Benjamin B. Roa

6.5k total citations · 1 hit paper
65 papers, 4.3k citations indexed

About

Benjamin B. Roa is a scholar working on Molecular Biology, Genetics and Cellular and Molecular Neuroscience. According to data from OpenAlex, Benjamin B. Roa has authored 65 papers receiving a total of 4.3k indexed citations (citations by other indexed papers that have themselves been cited), including 28 papers in Molecular Biology, 27 papers in Genetics and 16 papers in Cellular and Molecular Neuroscience. Recurrent topics in Benjamin B. Roa's work include BRCA gene mutations in cancer (15 papers), Genomic variations and chromosomal abnormalities (13 papers) and Hereditary Neurological Disorders (12 papers). Benjamin B. Roa is often cited by papers focused on BRCA gene mutations in cancer (15 papers), Genomic variations and chromosomal abnormalities (13 papers) and Hereditary Neurological Disorders (12 papers). Benjamin B. Roa collaborates with scholars based in United States, Germany and Japan. Benjamin B. Roa's co-authors include James R. Lupski, Kelly A. Volcik, C. Sue Richards, Phillip F. Chance, Pragna I. Patel, Richard Wenstrup, Karla R. Bowles, Pentao Liu, Rajesh Kaldate and Carlos A. Garcia and has published in prestigious journals such as New England Journal of Medicine, Nature Genetics and Journal of Clinical Oncology.

In The Last Decade

Benjamin B. Roa

64 papers receiving 4.2k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

1996 581 citations Benjamin B. Roa et al. Nature Genetics profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Benjamin B. Roa United States	29	1.9k	1.8k	1.0k	795	636	65	4.3k
Hane Lee United States	34	3.7k 1.9×	1.1k 0.6×	410 0.4×	1.3k 1.7×	640 1.0×	86	5.3k
Joseph R. Marszalek United States	27	2.6k 1.3×	662 0.4×	394 0.4×	431 0.5×	925 1.5×	60	4.1k
John A. Alberta United States	30	2.5k 1.3×	339 0.2×	698 0.7×	698 0.9×	903 1.4×	46	4.5k
Edward V. Ball United Kingdom	17	3.8k 2.0×	2.4k 1.3×	225 0.2×	219 0.3×	558 0.9×	23	5.9k
Rakesh Nagarajan United States	30	1.8k 1.0×	417 0.2×	759 0.7×	332 0.4×	812 1.3×	60	3.3k
Ralf Krahe United States	40	3.9k 2.0×	602 0.3×	1.9k 1.8×	327 0.4×	471 0.7×	94	5.1k
Andreas Waha Germany	38	2.4k 1.3×	394 0.2×	228 0.2×	783 1.0×	766 1.2×	91	4.2k
Håkan Telenius United Kingdom	13	2.4k 1.3×	1.0k 0.6×	1.7k 1.6×	469 0.6×	270 0.4×	18	4.2k
Andrew D. Phillips United Kingdom	9	3.0k 1.5×	2.0k 1.1×	195 0.2×	171 0.2×	438 0.7×	10	4.8k
Christiane M. Robbins United States	22	2.8k 1.5×	848 0.5×	321 0.3×	605 0.8×	268 0.4×	37	4.3k

Countries citing papers authored by Benjamin B. Roa

Since Specialization

Citations

This map shows the geographic impact of Benjamin B. Roa's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Benjamin B. Roa with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Benjamin B. Roa more than expected).

Fields of papers citing papers by Benjamin B. Roa

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Benjamin B. Roa. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Benjamin B. Roa. The network helps show where Benjamin B. Roa may publish in the future.

