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M

Marcy E. Richardson

ambry genetics
H指数:19
被引数:1,697

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An integrated, scaled approach to resolve TSC2 variants of uncertain significance

一种集成且成比例的方法用于解决TSC2意义不明的变异

Nature Communications
IF15.7
2026-07-090
OAAI
Carina G. Biar; Ziyu R. Wang; Nathan D. Camp; Daniel L. Holmes; Melinda K. Wheelock; Sriram Pendyala; Abby V. McGee; Pankhuri Gupta; Abbye E. McEwen; Malvika Tejura; Marcy E. Richardson; Jamie D. Weyandt; Taylor Coleman; Alan F. Rubin; Nick Moore; Ross Stewart; Daniel Zeiberg; Allyssa J. Vandi; Samantha Dawson; Predrag Radivojac; Lea M. Starita; Gemma L. Carvill; Richard G. James; Douglas M. Fowler; Jeffrey D. Calhoun
Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification

结合变异效应的多重检测方法以增强BRCA2变异分类

Nature Communications
IF15.7
2026-04-090
OAAI
Chunling Hu; Sounak Sahu; Wenan Chen; Melissa Galloux; Marcy E. Richardson; Megan F. Bishop; Rachid Karam; Tina Pesaran; Jie Na; Huaizhi Huang; Jeffrey N. Weitzel; Katherine N. Nathanson; Siddhartha Yadav; Nicholas J. Boddicker; Susan M. Domchek; Alvaro N. Monteiro; Edwin S. Iversen; Shyam K. Sharan; Fergus J. Couch
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk

位点饱和度功能筛选确定与乳腺癌风险增加相关的PALB2错义变异

Nature Communications
IF15.7
2026-01-190
OAAI
Rick A.C.M. Boonen; Sabine C. Knaup; Roberta Menafra; Merel E. Braspenning; Magdalena B. Rother; Petra Kleiblova; Marketa Janatova; Dina Ruano; Chunling Hu; Huaizhi Huang; Vijai Joseph; Michael Conry; Stephan Heijl; Bas Vroling; Jelle J. Goeman; Matthew Varga; Marcy E. Richardson; Susan L. Kloet; Fergus J. Couch; Maaike P. G. Vreeswijk; Haico van Attikum
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
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
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

量化综合征表型（PP4）特异性证据：大规模整合来自HLRCC（遗传性平滑肌瘤病和肾细胞癌）及肾癌诊断实验室检测的罕见生殖系FH变异

Genetics in Medicine
IF6.2
2025-09-040
OAAI
Sophie Allen; Charlie F. Rowlands; Samantha Butler; Miranda Durkie; Carrie Horton; Tina Pesaran; Marcy Richardson; Rachel Robinson; Alice Garrett; George J. Burghel; Alison Callaway; Joanne Field; Bethan Frugtniet; Sheila Palmer-Smith; Jonathan Grant; Judith Pagan; Trudi McDevitt; Katie Snape; Avgi Andreou; Eamonn R. Maher; Helen Hanson; Terri McVeigh; Clare Turnbull
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.
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-11-012
OAAI
Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas v. O.; Pineda, Marta; Ritter, Deborah; de Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capella, Gabriel; Latchford, Andrew; Tavtigian, Sean, V; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan
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.
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.

研究方向

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T
Tina Pesaran
H 指数:33论文数:133被引数:6,202
F
Fergus J. Couch
H 指数:119论文数:1,336被引数:6.0万
Á
Álvaro N.A. Monteiro
H 指数:60论文数:473被引数:1.3万
A
Amanda B. Spurdle
H 指数:95论文数:816被引数:4.0万
R
Rachid Karam
H 指数:30论文数:132被引数:3,861
C
Chunling Hu
H 指数:41论文数:400被引数:7,148
M
Miguel de la Hoya
H 指数:56论文数:271被引数:1.0万
C
Colin C. Young
H 指数:17论文数:62被引数:3,146
M
Matthew J. Varga
H 指数:6论文数:20被引数:116
S
Susan M. Domchek
H 指数:104论文数:1,046被引数:4.9万