Publications by authors named "Louise Docherty"

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Maternal variants in and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova

J Med Genet· July 2018

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Claire L S Turner, Emma Kivuva

Nat Commun· September 2015

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A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.
Faisal I Rezwan, Louise E Docherty, Rebecca L Poole, Gabrielle A Lockett, S Hasan Arshad

Clin Epigenetics· April 2015

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Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.
Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Hannah Jagoe, Hannah Lake

J Med Genet· April 2014

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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
Rebecca L Poole, Louise E Docherty, Abeer Al Sayegh, Almuth Caliebe, Claire Turner

Am J Med Genet A· September 2013

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Identification of tribbles-1 as a novel binding partner of Foxp3 in regulatory T cells.
Emilie Dugast, Endre Kiss-Toth, Louise Docherty, Richard Danger, Mélanie Chesneau

J Biol Chem· April 2013

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Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.
Susanne E Boonen, Deborah J G Mackay, Johanne M D Hahnemann, Louise Docherty, Karen Grønskov

Diabetes Care· March 2013

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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
Rebecca L Poole, Donald J Leith, Louise E Docherty, Mansur E Shmela, Christine Gicquel

Eur J Hum Genet· February 2012

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An atypical case of hypomethylation at multiple imprinted loci.
Emma L Baple, Rebecca L Poole, Sahar Mansour, Catherine Willoughby, I Karen Temple, Louise E Docherty

Eur J Hum Genet· March 2011

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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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A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.
Houman Ashrafian, Louise Docherty, Vincenzo Leo, Christopher Towlson, Monica Neilan

PLoS Genet· June 2010

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