Amanda B. Spurdle

QIMR Berghofer Medical Research Institute

Biochemistry, Genetics and Molecular BiologyMedicine

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 2%percentile

3.1Author DataRank

Indexed papers

8in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 8 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions

JNCI Journal of the National Cancer Institute(2023)10.1093/jnci/djad043

Top 25%

0.804DataRank

Top 25%33 citations

Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James W. MacDonald +56 more

Papers

Driven by 71 papers — median percentile 68. Top paper: “Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers”.

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers

Annals of Oncology(2019)10.1093/annonc/mdz132

N/A

2.6DataRank · unranked

103 citations

J. Johnson, F. Newell, Ann‐Marie Patch, H. Thorne, S.H. Kazakoff +27 more

A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization

Nature Communications(2021)10.1038/s41467-020-20368-w

N/A

1.9DataRank · unranked

60 citations

Suzanne C. Dixon‐Suen, Xikun Han, Jiyuan An, Rebecca C. Fitzgerald, Matt Buas +61 more

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

Genetics in Medicine(2021)10.1016/j.gim.2021.08.016

N/A

1.2DataRank · unranked

31 citations

Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi +56 more

Pregnancy outcomes and risk of endometrial cancer: A pooled analysis of individual participant data in the Epidemiology of Endometrial Cancer Consortium

International Journal of Cancer(2020)10.1002/ijc.33360

N/A

1.2DataRank · unranked

29 citations

Renhua Na, Elisabete Weiderpass, Hans‐Olov Adami, Kristin E. Anderson, Piet A. van den Brandt +45 more

The association between genetically elevated polyunsaturated fatty acids and risk of cancer

EBioMedicine(2023)10.1016/j.ebiom.2023.104510

N/A

1.2DataRank · unranked

52 citations

Maria Carolina Borges, Kimberley Burrows, Rozenn N. Lemaître, Stephen Burgess, Nikhil K. Khankari +94 more

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Journal of Clinical Oncology(2022)10.1200/jco.21.02112

N/A

0.851DataRank · unranked

290 citations

Valentina Silvestri, Goska Leslie, Timothy R. Rebbeck, Susan L. Neuhausen, John L. Hopper +95 more

Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions

JNCI Journal of the National Cancer Institute(2023)10.1093/jnci/djad043

Top 25%

0.804DataRank

Top 25%33 citations

Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James W. MacDonald +56 more

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

JAMA Oncology(2022)10.1001/jamaoncol.2021.6744

N/A

0.792DataRank · unranked

196 citations

Leila Dorling, Sara Carvalho, Jamie Allen, Anna González‐Neira, Renske Keeman +89 more

A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data

Cancer Epidemiology Biomarkers & Prevention(2020)10.1158/1055-9965.epi-19-1527

N/A

0.768DataRank · unranked

39 citations

Chun Chieh Fan, Roshan Karunamuni, Eleanor Walsh, Emma L. Turner, J. Athene Lane +57 more

Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Journal of Medical Genetics(2022)10.1136/jmg-2022-108807

N/A

0.745DataRank · unranked

24 citations

Jamie L. Maciaszek, Bryony A. Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa +19 more

Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100041

Top 27%

0.739DataRank

Top 27%21 citations

Arunabha Majumdar, Lu Wang, Siddhartha Kar, Kevin M. Brown, Helian Feng +54 more

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

Nature Communications(2020)10.1038/s41467-020-16483-3

N/A

0.735DataRank · unranked

133 citations

Amber N. Hurson, Haoyu Zhang, Parichoy Pal Choudhury, Douglas F. Easton, Roger L. Milne +82 more

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.013

N/A

0.689DataRank · unranked

98 citations

Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael Anderson, Windy Berkofsky-Fessler +38 more

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

International Journal of Cancer(2020)10.1002/ijc.33206

N/A

0.646DataRank · unranked

73 citations

Frédéric Amant, Daniela Annibali, Katie A. Ashton, John Attia, Paul L. Auer +89 more

Associations between Genetically Predicted Circulating Protein Concentrations and Endometrial Cancer Risk

Cancers(2021)10.3390/cancers13092088

N/A

0.628DataRank · unranked

19 citations

Tracy A. O’Mara, Duo Liu, Veronica Wendy Setiawan, Dylan M. Glubb, Amanda B. Spurdle +18 more

