Publications by authors named "Simon Cliffe"

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Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Eric Lee, Kaylee Orton, Edward Kwan, Claire Faga, Trang Le, Simon Cliffe

Genes (Basel)· May 2025

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, Carey-Anne Evans, Emily O'Heir, Corrina Cliffe, Simon Cliffe

Genet Med· May 2024

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Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110.
Tiffany Wang, Peck Ong, Tony Roscioli, Simon T Cliffe, Joseph A Church

Clin Immunol· November 2012

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Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
Simon T Cliffe, Donald B Bloch, Santi Suryani, Erik-Jan Kamsteeg, Danielle T Avery

J Allergy Clin Immunol· September 2012

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Expanding the clinical spectrum of SLC29A3 gene defects.
Ronen Spiegel, Simon T Cliffe, Michael F Buckley, Yanick J Crow, Jill Urquhart

Eur J Med Genet· January 2011

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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
Paul A James, Bronwyn Culling, Glenda Mullan, Mark Jenkins, George Elakis, Simon T Cliffe

Genes Chromosomes Cancer· July 2009

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Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.
Emma L Edghill, Shihab Hameed, Charles F Verge, Oscar Rubio-Cabezas, Jesús Argente, Simon T Cliffe

JOP· July 2009

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Simon T Cliffe, Jamie M Kramer, Khalid Hussain, Joris H Robben, Eiko K de Jong

Hum Mol Genet· June 2009

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The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.
Simon T Cliffe, Melanie Wong, Peter J Taylor, Ezia Ruga, Bridget Wilcken

Prenat Diagn· July 2007

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Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
Tony Roscioli, Simon T Cliffe, Donald B Bloch, Christopher G Bell, Glenda Mullan

Nat Genet· June 2006

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