| Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer FJ Couch, SN Hart, P Sharma, AE Toland, X Wang, P Miron, JE Olson, ... Journal of clinical oncology 33 (4), 304-311, 2015 | 751 | 2015 |
| Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ... Jama 313 (13), 1347-1361, 2015 | 577 | 2015 |
| A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general … AC Antoniou, X Wang, ZS Fredericksen, L McGuffog, R Tarrell, ... Nature genetics 42 (10), 885-892, 2010 | 406 | 2010 |
| A review of a multifactorial probability‐based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) NM Lindor, L Guidugli, X Wang, MP Vallée, ANA Monteiro, S Tavtigian, ... Human mutation 33 (1), 8-21, 2012 | 245 | 2012 |
| Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2 L Guidugli, A Carreira, SM Caputo, A Ehlen, A Galli, ANA Monteiro, ... Human mutation 35 (2), 151-164, 2014 | 136 | 2014 |
| A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity L Guidugli, VS Pankratz, N Singh, J Thompson, CA Erding, C Engel, ... Cancer research 73 (1), 265-275, 2013 | 135 | 2013 |
| BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk AB Spurdle, PJ Whiley, B Thompson, B Feng, S Healey, MA Brown, ... Journal of medical genetics 49 (8), 525-532, 2012 | 133 | 2012 |
| Evaluation of ACMG-guideline-based variant classification of cancer susceptibility and non-cancer-associated genes in families affected by breast cancer KN Maxwell, SN Hart, J Vijai, KA Schrader, TP Slavin, T Thomas, ... The American Journal of Human Genetics 98 (5), 801-817, 2016 | 130 | 2016 |
| A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases SF Kingsmore, LD Smith, CM Kunard, M Bainbridge, S Batalov, W Benson, ... The American Journal of Human Genetics 109 (9), 1605-1619, 2022 | 101 | 2022 |
| BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer H Shimelis, RLS Mesman, C Von Nicolai, A Ehlen, L Guidugli, C Martin, ... Cancer research 77 (11), 2789-2799, 2017 | 99 | 2017 |
| BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis G Mondal, M Rowley, L Guidugli, J Wu, VS Pankratz, FJ Couch Developmental cell 23 (1), 137-152, 2012 | 99 | 2012 |
| Assessment of the clinical relevance of BRCA2 missense variants by functional and computational approaches L Guidugli, H Shimelis, DL Masica, VS Pankratz, GB Lipton, N Singh, ... The American Journal of Human Genetics 102 (2), 233-248, 2018 | 92 | 2018 |
| Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases FM De La Vega, S Chowdhury, B Moore, E Frise, J McCarthy, ... Genome Medicine 13, 1-19, 2021 | 90 | 2021 |
| Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing PJ Whiley, M De La Hoya, M Thomassen, A Becker, R Brandão, ... Clinical chemistry 60 (2), 341-352, 2014 | 85 | 2014 |
| Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes M Sun, AK Johnson, V Nelakuditi, L Guidugli, D Fischer, K Arndt, L Ma, ... Genetics in Medicine 21 (1), 195-206, 2019 | 82 | 2019 |
| Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes L Guidugli, AK Johnson, G Alkorta-Aranburu, V Nelakuditi, K Arndt, ... Leukemia 31 (5), 1226-1229, 2017 | 70 | 2017 |
| DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers A Osorio, RL Milne, K Kuchenbaecker, T Vaclová, G Pita, R Alonso, ... PLoS genetics 10 (4), e1004256, 2014 | 66 | 2014 |
| Rare variants in XRCC2 as breast cancer susceptibility alleles FS Hilbers, JT Wijnen, N Hoogerbrugge, JC Oosterwijk, MJ Collee, ... Journal of medical genetics 49 (10), 618-620, 2012 | 64 | 2012 |
| A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance MA Caligo, F Bonatti, L Guidugli, P Aretini, A Galli Human mutation 30 (1), 123-133, 2009 | 58 | 2009 |
| Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from … PJ Whiley, L Guidugli, LC Walker, S Healey, BA Thompson, SR Lakhani, ... Human mutation 32 (6), 678-687, 2011 | 53 | 2011 |
