Jonathan Berg

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

Publications

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
1/2019, 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
11/2018, American Journal of Medical Genetics, Part A
Research Output: Contribution To Journal > Article

Cerebrofaciothoracic dysplasia : Four new patients with a recurrent TMCO1 pathogenic variant
10/2018, 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)
6/2018, Journal of the Endocrine Society
Research Output: Contribution To Journal > Article

MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer
3/2018, Annals of Oncology
Research Output: Contribution To Journal > Article

A 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
8/2017, BMJ Open
Research Output: Contribution To Journal > Article

Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort
7/2017, European Journal of Human Genetics
Research Output: Contribution To Journal > Article

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease
11/2017, Journal of the Endocrine Society
Research Output: Contribution To Journal > Article

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
8/2017, American Journal of Human Genetics
Research Output: Contribution To Journal > Article

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome : 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature
10/2016, Journal of Medical 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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