Co-authorship network of co-authors of Benjamin B. Roa

This figure shows the co-authorship network connecting the top 25 collaborators of Benjamin B. Roa. A scholar is included among the top collaborators of Benjamin B. Roa based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Benjamin B. Roa. Benjamin B. Roa is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Pan, Shujuan, Hannah C. Cox, Erin Mundt, et al.. (2023). Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome. Frontiers in Oncology. 13. 1069467–1069467. 5 indexed citations

Gallagher, Shannon, Elisha Hughes, Allison W. Kurian, et al.. (2021). Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model. JCO Precision Oncology. 5(5). 1073–1081. 14 indexed citations

Mancini‐DiNardo, Debora, Thaddeus Judkins, John Kidd, et al.. (2019). Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing. BMC Medical Genomics. 12(1). 138–138. 16 indexed citations

Qian, Yaping, Debora Mancini‐DiNardo, Thaddeus Judkins, et al.. (2017). Identification of pathogenic retrotransposon insertions in cancer predisposition genes. Cancer Genetics. 216-217. 159–169. 29 indexed citations

Fang, Ping, Jerry Lin, Sandra Darilek, et al.. (2015). DNA sequence analysis and genotype–phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. BMJ Open. 5(5). e007506–e007506. 10 indexed citations

Clarke, Loren E., M. Bryan Warf, Darl D. Flake, et al.. (2015). Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma. Journal of Cutaneous Pathology. 42(4). 244–252. 108 indexed citations

Yurgelun, Matthew B., Brian Allen, Rajesh Kaldate, et al.. (2015). Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology. 149(3). 604–613.e20. 184 indexed citations

Pruss, Dmitry, Brian Morris, Elisha Hughes, et al.. (2014). Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. Breast Cancer Research and Treatment. 147(1). 119–132. 33 indexed citations

Au, Kit Sing, E. Steve Roach, Lori Batchelor, et al.. (2007). Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genetics in Medicine. 9(2). 88–100. 296 indexed citations

10.

Raskin, Salmo, Tetsuo Ashizawa, Hélio Afonso Ghizoni Teive, et al.. (2007). Reduced Penetrance in a Brazilian Family With Spinocerebellar Ataxia Type 10. Archives of Neurology. 64(4). 591–591. 30 indexed citations

11.

Roa, Benjamin B., Joseph F. Pulliam, Christine M. Eng, & Sau Wai Cheung. (2005). Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis. Expert Review of Molecular Diagnostics. 5(6). 883–892. 14 indexed citations

12.

Matsuura, Tohru, Ping Fang, Xi Lin, et al.. (2004). Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10. The American Journal of Human Genetics. 74(6). 1216–1224. 47 indexed citations

13.

Buyse, I., Sarah McCarthy, Eric Schmitt, et al.. (2004). Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: Evidence that 3199del6 is a disease-causing mutation. Genetics in Medicine. 6(5). 426–430. 8 indexed citations

14.

Mao, Rong, John F. O’Brien, Eric Schmitt, et al.. (2001). Identification of a 55-bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease: Phenotypic Presentation and Implications for Mutation Detection Assays. Molecular Genetics and Metabolism. 72(3). 248–253. 4 indexed citations

15.

Roa, Benjamin B., et al.. (1999). Ashkenazi Jewish Population Frequency of the Bloom Syndrome Gene 2281Δ6ins7 Mutation. Genetic Testing. 3(2). 219–221. 26 indexed citations

16.

Veyver, Ignatia B. Van den & Benjamin B. Roa. (1998). Applied molecular genetic techniques for prenatal diagnosis. Current Opinion in Obstetrics & Gynecology. 10(2). 97–103. 2 indexed citations

17.

Warner, Laura E., Benjamin B. Roa, & James R. Lupski. (1996). Absence ofPMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A. Human Mutation. 8(4). 362–365. 28 indexed citations

18.

Roa, Benjamin B., Laura E. Warner, Carlos A. Garcia, et al.. (1996). Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Human Mutation. 7(1). 36–45. 57 indexed citations

19.

Chance, Phillip F., Nacer Abbas, M. William Lensch, et al.. (1994). Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Human Molecular Genetics. 3(2). 223–228. 253 indexed citations

20.

Roa, Benjamin B., P. James B. Dyck, Harold G. Marks, Phillip F. Chance, & James R. Lupski. (1993). Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genetics. 5(3). 269–273. 210 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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