Anne Ronan

Anne Ronan

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Anne Ronan

Anne Ronan

Publications by authors named "Anne Ronan"

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20Publications

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An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.

J Clin Endocrinol Metab 2020 Mar;105(3)

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1210/clinem/dgaa034DOI Listing
March 2020

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.

Neuropediatrics 2019 Nov 28. Epub 2019 Nov 28.

Laboratory of Neurogenetics and Neuroinflammation, Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1055/s-0039-3400979DOI Listing
November 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

Chromosome microarray analysis: A soothing guide.

Authors:
Anne Ronan

J Paediatr Child Health 2018 Jun 24;54(6):599-601. Epub 2018 Mar 24.

Hunter Genetics Unit, Hunter New England Local Health District, Newcastle, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.13869DOI Listing
June 2018

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

Mol Syndromol 2018 Feb 25;9(2):70-82. Epub 2018 Jan 25.

School of Biomedical Sciences and Pharmacy, The University of Newcastle, Newcastle, NSW, Australia.

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http://dx.doi.org/10.1159/000484532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836217PMC
February 2018

The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.

Eur J Med Genet 2017 Jul 9;60(7):353-358. Epub 2017 Mar 9.

Hunter Genetics, Hunter New England Local Health District, PO Box 84, Waratah, NSW, Australia 2298. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.02.005DOI Listing
July 2017

Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.

Am J Med Genet A 2017 Jul 12;173(7):1975-1978. Epub 2017 May 12.

University of Newcastle, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38268DOI Listing
July 2017

Somatic-gonadal mosaicism causing Sotos syndrome.

Am J Med Genet A 2016 Dec 8;170(12):3360-3362. Epub 2016 Sep 8.

Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37867DOI Listing
December 2016

Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion.

Am J Med Genet A 2008 Jan;146A(1):78-82

Hunter Genetics Unit, Waratah, NSW, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.31952
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31952DOI Listing
January 2008

Elevated atopy in healthy obese women.

Am J Clin Nutr 2005 Sep;82(3):504-9

Department of Animal and Nutritional Sciences, University of New Hampshire, Durham, NH 03824, USA.

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http://dx.doi.org/10.1093/ajcn.82.3.504DOI Listing
September 2005

Effects of ketamine-xylazine and isoflurane on insulin sensitivity in dehydroepiandrosterone sulfate-treated minipigs (Sus scrofa domestica).

Comp Med 2002 Jun;52(3):233-7

Department of Animal and Nutritional Sciences, University of New Hampshire, Durham 03824-3505, USA.

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June 2002

Bioterrorism and the epidemiology of fear.

Lancet Infect Dis 2002 Jun;2(6):326

University of Pittsburgh, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1016/s1473-3099(02)00286-4DOI Listing
June 2002