Concepedia

Diana Baralle

DB

Statistics

Publications

93

Citations

8.6K

H-Index

44

Active since

1993

Affiliations

University of Southampton(Current)

University Hospital Southampton NHS Foundation Trust

University of Manchester

Princess Anne Hospital

University College London

Diana Baralle is an author at University of Southampton specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

1993–2024

93

Publications

93

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 811 citations · Full text

, , +17

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 771 citations · Full text

, , +14

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

, , +14

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Jacquelyn Bond, Emma Roberts, Kelly Springell et al. · Nature Genetics · 2005 · 567 citations

, , +6

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Katrina Tatton‐Brown, Sheila Seal, Elise Ruark et al. · Nature Genetics · 2014 · 362 citations · Full text

, , +16

1–5 of 93