Jonathan Berg

+44 (0)1382 383481
Senior Lecturer and Honorary Consultant in Clinical Genetics

Publications

Exome Sequencing in Patients With Antiepileptic Drug Exposure And Complex Phenotypes
9/2019, Archives of Disease in Childhood
Research Output: Contribution To Journal > Article

De novo and biallelic DEAF1 variants cause a phenotypic spectrum
9/2019, Genetics in Medicine
Research Output: Contribution To Journal > Article

Urinary desmosine, a biomarker of elastin degradation is significantly elevated and associated with maximum aortic root size and aortic Z-scores in patients with bicuspid aortic valve
5/2019, Heart
Research Output: Contribution To Journal > Meeting abstract

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
3/2019, American Journal of Human Genetics
Research Output: Contribution To Journal > Article

Refining the Primrose syndrome phenotype : A study of five patients with ZBTB20 de novo variants and a review of the literature
3/2019, American Journal of Medical Genetics, Part A
Research Output: Contribution To Journal > Article

Cerebrofaciothoracic dysplasia : Four new patients with a recurrent TMCO1 pathogenic variant
1/2019, American Journal of Medical Genetics, Part A
Research Output: Contribution To Journal > Article

Pathogenicity and penetrance of germline SDHA variants in pheochromocytoma and paraganglioma (PPGL)
7/2018, Journal of the Endocrine Society
Research Output: Contribution To Journal > Article

MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer
5/2018, Annals of Oncology
Research Output: Contribution To Journal > Article

Feasibility study to assess the impact of a lifestyle intervention (‘LivingWELL’) in people having an assessment of their family history of colorectal or breast cancer
2/2018, BMJ Open
Research Output: Contribution To Journal > Article

Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort
/2018, European Journal of Human Genetics
Research Output: Contribution To Journal > Article

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Activities

11th International Workshop on Breast Imaging

Jonathan Berg (Participant)
9 Jul 2012

Activity: Participating in or organising an event typesParticipation in workshop, seminar, course

Activity Type: Attendance

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