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Amanda B. Spurdle

QIMR Berghofer Medical Research Institute
H-index:95
Citation Count:4.0万
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Surveying the evolving landscape of genetic and genomic testing in the state of Queensland

调查昆士兰州遗传和基因组检测的演变格局

Pathology
IF3
2026-09-220
PRE
Emily L. Mitchell; Sarah M. Smith; Lindsay F. Fowles; Meg E. Jeppesen; Ben Lundie; Chiyan Lau; Amanda B. Spurdle; Rehan M. Villani
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium

RNA剪接证据能够实现BRCA1外显子18变异的稳健分类：ENIGMA联盟的研究结果

American Journal of Human Genetics
IF8.1
2026-09-010
PRE
Domenech-Vivo, Joanna; Tubeuf, Helene; Mesman, Romy L. S.; Drouet, Aurelie; Girardi, Melanie; Alonso-Cerezo, Maria Concepcion; Baralle, Diana; Boutry-Kryza, Nadia; Bunyan, David J.; Byers, Helen J.; Caputo, Sandrine M.; Claes, Kathleen B. M.; De la Hoya, Miguel; Evans, D. Gareth; Fresard, Laure; Krieger, Sophie; Lazaro, Conxi; Leone, Melanie; Machackova, Eva; Menendez, Mireia; Moles-Fernandez, Alejandro; Montalban, Gemma; Mundt, Erin; Richardson, Marcy E.; Van Veen, Elke M.; Weyandt, Jamie; Balmana, Judith; Spurdle, Amanda B.; Diez, Orland; Vreeswijk, Maaike P. G.; Martins, Alexandra; Gutierrez-Enriquez, Sara
BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types

BRCA1和BRCA2致病性变异增加了四种不太常见癌症类型的风险。

ESMO Open
IF8.3
2026-04-080
OAAI
H. Sasagawa; M. Endo; Y. Iwasaki; Y. Usui; Y.N. Koyanagi; G. Innella; J. Hadler; M.T. Parsons; K. Numakura; Y. Kamatani; Y. Murakami; K. Matsuo; K. Matsuda; A.B. Spurdle; T. Habuchi; Y. Momozawa
Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations
JNCI: Journal of the National Cancer Institute
IF0
2026-01-240
OA
Christian P Kratz, MD; Megan N Frone, MS; Payal P Khincha, MBBS; Jessica N Hatton, MS; Judith Penkert, MD; Paul A James, MD; Amanda B Spurdle, PhD; Cristina Fortuno, PhD
Correspondence on “Genome sequencing reveals the impact of pseudoexons in rare genetic disease” by Pitsava et al

关于Pitsava等人论文“Genome sequencing reveals the impact of pseudoexons in rare genetic disease”的通信

Genetics in Medicine
IF6.2
2026-01-060
PRE
Daffodil M. Canson; George A.R. Wiggins; Logan C. Walker; Amanda B. Spurdle
Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan

泛癌种中林奇综合征相关变异在日本BioBank中的患病率、风险及临床和人口统计学特征

Communications Medicine
IF6.3
2025-11-130
OAAI
Keijiro Mizukami; Yoshiaki Usui; Yusuke Iwasaki; Kouya Shiraishi; Makoto Hirata; Yoichiro Kamatani; Mikiko Endo; Satoshi Takahashi; Yoshiki Mochizuki; Mitusyo Yamaguchi; Takashi Kohno; Koichi Matsuda; Kokichi Sugano; Teruhiko Yoshida; Hidewaki Nakagawa; Chikashi Terao; Yuriko N. Koyanagi; Keitaro Matsuo; Yoshinori Murakami; Amanda B. Spurdle; Yukihide Momozawa
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1-、BRCA2-和PALB2相关的范可尼贫血：扩展疾病表型特征并预测杂合子乳腺癌风险的潜力