Design and quality control of large-scale two-sample Mendelian randomization studies

International Journal of Epidemiology(2023)10.1093/ije/dyad018

Top 32%

0.620DataRank

Top 32%14 citations

Maria Carolina Borges, Kimberley Burrows, Rozenn N. Lemaître, Sean Harrison, Stephen Burgess +95 more

TP53-associated early breast cancer: new observations from a large cohort

JNCI Journal of the National Cancer Institute(2024)10.1093/jnci/djae074

Top 32%

0.620DataRank

Top 32%19 citations

Michele Bottosso, Tianyu Li, Natália Polidorio, Brittany Bychkovsky, Benjamin Verret +13 more

Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling

Gynecologic Oncology(2017)10.1016/j.ygyno.2017.08.011

N/A

0.593DataRank · unranked

51 citations

Yen Y. Tan, Daniel D. Buchanan, Michael Bowman, Rhiannon J. Walters, Andreas Obermair +10 more

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

Human Mutation(2020)10.1002/humu.24060

N/A

0.477DataRank · unranked

23 citations

Jessica L. Mester, Tina Pesaran, Jeffrey N. Weitzel, Jill S. Dolinsky, Amal Yussuf +13 more

Risk prediction models for endometrial cancer: development and validation in an international consortium

JNCI Journal of the National Cancer Institute(2023)10.1093/jnci/djad014

N/A

0.470DataRank · unranked

22 citations

Peter Kraft, Bernard Rosner, Yolanda Benavente, Amanda Black, Louise A. Brinton +41 more

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Frontiers in Genetics(2020)10.3389/fgene.2020.00798

N/A

0.470DataRank · unranked

22 citations

Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma +5 more

Coffee consumption and risk of endometrial cancer: a pooled analysis of individual participant data in the Epidemiology of Endometrial Cancer Consortium (E2C2)

American Journal of Clinical Nutrition(2022)10.1093/ajcn/nqac229

N/A

0.457DataRank · unranked

20 citations

Mengmeng Du, Marc J. Gunter, Veronica Wendy Setiawan, Leo J. Schouten, Xiao‐Ou Shu +27 more

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

British Journal of Cancer(2023)10.1038/s41416-023-02263-5

N/A

0.449DataRank · unranked

19 citations

Susan J. Ramus, Melissa C. Southey, Nicola S. Meagher, Andreas Hadjisavvas, Esther M. John +87 more

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

UNC Libraries(2020)10.17615/bg56-kz70

N/A

0.449DataRank · unranked

19 citations

Trinidad Caldés, Maria A. Caligo, Alessandra Viel, Susan J. Ramus, Kathleen Claes +95 more

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.022

N/A

0.434DataRank · unranked

17 citations

Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +16 more

Rare germline copy number variants (CNVs) and breast cancer risk

Communications Biology(2022)10.1038/s42003-021-02990-6

N/A

0.416DataRank · unranked

15 citations

Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet K. Bolla +94 more

Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels

iScience(2023)10.1016/j.isci.2023.106590

N/A

0.380DataRank · unranked

9 citations

Pik Fang Kho, Dhanya Ramachandran, Cemsel Bafligil, Frédéric Amant, Ellen L. Goode +9 more

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

npj Breast Cancer(2020)10.1038/s41523-020-00185-6

N/A

0.360DataRank · unranked

10 citations

Sofia Khan, Rainer Fagerholm, Kristiina Aittomäki, Julie M. Cunningham, Joe Dennis +39 more

Combining genome-wide studies of breast, prostate, ovarian and endometrial cancers maps cross-cancer susceptibility loci and identifies new genetic associations

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.06.16.146803

Top 50%

0.350DataRank

Top 50%8 citations

Sara Lindström, Rayjean J. Hung, Kate Lawrenson, Marjanka K. Schmidt, Tracy A. O’Mara +95 more

Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.012

N/A

0.330DataRank · unranked

8 citations

Cristina Fortuño, Matthew J. Varga, Adam Chamberlin, Lobna Ramadane‐Morchadi, Bing Feng +4 more

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

Genome Medicine(2025)10.1186/s13073-025-01536-3

N/A

0.269DataRank · unranked

5 citations

Megan N. Frone, Jessica L. Mester, Miguel de la Hoya, Phuong L. Mai, Tina Pesaran +32 more

