Publications by authors named "Ed Blair"

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Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Susan Walker, David J Bunyan, Huw B Thomas, Yesim Kesim, Christopher J Kershaw, Ed Blair

Genet Med· September 2025

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Ed Blair

Nature· August 2024

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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Alistair T Pagnamenta, Jing Yu, Susan Walker, Alexandra J Noble, Jenny Lord, Ed Blair

Am J Hum Genet· June 2024

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DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, Jessica Tardif, Klaus Dieterich, Ed Blair

Genet Med· January 2021

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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, Jessica Tardif, Klaus Dieterich, Ed Blair

Genet Med· January 2021

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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, Ed Blair

Genome Med· March 2019

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, Ed Blair

Genome Med· February 2019

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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Eveline Boudin, Tjeerd R de Jong, Tim C R Prickett, Bruno Lapauw, Kaatje Toye, Ed Blair

Am J Hum Genet· August 2018

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Role of dental hardware in oral cavity squamous cell carcinoma in the low-risk nonsmoker nondrinker population.
Jessica A Yesensky, Rifat Hasina, Kristen E Wroblewski, Joseph Bellairs, Zhen Gooi, Elizabeth D Blair

Head Neck· April 2018

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Prediction of response to targeted and immune checkpoint therapies.
Edward D Blair, Martina Kaufmann, Mieke Keppens

Per Med· January 2018

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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, Christopher D Smyser, Sarah Ahmed, Ed Blair

Lancet Neurol· December 2015

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A perspective analysis: companion diagnostics: an evolving paradigm in 21st century healthcare.
Martina Kaufmann, Mieke Keppens, Edward D Blair

Per Med· August 2015

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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Dorien Schepers, Alexander J Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Ed Blair

Eur J Hum Genet· February 2015

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Aligning the economic value of companion diagnostics and stratified medicines.
Edward D Blair, Elyse K Stratton, Martina Kaufmann

J Pers Med· November 2012

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The economic value of companion diagnostics and stratified medicines.
Edward D Blair, Elyse K Stratton, Martina Kaufmann

Expert Rev Mol Diagn· November 2012

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Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
Karen Mitchell, James O'Sullivan, Caterina Missero, Ed Blair, Rose Richardson

Am J Hum Genet· January 2012

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Drug-diagnostic co-development: how to harness the value.
Edward D Blair, James A Blakemore

Drug Discov Today· October 2011

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Sustaining development of stratified medicines in the UK healthcare system: a commentary.
Edward D Blair, Belinda R Clarke, Terry O'Neill

Per Med· September 2011

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Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
Sibel Ugur Iseri, Alexander W Wyatt, Gudrun Nürnberg, Christian Kluck, Peter Nürnberg, Ed Blair

Hum Genet· July 2010

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Molecular diagnostics and personalized medicine: value-assessed opportunities for multiple stakeholders.
Edward D Blair

Per Med· March 2010

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An unusual case of sex cord tumor with annular tubules with malignant transformation in a patient with Peutz-Jeghers syndrome.
Douglas Barker, Rohini Sharma, Angus McIndoe, Ed Blair, Marcia Hall

Int J Gynecol Pathol· January 2010

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Assessing the value-adding impact of diagnostic-type tests on drug development and marketing.
Edward D Blair

Mol Diagn Ther· November 2008

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Mouse models of rhinovirus-induced disease and exacerbation of allergic airway inflammation.
Nathan W Bartlett, Ross P Walton, Michael R Edwards, Juliya Aniscenko, Gaetano Caramori, Edward D Blair

Nat Med· February 2008

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Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Lorne Lonie, Daniel E Porter, Maria Fraser, Trevor Cole, Carol Wise, Ed Blair

Hum Mutat· November 2006

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Increase in infectivity of targeted Moloney murine leukemia virus-based gene-delivery vectors through lowering the threshold for fusion.
A Viejo-Borbolla, P Thomas, E D Blair, T F Schulz

J Gen Virol· September 2005

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