of Paediatrics, The Royal Children's Hospital (B.P.-F., G.P., M.H., D.J.A., I.E.S.), The University of Melbourne; Speech and Language (O.V.R., R.O.B., S.T., S.B., S.R., A.T.M.), Murdoch Children's Research Institute (M.S.H., D.J.A., I.E.S.); Victorian Clinical Genetics Services (A. Boys, M.D.), Parkville, Victoria; Department of Neurology (R.W.) and Clinical Genetics (A.M.), The Children's Hospital Westmead; Department of Paediatrics (M.F., K.S.), Monash University; Monash Children's Hospital (K.S.), Clayton, Victoria; The Wesley Hospital (D.C.), Auchenflower, Queensland; Hunter Genetics (H.G., A. Baxter), John Hunter Hospital, New Lambton Heights; Melbourne Children's Clinic (N.D.), Victoria; Griffith University (S.R.), Mount Gravatt, Queensland, Australia; UCL Great Ormond Street Institute of Child Health (F.J.L.), London, UK; Florey Institute of Neuroscience and Mental Health (A.C., I.E.S.), Parkville, Victoria; South Australian Health and Medical Research Institute (J.G.), Robinson Research Institute and Adelaide Medical School, University of Adelaide, South Australia; Language and Genetics Department (S.E.F.), Max Planck Institute for Psycholinguistics; and Donders Institute for Brain, Cognition and Behaviour (S.E.F.), Radboud University, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000009441DOI Listing
May 2020

Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.

Eur J Med Genet 2020 Jan 23;63(1):103618. Epub 2019 Jan 23.

Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2019.01.008DOI Listing
January 2020

Characterization of speech and language phenotype in children with NRXN1 deletions.

Am J Med Genet B Neuropsychiatr Genet 2018 12 25;177(8):700-708. Epub 2018 Oct 25.

Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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http://doi.wiley.com/10.1002/ajmg.b.32664
Publisher Site
http://dx.doi.org/10.1002/ajmg.b.32664DOI Listing
December 2018

ADGRV1 is implicated in myoclonic epilepsy.

Epilepsia 2018 02 20;59(2):381-388. Epub 2017 Dec 20.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Vic., Australia.

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http://doi.wiley.com/10.1111/epi.13980
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http://dx.doi.org/10.1111/epi.13980DOI Listing
February 2018

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Am J Med Genet A 2017 03 7;173(3):820-823. Epub 2017 Feb 7.

Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38076DOI Listing
March 2017

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.

PLoS Genet 2016 Dec 15;12(12):e1006483. Epub 2016 Dec 15.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1006483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157948PMC
December 2016

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p.

Am J Med Genet A 2008 Aug;146A(15):1972-6

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32299DOI Listing
August 2008

BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpoints.

Hum Mutat 2005 May;25(5):476-82

Murdoch Childrens Research Institute, University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://dx.doi.org/10.1002/humu.20164DOI Listing
May 2005