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100185

N/A

0.269DataRank · unranked

5 citations

Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb, Daffodil M. Canson

Germline copy number variants and endometrial cancer risk

Human Genetics(2024)10.1007/s00439-024-02707-9

N/A

0.225DataRank · unranked

3 citations

George A. R. Wiggins, V. Lau, Joe Dennis, Andrew N. Shelling, Michelle Wilson +45 more

GWAS meta-analysis identifies five susceptibility loci for endometrial cancer

EBioMedicine(2025)10.1016/j.ebiom.2025.105830

N/A

0.208DataRank · unranked

3 citations

Xue Min Wang, Triin Laisk, Ying Zheng, Nathan Ingold, Daffodil M. Canson +69 more

Consultation informs strategies to improve functional evidence use in variant classification

medRxiv(2024)10.1101/2024.12.04.24318523

N/A

0.208DataRank · unranked

3 citations

Bronwyn Terrill, Emma Tudini, Maddison E. McKenzie, Corrina Cliffe, Christopher N Hahn +12 more

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

UNC Libraries(2020)10.17615/9br1-ag80

N/A

0.165DataRank · unranked

2 citations

Paolo Peterlongo, María‐Isabel Tejada, Per Karlsson, Thomas van Overeem Hansen, Susan M. Domchek +95 more

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

The Breast(2025)10.1016/j.breast.2025.104619

N/A

0.104DataRank · unranked

1 citations

Gisella Figlioli, Clémence Mooser, Irene Casamassima, Violette Azzoni, Jahnavi Srivatsa +95 more

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

medRxiv(2023)10.1101/2023.02.24.23286431

N/A

0DataRank · unranked

17 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +11 more

Data from Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers

(2023)10.1158/0008-5472.c.6499160.v1

N/A

0DataRank · unranked

0 citations

Nandita Mitra, Susan M. Domchek, Fei Wan, Shannon Chuai, Tara M. Friebel +22 more

Regional-specific calibration enables application of bioinformatic evidence for clinical classification of 5’ cis-regulatory variants in Mendelian disease

medRxiv(2023)10.1101/2023.12.21.23300413

N/A

0DataRank · unranked

0 citations

Maddison E. McKenzie, Aimee L. Davidson, Amanda B. Spurdle, Rehan M. Villani

Workshop Polls: Functional evidence and how to use it workshop, November 2023

Zenodo (CERN European Organization for Nuclear Research)(2023)10.5281/zenodo.17532728

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Rehan M. Villani

Workshop Polls: Functional evidence and how to use it workshop, November 2023

Zenodo (CERN European Organization for Nuclear Research)(2023)10.5281/zenodo.17538222

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Rehan M. Villani

Workshop Report: Functional evidence and how to use it workshop, November 2023

Zenodo (CERN European Organization for Nuclear Research)(2023)10.5281/zenodo.17538259

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Alan F. Rubin, Rehan M. Villani

Workshop Report: Functional evidence and how to use it workshop, November 2023

Zenodo (CERN European Organization for Nuclear Research)(2023)10.5281/zenodo.17538260

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Alan F. Rubin, Rehan M. Villani

Workshop Polls: Functional evidence and how to use it workshop, November 2023

Zenodo (CERN European Organization for Nuclear Research)(2023)10.5281/zenodo.17532727

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Rehan M. Villani

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

medRxiv(2022)10.1101/2022.12.15.22283542

N/A

0DataRank · unranked

0 citations

Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb, Daffodil M. Canson

ClinGen CDH1 specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines

medRxiv(2021)10.1101/2021.11.01.21265332

N/A

0DataRank · unranked

0 citations

Jamie L. Maciaszek, Bryony A. Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa +19 more

Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.002

N/A

0DataRank · unranked

7 citations

Maddison E. McKenzie, Aimee L. Davidson, Amanda B. Spurdle, Rehan M. Villani

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Human Molecular Genetics(2024)10.1093/hmg/ddae009

N/A

0DataRank · unranked

7 citations

Kyriaki Michailidou, Michael T. Parsons, Jill S. Dolinsky, Tina Pesaran, Amal Yussuf +11 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

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

Cancer Medicine(2024)10.1002/cam4.70114

N/A

0DataRank · unranked

3 citations

Cristina Fortuño, Laura Caleca, Bing Feng, Courtney Carroll, Michael T. Parsons +27 more

