Publications by authors named "Jonathan Callaway"

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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Alison Callaway, Jonathan Callaway

J Med Genet· July 2023

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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, Katie B Williams, Helena Lee, Jonathan Callaway

NPJ Genom Med· January 2022

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Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility.
David J Bunyan, Mili Saran, James I Hobbs, David J Anderson, Philippa J Duncan-Flavell, Jonathan L A Callaway

J Reprod Infertil· January 2022

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Perspective on the technical challenges involved in the implementation of array-CGH in prenatal diagnostic testing.
Jonathan L A Callaway, Shuwen Huang, Evangelia Karampetsou, John A Crolla

Mol Biotechnol· April 2014

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The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
Jonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla

Prenat Diagn· December 2013

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A comparison of methods for EGFR mutation testing in non-small cell lung cancer.
Elizabeth C Young, Martina M Owens, Idowu Adebiyi, Tina Bedenham, Rachel Butler, Jonathan Callaway

Diagn Mol Pathol· December 2013

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Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay.
David J Bunyan, Jonathan L A Callaway, Nadja Laddach

J Reprod Infertil· July 2012

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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Claire Louise Susan Turner, Deborah M Mackay, Jonathan L A Callaway, Louise E Docherty, Rebecca L Poole

Eur J Hum Genet· June 2010

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
Jet Bliek, Gaetano Verde, Jonathan Callaway, Saskia M Maas, Agostina De Crescenzo

Eur J Hum Genet· May 2009

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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
Deborah J G Mackay, Jonathan L A Callaway, Sophie M Marks, Helen E White, Carlo L Acerini

Nat Genet· August 2008

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