Publications by authors named "Mathew Nightingale"

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Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
Sarah van der Ende, Karen Bedard, Karin Wallace, Michael P Mackley, Mathew Nightingale

Invest Ophthalmol Vis Sci· February 2025

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Multimodal imaging of white preretinal lesions in atypical familial exudative vitreoretinopathy: Case report and literature review.
Liam D Redden, Douglas S M Iaboni, Sarah van der Ende, Mathew Nightingale, Daniel Gaston

Am J Ophthalmol Case Rep· June 2024

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Two Variants Causing Basan Syndrome in a Canadian and a Dutch Family.
Youssef Elhaji, Tessa M A van Henten, Claudia A L Ruivenkamp, Mathew Nightingale, Gijs We Santen

JID Innov· September 2021

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Familial Optic Disc Pits in 2 Father-Son Pairs: Clinical Features and Genetic Analysis.
Devin Betsch, Andrew Orr, Mathew Nightingale, Daniel Gaston, Rishi Gupta

Case Rep Ophthalmol· July 2021

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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Johane M Robitaille, Roxanne M Gillett, Marissa A LeBlanc, Daniel Gaston, Mathew Nightingale

JAMA Ophthalmol· December 2014

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Germline mutations in MAP3K6 are associated with familial gastric cancer.
Daniel Gaston, Samantha Hansford, Carla Oliveira, Mathew Nightingale, Hugo Pinheiro

PLoS Genet· October 2014

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A novel rearrangement of occludin causes brain calcification and renal dysfunction.
Marissa A LeBlanc, Lynette S Penney, Daniel Gaston, Yuhao Shi, Erika Aberg, Mathew Nightingale

Hum Genet· November 2013

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Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Andrew Orr, Marie-Pierre Dubé, Juan C Zenteno, Haiyan Jiang, Geraldine Asselin, Mathew Nightingale

Mol Vis· December 2011

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Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Duane L Guernsey, Makoto Matsuoka, Haiyan Jiang, Susan Evans, Christine Macgillivray, Mathew Nightingale

Nat Genet· February 2011

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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
Duane L Guernsey, Haiyan Jiang, Karen Bedard, Susan C Evans, Meghan Ferguson, Mathew Nightingale

PLoS Genet· August 2010

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Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Duane L Guernsey, Haiyan Jiang, Julie Hussin, Marc Arnold, Khalil Bouyakdan, Mathew Nightingale

Am J Hum Genet· July 2010

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Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Duane L Guernsey, Haiyan Jiang, Susan C Evans, Meghan Ferguson, Makoto Matsuoka, Mathew Nightingale

Am J Hum Genet· July 2009

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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Duane L Guernsey, Haiyan Jiang, Dean R Campagna, Susan C Evans, Meghan Ferguson, Mathew Nightingale

Nat Genet· June 2009

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Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple myeloma.
Matthew W Jenner, Paola E Leone, Brian A Walker, Fiona M Ross, David C Johnson, Mathew Nightingale

Blood· November 2007

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