Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.

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Eur J Hum Genet, 2024

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DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.

Foreman J, Perrett D, Mazaika E, Hunt SE, Ware JS, Firth HV.

Annu Rev Genomics Hum Genet, 2023

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV, DDD Study.

N Engl J Med, 2023

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DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.

Foreman J, Brent S, Perrett D, Bevan AP, Hunt SE, Cunningham F, Hurles ME, Firth HV.

Hum Mutat, 2022

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Registered access: authorizing data access.

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Eur J Hum Genet, 2018

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Matchmaker Exchange.

Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL, Matchmaker Exchange Consortium.

Curr Protoc Hum Genet, 2017

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The plant-specific CDKB1-CYCB1 complex mediates homologous recombination repair in Arabidopsis.

Weimer AK, Biedermann S, Harashima H, Roodbarkelari F, Takahashi N, Foreman J, Guan Y, Pochon G, Heese M, Van Damme D, Sugimoto K, Koncz C, Doerner P, Umeda M, Schnittger A.

EMBO J, 2016

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Linked circadian outputs control elongation growth and flowering in response to photoperiod and temperature.

Seaton DD, Smith RW, Song YH, MacGregor DR, Stewart K, Steel G, Foreman J, Penfield S, Imaizumi T, Millar AJ, Halliday KJ.

Mol Syst Biol, 2015

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HIGH EXPRESSION OF OSMOTICALLY RESPONSIVE GENES1 is required for circadian periodicity through the promotion of nucleo-cytoplasmic mRNA export in Arabidopsis.

MacGregor DR, Gould P, Foreman J, Griffiths J, Bird S, Page R, Stewart K, Steel G, Young J, Paszkiewicz K, Millar AJ, Halliday KJ, Hall AJ, Penfield S.

Plant Cell, 2013

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Network balance via CRY signalling controls the Arabidopsis circadian clock over ambient temperatures.

Gould PD, Ugarte N, Domijan M, Costa M, Foreman J, Macgregor D, Rose K, Griffiths J, Millar AJ, Finkenstädt B, Penfield S, Rand DA, Halliday KJ, Hall AJ.

Mol Syst Biol, 2013

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