The American Journal of Human Genetics
IF0
2025-10-300
PRE
Sharon E. Johnatty; Emma Tudini; Michael T. Parsons; Kyriaki Michailidou; Maria Zanti; Daffodil M. Canson; Aimee L. Davidson; Tamar Berger; Rasim Ozgur Rosti; Christian P. Kratz; Reinhard Kalb; Lisa J. McReynolds; Neelam Giri; Marcy E. Richardson; Tina Pesaran; Jordi Surrallés; Roser Pujol; Babu Rao Vundinti; Merin George; Kara N. Maxwell; Kate Nathanson; Susan Domchek; Moisés Ó. Fiesco-Roa; Sara Frias; Benilde García-de-Teresa; Marjolijn Jongmans; Seema Lalani; Merel Maiburg; Katrina Prescott; Rachel Robinson; Sulekha Rajagopalan; Lot Snijders Blok; Suzanna E.L. Temple; Kathy Tucker; Arleen D. Auerbach; Maria I. Cancio; Jennifer A. Kennedy; Margaret L. MacMillan; Rebecca Tryon; John E. Wagner; Michael Walsh; Nicholas J. Boddicker; Chunling Hu; Jeffrey N. Weitzel; Alexander J.M. Dingemans; Johanna Hadler; Nitsan Rotenberg; Lobna Ramadane-Morchadi; Miguel de la Hoya; Paul James; Thomas Van Overeem Hansen; Maaike P.G. Vreeswijk; Logan C. Walker; Shyam K. Sharan; Douglas F. Easton; Fergus Couch; Agata Smogorzewska; Adam Nelson; Joanne Ngeow; Marc Tischkowitz; Encarnacion Gomez-Garcia; Amanda B. Spurdle
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

大规模元分析和精确功能测定识别出FANCM区域，其中致病性体细胞突变（PTVs）对ER阴性和三阴性乳腺癌产生不同的风险。

The Breast
IF0
2025-10-300
OAAI
Amandine Billaud; Gisella Figlioli; Clémence Mooser; Irene Casamassima; Violette Azzoni; Jahnavi Srivatsa; Mara Colombo; Laura Caleca; Thomas U. Ahearn; Irene L. Andrulis; Antonis C. Antoniou; Matthias W. Beckmann; Sabine Behrens; Marina Bermisheva; Natalia V. Bogdanova; Manjeet K. Bolla; Bernardo Bonanni; Thomas Brüning; Nicola J. Camp; Archie Campbell; Jose E. Castelao; Melissa H. Cessna; Jenny Chang-Claude; Kamila Czene; Joe Dennis; Peter Devilee; Thilo Dörk; Alison M. Dunning; Mikael Eriksson; D.Gareth Evans; Peter A. Fasching; Jonine D. Figueroa; Marike Gabrielson; Manuela Gago-Dominguez; Anna González-Neira; Pascal Guénel; Andreas Hadjisavvas; Eric Hahnen; Ute Hamann; Peter Hillemanns; Antoinette Hollestelle; Maartje J. Hooning; Reiner Hoppe; Anthony Howell; Anna Jakubowska; Vessela N. Kristensen; Jan Lubiński; Michael Lush; Siranoush Manoukian; Dimitrios Mavroudis; Roger L. Milne; Anna Marie Mulligan; William G. Newman; Nadia Obi; Mihalis I. Panayiotidis; Guillermo Pita; Muhammad U. Rashid; Valerie Rhenius; Emmanouil Saloustros; Elinor J. Sawyer; Rita K. Schmutzler; Mitul Shah; Melissa C. Southey; Amanda B. Spurdle; Ian Tomlinson; Thérèse Truong; Qin Wang; Camilla Wendt; Paul L. Auer; Nicholas J. Boddicker; Clara Bodelon; Elizabeth S. Burnside; Fei Chen; Fergus J. Couch; Susan M. Domchek; Heather A. Eliassen; Christopher Haiman; James M. Hodge; Chunling Hu; Hongyan Huang; Sara Lindstrom; Maria Elena Martinez; Katherine L. Nathanson; Susan L. Neuhausen; Katie M. O’Brien; Janet E. Olson; Julie R. Palmer; Alpa V. Patel; Kathryn J. Ruddy; Dale P. Sandler; Lauren R. Teras; Clarice R. Weinberg; Jeffrey N. Weitzel; Stacey J. Winham; Siddhartha Yadav; Song Yao; Gary Zirpoli; Marketa Janatova; Zdenek Kleibl; Petra Kleiblova; Jana Soukupova; Qihong Zhao; Lisa Devereux; Paul A. James; Ian G. Campbell; Tu Nguyen-Dumont; James G. Dowty; Nadine Andrieu; Fabienne Lesueur; Dominique Stoppa-Lyonnet; Miguel de la Hoya; Paolo Radice; Claus Storgaard Sørensen; Paolo Peterlongo
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

