Publications by authors named "Jonathan N Berg"

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De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Maria J Nabais Sá, Philip J Jensik, Stacey R McGee, Michael J Parker, Nayana Lahiri, Jonathan N Berg

Genet Med· September 2019

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Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.
Thabo Michael Yates, Oon-Hui Ng, Amaka C Offiah, Josh Willoughby, Jonathan N Berg

Am J Med Genet A· January 2019

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Pathogenicity and Penetrance of Germline Variants in Pheochromocytoma and Paraganglioma (PPGL).
Pavithran Maniam, Kaixin Zhou, Mike Lonergan, Jonathan N Berg, David R Goudie

J Endocr Soc· July 2018

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Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort.
Lucy A Littlejohn, Jim Gibbs, Lee B Jordan, Zosia H Miedzybrodzka, Christine Bell, Jonathan N Berg

Eur J Hum Genet· April 2018

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Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.
Paul J Newey, Jonathan N Berg, Kaixin Zhou, Colin N A Palmer, Rajesh V Thakker

J Endocr Soc· December 2017

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Genome-wide association study of sporadic brain arteriovenous malformations.
Shantel Weinsheimer, Nasrine Bendjilali, Jeffrey Nelson, Diana E Guo, Jonathan G Zaroff, Jonathan N Berg

J Neurol Neurosurg Psychiatry· September 2016

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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Laura Spinelli, Fiona M Black, Jonathan N Berg, Britta J Eickholt, Nicholas R Leslie

J Med Genet· February 2015

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Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer.
Abdulla Ibrahim, Daniel R Barnes, Jacqueline Dunlop, Daniel Barrowdale, Antonis C Antoniou, Jonathan N Berg

Eur J Hum Genet· November 2014

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Germline FH mutations presenting with pheochromocytoma.
Graeme R Clark, Marco Sciacovelli, Edoardo Gaude, Diana M Walsh, Gail Kirby, Jonathan N Berg

J Clin Endocrinol Metab· October 2014

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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Veerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, Jonathan N Berg, Niklas Darin

Orphanet J Rare Dis· February 2014

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Lifestyle changes in women at genetic risk of breast cancer: an observational study.
Lorna McLeish, Marta M Reis, Clare Stewart, David R Goudie, Jonathan N Berg

Int J Behav Med· December 2013

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FGFR2 protein expression in breast cancer: nuclear localisation and correlation with patient genotype.
Amy J Martin, Andrew Grant, Alison M Ashfield, Colin N Palmer, Lee Baker, Jonathan N Berg

BMC Res Notes· March 2011

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A boy with supernumerary mosaic trisomy 19q, involving 19q13.11-19q13.2, with macrocephaly, obesity and mild facial dysmorphism.
Catriona E J Hall, Joan J P Cunningham, Robert G Hislop, Jonathan N Berg

Clin Dysmorphol· October 2010

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Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1.
Andreas Lux, Christian Beil, Meher Majety, Suzanne Barron, Carol J Gallione, Jonathan N Berg

J Biol Chem· March 2005

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