Diana Baralle

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 14 papers. Top paper: “Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation”.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Genetics in Medicine(2022)10.1016/j.gim.2022.05.007

N/A

0.846DataRank · unranked

281 citations

Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley +79 more

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Nature Genetics(2023)10.1038/s41588-023-01469-w

N/A

0.655DataRank · unranked

78 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +28 more

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.014

N/A

0.510DataRank · unranked

29 citations

Algy Taylor, Gillian I. Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman +8 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

medRxiv(2023)10.1101/2023.09.12.23295416

N/A

0.292DataRank · unranked

6 citations

Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Susan Walker +17 more

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

medRxiv(2022)10.1101/2022.10.24.22281480

N/A

0.292DataRank · unranked

6 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +26 more

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data

medRxiv(2025)10.1101/2025.01.30.25321185

N/A

0DataRank · unranked

0 citations

Dina Issakova, Barry Slaff, San Jewell, Nicholas F. Lahens, Gregory R. Grant +7 more

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Human Molecular Genetics(2020)10.1093/hmg/ddaa050

N/A

0DataRank · unranked

42 citations

Athina Ververi, Ana Beleza‐Meireles, Weizhen Ji, Emily K. Mis, Quinten Patterson +25 more

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina

medRxiv(2025)10.1101/2025.04.25.25326445

N/A

0DataRank · unranked

0 citations

Ayellet V. Segrè, Kinga M. Bujakowska, Steve Haynes, Diana Baralle, Siddharth Banka +4 more

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

Human Mutation(2021)10.1002/humu.24276

N/A

0DataRank · unranked

12 citations

Ignacio Fernandez‐Garcia, Sylvie Mazoyer, Flávia Leme de Calais, Pietro Ameri, Sangeetha Vijayakumar +31 more

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

medRxiv(2021)10.1101/2021.03.19.21253973

N/A

0DataRank · unranked

5 citations

Algy Taylor, Gillian I. Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman +9 more

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-107971

N/A

0DataRank · unranked

13 citations

Annie Laquerrière, Florent Marguet, Scott J. Myers, Yuan Hongjie, Diana Baralle +24 more

Predicting the impact of rare variants on RNA splicing in CAGI6

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.20.545093

N/A

0DataRank · unranked

0 citations

Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G. L. Douglas, David J. Bunyan, Yaqiong Wang +22 more

Predicting the impact of rare variants on RNA splicing in CAGI6

Human Genetics(2024)10.1007/s00439-023-02624-3

N/A

0DataRank · unranked

13 citations

Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G. L. Douglas, David J. Bunyan, Yaqiong Wang +22 more