一种基于贝叶斯定量分析的基因特异性变异分类方法：更新的专家小组建议改进了TP53生殖细胞变异在Li-Fraumeni综合征中的分类

Genome Medicine
IF11.2
2025-10-240
OAAI
Cristina Fortuno; Megan N. Frone; Jessica Mester; Miguel de la Hoya; Phuong L. Mai; Tina Pesaran; Maria Isabel Achatz; Rebecca Bassett; Carolina Bustamante; Stephanie Crowley; Kelvin Cesar de Andrade; D. Gareth Evans; Bingjian Feng; Laura Fuqua; Maria Isabel Harrell; Jessica N. Hatton; Robert Huether; Chimene Kesserwan; Kristy Lee; Suzanne P. MacFarland; Jamie L. Maciaszek; Kara Maxwell; Kelly McGoldrick; Maureen Murphy; Bita Nehoray; Judith Penkert; Emilia Modolo Pinto; Sharon E. Plon; Alison Schwartz-Levine; Ashley S. Thompson; Wenyi Wang; Gerard P. Zambetti; Kristin Zelley; Paul A. James; Sharon A. Savage; Christian P. Kratz; Amanda B. Spurdle
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

ACMG/AMP变异整理指南中关于体细胞PALB2序列变异分析的规定

american journal of human genetics
IF0
2025-09-170
OAAI
Marcy E. Richardson; Megan F.H. Bishop; Megan A. Holdren; Miguel de la Hoya; Amanda B. Spurdle; Sean V. Tavtigian; Terra Brannan; Colin C. Young; Lauren Zec; Susan Hiraki; Clare Turnbull; Marc Tischkowitz; Kara A. Bernstein; Jean-Yves Masson; Shannon M. McNulty; Tina Pesaran; Alvaro N. Monteiro; Logan C. Walker; William D. Foulkes; Fergus J. Couch
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

预测高外显率癌症易感基因TP53中降低外显率变异的特征

Human Genetics and Genomics Advances
IF3.6
2025-07-210
OAAI
Cristina Fortuno; Marcy E. Richardson; Tina Pesaran; Kelly McGoldrick; Paul A. James; Amanda B. Spurdle
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

TP53 minigene分析161个序列变化为空间约束和调控元件在变异诱导的剪接影响中的作用提供了证据

NPJ GENOMIC MEDICINE
IF4.8
2025-05-080
OAAI
Daffodil M. Canson; Inés Llinares-Burguet; Cristina Fortuno; Lara Sanoguera-Miralles; Elena Bueno-Martínez; Miguel de la Hoya; Amanda B. Spurdle; Eladio A. Velasco-Sampedro
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

ACMG/AMP对BRCA1错义变异的解释：结构信息评分增加了PP3/BP4计算证据的证据强度粒度

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-05-010
OAAI
Ramadane-Morchadi, L; Rotenberg, N; Esteban-Sánchez, A; Fortuno, C; Gómez-Sanz, A; Varga, MJ; Chamberlin, A; Richardson, ME; Michailidou, K; Pérez-Segura, P; Spurdle, AB; de la Hoya, M
Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants

整合蛋白质稳定性与AlphaMissense评分可提高对p53错义突变和框内氨基酸缺失变异的生物信息学影响预测

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-05-010
PRE
Rotenberg, Nitsan; Fortuno, Cristina; Varga, Matthew J.; Chamberlin, Adam C.; Ramadane-Morchadi, Lobna; Feng, Bing-Jian; de la Hoya, Miguel; Richardson, Marcy E.; Spurdle, Amanda B.
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