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Human Mutation(2020)10.1002/humu.24152

N/A

0DataRank · unranked

166 citations

Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L. Mai, Kelvin C. de Andrade +19 more

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

medRxiv(2024)10.1101/2024.05.28.24307502

N/A

0DataRank · unranked

2 citations

Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +16 more

Workshop Report: Functional evidence evaluation workshop, June 2024

Zenodo (CERN European Organization for Nuclear Research)(2024)10.5281/zenodo.17538303

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Alan F. Rubin, Rehan M. Villani

Workshop Polls: Functional Evidence Discussion Forum Launch, October 2024

Zenodo (CERN European Organization for Nuclear Research)(2024)10.5281/zenodo.17538156

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Alan F. Rubin, Rehan M. Villani

Workshop Polls: Functional Evidence Discussion Forum Launch, October 2024

Zenodo (CERN European Organization for Nuclear Research)(2024)10.5281/zenodo.17538155

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Alan F. Rubin, Rehan M. Villani

Workshop Report: Functional evidence evaluation workshop, June 2024

Zenodo (CERN European Organization for Nuclear Research)(2024)10.5281/zenodo.17538302

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Alan F. Rubin, Rehan M. Villani

ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.011

N/A

0DataRank · unranked

11 citations

Nitsan Rotenberg, Ada Esteban‐Sánchez, Cristina Fortuño, Alicia Gómez-Sanz, Matthew J. Varga +7 more

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.04.009

N/A

0DataRank · unranked

12 citations

Runjun D. Kumar, Cristian Ovadiuc, Andrew Folta, Abbye E. McEwen, Ashley Snyder +8 more

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

medRxiv(2020)10.1101/2020.04.25.20078931

N/A

0DataRank · unranked

5 citations

Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L. Mai, Kelvin C. de Andrade +18 more

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.020

N/A

0DataRank · unranked

4 citations

Megan F.H. Bishop, Megan Holdren, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +15 more

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

UNC Libraries(2020)10.17615/2bje-6g29

N/A

0DataRank · unranked

0 citations

Deborah J. Thompson, Hannes Helgason, Timothy M. Frayling, Hilary K. Finucane, Patrick Sulem +211 more

A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk

PLoS ONE(2025)10.1371/journal.pone.0316086

N/A

0DataRank · unranked

2 citations

Wen Liu, Emil Andersson, Xue Min Wang, Hafdís T. Helgadóttir, Jessada Thutkawkorapin +13 more

The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms

Genome Research(2025)10.1101/gr.279557.124

N/A

0DataRank · unranked

0 citations

Michael T. Parsons, Gemma Moir-Meyer, Troy Dumenil, Gemma Montalban, Erica Lin +7 more

Workshop Report: Functional Evidence Discussion Forum Launch, October 2024

Zenodo (CERN European Organization for Nuclear Research)(2025)10.5281/zenodo.17538344

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Alan F. Rubin, Rehan M. Villani

Workshop Report: Functional Evidence Discussion Forum Launch, October 2024

Zenodo (CERN European Organization for Nuclear Research)(2025)10.5281/zenodo.17538345

N/A

0DataRank · unranked

0 citations

Amanda B. Spurdle, Alan F. Rubin, Rehan M. Villani

Considerations in assessing germline variant pathogenicity using cosegregation analysis

Genetics in Medicine(2020)10.1038/s41436-020-0920-4

N/A

0DataRank · unranked

40 citations

Michael T. Parsons, Amanda B. Spurdle, David E. Goldgar, Bing Feng, Sophie Belman

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome

Journal of Molecular Diagnostics(2020)10.1016/j.jmoldx.2020.12.003

N/A

0DataRank · unranked

24 citations

Mark Clendenning, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Jihoon E. Joo +14 more

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine(2023)10.1016/j.gim.2023.101036

N/A

0DataRank · unranked

70 citations

Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin +42 more

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

Bioinformatics(2023)10.1093/bioinformatics/btad179

N/A

0DataRank · unranked

26 citations

Aimee L. Davidson, Miguel de la Hoya, Michael T. Parsons, Dylan M. Glubb, Olga Kondrashova +2 more

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.002

N/A

0DataRank · unranked

315 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +28 more

Amanda B. Spurdle

Indexed papers

Top data-sharing exemplar

Papers