Publications by authors named "Collette K Hand"

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Implementation of an ISO 15189 accredited next generation sequencing service for cell-free total nucleic acid (cfTNA) analysis to facilitate driver mutation reporting in blood: the experience of a clinical diagnostic laboratory.
Reiltin Werner, Ruth Crosbie, Mairead Dorney, Amy Connolly, Dearbhaile Collins, Collette K Hand

J Clin Pathol· October 2025

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Implementation of an ISO15189 accredited next-generation sequencing service with the fully automated Ion Torrent Genexus: the experience of a clinical diagnostic laboratory.
Réiltín Werner, Amy Connolly, Michael Bennett, Collette K Hand, Louise Burke

J Clin Pathol· March 2024

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Low incidence of BRAF and NRAS mutations in a population with a high incidence of melanoma.
Grace Neville, Barbara Marzario, David Shilling, Collette K Hand, Cynthia Heffron

Virchows Arch· March 2024

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Mutagenesis by Microbe: the Role of the Microbiota in Shaping the Cancer Genome.
Maurice Barrett, Collette K Hand, Fergus Shanahan, Thomas Murphy, Paul W O'Toole

Trends Cancer· April 2020

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Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family.
Olwen C Murphy, Orna O'Toole, Collette K Hand, Aisling M Ryan

Tremor Other Hyperkinet Mov (N Y)· March 2019

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Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.
Collette K Hand, Mairide McGuire, Nollaig A Parfrey, Conor C Murphy

Ophthalmic Genet· November 2017

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Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis.
Áine Merwick, Tzehow Mok, Brian McNamara, Nollaig A Parfrey, Helena Moore, Collette K Hand

Mov Disord Clin Pract· March 2015

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Andersen-Tawil syndrome with early fixed myopathy.
Stela Lefter, Orla Hardiman, Donal Costigan, Bryan Lynch, John McConville, Collette K Hand

J Clin Neuromuscul Dis· December 2014

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A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree.
Evelyn B Skehan, Manal M A Abdulrahim, Nollaig A Parfrey, Collette K Hand

Neurogenetics· May 2012

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A novel PLP1 mutation further expands the clinical heterogeneity at the locus.
Collette Kathleen Hand, Geneviève Bernard, Marie-Pierre Dubé, Michael Israel Shevell, Guy Armand Rouleau

Can J Neurol Sci· March 2012

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A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.
Desiree M Fernandez, Collette K Hand, Brian J Sweeney, Nollaig A Parfrey

Headache· January 2008

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Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
Collette K Hand, Rebecca S Devon, Francois Gros-Louis, Daniel Rochefort, Jawad Khoris

Arch Neurol· December 2003

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Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.
Robert K Koenekoop, Magali Loyer, Collette K Hand, Huda Al Mahdi, Olga Dembinska

Am J Ophthalmol· October 2003

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Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation.
Nicolas Dupré, Dominique J Verlaan, Collette K Hand, Sandra B Laurent, Gustavo Turecki

Can J Neurol Sci· May 2003

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An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.
François Gros-Louis, Inge A Meijer, Collette K Hand, Marie-Pierre Dubé, Daune L MacGregor

Ann Neurol· January 2003

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Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
Inge A Meijer, Collette K Hand, P Cossette, Denise A Figlewicz, Guy A Rouleau

Arch Neurol· February 2002

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Familial amyotrophic lateral sclerosis.
Collette K Hand, Guy A Rouleau

Muscle Nerve· February 2002

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A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Collette K Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana Amélia Simões Lopes

Am J Hum Genet· January 2002

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