通过预测和小基因分析探索剪接在TP53变异致病性中的作用

HUMAN GENOMICS
IF4.3
2025-01-080
OAAI
Fortuno, Cristina; Llinares-Burguet, Ines; Canson, Daffodil M.; de la Hoya, Miguel; Bueno-Martinez, Elena; Sanoguera-Miralles, Lara; Caldes, Sonsoles; James, Paul A.; Velasco-Sampedro, Eladio A.; Spurdle, Amanda B.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

用于分析种系ATM序列变体的ACMG/AMP变体管理指南的规范

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-11-010
OAAI
Richardson, Marcy E.; Holdren, Megan; Brannan, Terra; de la Hoya, Miguel; Spurdle, Amanda B.; V. Tavtigian, Sean; Young, Colin C.; Zec, Lauren; Hiraki, Susan; Anderson, Michael J.; Walker, Logan C.; Mcnulty, Shannon; Turnbull, Clare; Tischkowitz, Marc; Schon, Katherine; Slavin, Thomas; Foulkes, William D.; Cline, Melissa; Monteiro, Alvaro N.; Pesaran, Tina; Couch, Fergus J.
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres

在澳大利亚家族性癌症中心的国家级审查中确定的乳腺癌风险变异的不可识别的可操作性

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-10-141
OAAI
Fortuno, Cristina; Cops, Elisa J.; Davidson, Aimee L.; Hadler, Johanna; Innella, Giovanni; Mckenzie, Maddison E.; Parsons, Michael; Campbell, Ainsley M.; Dubowsky, Andrew; Fargas, Verna; Field, Michael J.; Mar Fan, Helen G.; Nichols, Cassandra B.; Poplawski, Nicola K.; Warwick, Linda; Williams, Rachel; Beshay, Victoria; Edwards, Caitlin; Johns, Andrea; Mcphillips, Mary; Kumar, Vanessa Siva; Scott, Rodney; Williams, Mark; Scott, Hamish; James, Paul A.; Spurdle, Amanda B.
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-09-0112
OAAI
Parsons, Michael T.; de la Hoya, Miguel; Richardson, Marcy E.; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M.; Chan, Raymond C.; Cline, Melissa S.; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; San Leong, Huei; Martins, Alexandra; Mensenkamp, Arjen R.; Monteiro, Alvaro N.; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A.; Toland, Amanda E.; Turnbull, Clare; Vogel, Maartje J.; Weyandt, Jamie; Wiggins, George A. R.; Zec, Lauren; Couch, Fergus J.; Walker, Logan C.; Vreeswijk, Maaike P. G.; Goldgar, David E.; Spurdle, Amanda B.
Regional-specific calibration enables application of computational evidence for clinical classification of 5' cis-regulatory variants in Mendelian disease
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-07-010
PRE
Villani, Rehan M.; McKenzie, Maddison E.; Davidson, Aimee L.; Spurdle, Amanda B.
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services

罕见病基因组数据的再分析: 澳大利亚临床和实验室遗传学服务的当前实践和态度

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-05-255
OAAI
Best, Stephanie; Fehlberg, Zoe; Richards, Christopher; Quinn, Michael C. J.; Lunke, Sebastian; Spurdle, Amanda B.; Kassahn, Karin S.; Patel, Chirag; Vears, Danya F.; Goranitis, Ilias; Lynch, Fiona; Robertson, Alan; Tudini, Emma; Christodoulou, John; Scott, Hamish; McGaughran, Julie; Stark, Zornitza

Research Directions

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G
Georgia Chenevix‐Trench
H-index:115Papers:997Citations:7.0万
M
Melissa C. Southey
H-index:121Papers:1,251Citations:6.6万
G
Graham G. Giles
H-index:164Papers:2,399Citations:12.2万
D
Douglas F. Easton
H-index:177Papers:1,184Citations:13.7万
P
Paul D.P. Pharoah
H-index:150Papers:1,771Citations:9.6万
P
Paolo Radice
H-index:91Papers:651Citations:3.7万
H
Heli Nevanlinna
H-index:106Papers:718Citations:5.0万
F
Fergus J. Couch
H-index:119Papers:1,336Citations:6.0万
M
Michael T. Parsons
H-index:43Papers:181Citations:7,223
T
Tracy A. O’Mara
H-index:38Papers:239Citations:6,721