Publications by authors named "Alison Colley"

20Publications

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

J Genet Couns 2019 04 14;28(2):240-250. Epub 2018 Dec 14.

Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, Sydney, NSW, 2031, Australia.

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http://doi.wiley.com/10.1007/s10897-018-0298-5
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http://dx.doi.org/10.1007/s10897-018-0298-5DOI Listing
April 2019

Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome.

Mov Disord Clin Pract 2019 Mar 25;6(3):263-264. Epub 2019 Feb 25.

Movement Disorders Unit, Department of Neurology Westmead Hospital Sydney Australia.

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http://dx.doi.org/10.1002/mdc3.12729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417752PMC
March 2019

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.

J Am Coll Cardiol 2018 07;72(4):419-429

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.04.078DOI Listing
July 2018

Atypical Skin Manifestations in -Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

Mol Syndromol 2018 May 24;9(3):149-153. Epub 2018 Apr 24.

Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, SA, Australia.

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http://dx.doi.org/10.1159/000488439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006653PMC
May 2018

Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation?

J Neurol Neurosurg Psychiatry 2017 Aug 9. Epub 2017 Aug 9.

Department of Neurology, Liverpool Hospital, University of NSW, Liverpool, New South Wales, Australia.

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http://dx.doi.org/10.1136/jnnp-2017-316142DOI Listing
August 2017

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

N Engl J Med 2017 08;377(6):544-552

From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).

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http://dx.doi.org/10.1056/NEJMoa1616361DOI Listing
August 2017

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Hum Mol Genet 2015 Sep 9;24(17):4933-47. Epub 2015 Jun 9.

INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France,

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http://dx.doi.org/10.1093/hmg/ddv215DOI Listing
September 2015

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing.

Pathology 2006 Dec;38(6):507-19

Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital in the Central Clinical School, University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1080/00313020601027634DOI Listing
December 2006

The Genetic Counseling Workplace-An Australasian Perspective. A National Study of Workplace Issues for Genetic Counselors and Associate Genetic Counselors.

J Genet Couns 2003 Oct;12(5):439-56

Queensland Clinical Genetics Service, Toowoomba Base Hospital, Toowoomba, Queensland, Australia,

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http://dx.doi.org/10.1023/A:1025868804314DOI Listing
October 2003