Publications by authors named "Gemma Poke"

23Publications

Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation.

N Z Med J 2020 04 24;133(1513):116-118. Epub 2020 Apr 24.

Neurologist, Waikato General Hospital, Hamilton, Waikato.

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April 2020

Spinocerebellar Ataxia type 29 in a family of Māori descent.

Cerebellum Ataxias 2019 12;6:14. Epub 2019 Oct 12.

1Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, Gonda Room 6554, Los Angeles, CA 90095 USA.

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http://dx.doi.org/10.1186/s40673-019-0108-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790028PMC
October 2019

Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?

J Genet Couns 2019 10 5;28(5):1029-1041. Epub 2019 Aug 5.

University of Technology Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/jgc4.1156DOI Listing
October 2019

Expanding the phenotypic spectrum associated with DPF2: A new case report.

Am J Med Genet A 2019 08 17;179(8):1637-1641. Epub 2019 Jun 17.

Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.61262DOI Listing
August 2019

Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.

Am J Med Genet A 2018 12 4;176(12):2892-2895. Epub 2018 Dec 4.

Genetic Health Service, Wellington, New Zealand.

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http://doi.wiley.com/10.1002/ajmg.a.40652
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http://dx.doi.org/10.1002/ajmg.a.40652DOI Listing
December 2018

A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352)] Causing Episodic Ataxia Type 2.

Case Rep Neurol Med 2018 11;2018:5802650. Epub 2018 Mar 11.

Wellington Hospital, Wellington, New Zealand.

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http://dx.doi.org/10.1155/2018/5802650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866854PMC
March 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

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Neuromuscul Disord 2016 11 19;26(11):744-748. Epub 2016 Sep 19.

Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.nmd.2016.09.009DOI Listing
November 2016

Phenotypic variability of Dent disease in a large New Zealand kindred.

Pediatr Nephrol 2017 02 3;32(2):365-369. Epub 2016 Oct 3.

Wellington Regional Genetics Laboratory, Wellington, New Zealand.

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http://dx.doi.org/10.1007/s00467-016-3472-8DOI Listing
February 2017

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Nat Genet 2013 Mar 3;45(3):295-8. Epub 2013 Feb 3.

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/ng.2552DOI Listing
March 2013

A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.

Am J Med Genet A 2012 Oct 10;158A(10):2511-8. Epub 2012 Sep 10.

Institute of Reproductive and Stem Cell Engineering, Central South University, China.

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http://dx.doi.org/10.1002/ajmg.a.35591DOI Listing
October 2012