Benjamin B. Roa

7.0k citations

67 papers · 5.1k · 1 hit paper · h-index 31

Impact in

Cellular and Molecular Neuroscience top 1%
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
Genetics top 0.5%
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities

Papers in

Genetics 24
- BRCA gene mutations in cancer 14
- Genomic variations and chromosomal abnormalities 7
Molecular Biology 18
- DNA Repair Mechanisms 6

Co-authors: James R. Lupski (12 shared papers)C. Sue Richards (1 shared paper)Kelly A. Volcik (1 shared paper)Pragna I. Patel (4 shared papers)Phillip F. Chance (4 shared papers)Richard Wenstrup (11 shared papers)G. Jackson Snipes (3 shared papers)Karla R. Bowles (12 shared papers)
Journals: Human Mutation (6 papers)Nature Genetics (5 papers)JCO Precision Oncology (4 papers)Journal of Clinical Oncology (4 papers)The American Journal of Human Genetics (4 papers)
Partner nations: United States Germany Canada

In The Last Decade

Benjamin B. Roa

66 papers receiving 4.9k citations

Benjamin B. Roa's Hit Papers

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Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 1996 · 611 citations

Peers

Countries citing papers authored by Benjamin B. Roa

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Citations

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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-authors

The 25 scholars most cited alongside Benjamin B. Roa, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Benjamin B. Roa Line = papers co-authored together Benjamin B. Roa links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 67 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 Nature Genetics ·Benjamin B. Roa, Alfred A. Boyd, Kelly A. Volcik, C. Sue Richards Hit paper breakdown →	1996	611
2	Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy Nature Genetics ·Hiroshi Takashima, Cornelius F. Boerkoel, Joy John, Gulam Mustafa Saifi, Mustafa A. Salih, Dawna Armstrong, Yuxin Mao, Florante A. Quiocho, Benjamin B. Roa, Masanori Nakagawa, David W. Stockton, James R. Lupski	2002	438
3	The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A Nature Genetics ·Pragna I. Patel, Benjamin B. Roa, Welcher Aa, R Schoener-Scott, Barbara J. Trask, (unknown), G. Jackson Snipes, García Ca, Uta Francke, Shooter Em, Lupski, Ueli Suter	1992	431
4	Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel Cancer ·Nadine Tung, Chiara Battelli, Brian Allen, Rajesh Kaldate, (unknown), Karla R. Bowles, Kirsten M. Timms, Judy E. Garber, Christina I. Herold, Leif W. Ellisen, Jill Krejdovsky, Kim DeLeonardis, Kristin Sedgwick, Kathleen A. Soltis, Benjamin B. Roa, Richard Wenstrup, Anne‐Renee Hartman	2014	325
5	Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in Medicine ·Kit Sing Au, Aimee T. Williams, E. Steve Roach, Lori Batchelor, Steven Sparagana, Mauricio R. Delgado, James W. Wheless, James E. Baumgartner, Benjamin B. Roa, Carolyn M. Wilson, Teresa K. Smith-Knuppel, Min-Yuen C. Cheung, Vicky Whittemore, Terri M. King, Hope Northrup	2007	324
6	Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene New England Journal of Medicine ·Benjamin B. Roa, Carlos A. Garcia, Ueli Suter, Deanna A. Kulpa, Carol A. Wise, J.J. Mueller, Andrew A. Welcher, G. Jackson Snipes, Eric M. Shooter, Pragna I. Patel, James R. Lupski	1993	279
7	Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 Human Molecular Genetics ·Phillip F. Chance, Nacer Abbas, M. William Lensch, (unknown), Benjamin B. Roa, Pragna I. Patel, James R. Lupski	1994	265
8	Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene Nature Genetics ·Benjamin B. Roa, P. James B. Dyck, Harold G. Marks, Phillip F. Chance, James R. Lupski	1993	224
9	Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome Gastroenterology ·Matthew B. Yurgelun, Brian Allen, Rajesh Kaldate, Karla R. Bowles, Thaddeus Judkins, Praveen Kaushik, Benjamin B. Roa, Richard Wenstrup, Anne‐Renee Hartman, Sapna Syngal	2015	195
10	Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization Genetics in Medicine ·Trilochan Sahoo, Sau Wai Cheung, Patricia A. Ward, Sandra Darilek, Ankita Patel, Daniela del Gaudio, Sung Hae L. Kang, Seema R. Lalani, Jiangzhen Li, Sallie McAdoo, Audrey Burke, Chad A. Shaw, Paweł Stankiewicz, A. Craig Chinault, Ignatia B. Van den Veyver, Benjamin B. Roa, Arthur L. Beaudet, Christine M. Eng	2006	148
11	Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A Nature Genetics ·Benjamin B. Roa, Carlos A. Garcia, (unknown), James M. Killian, Barbara J. Trask, Ueli Suter, G. Jackson Snipes, Rocio Ortı́z-López, Eric M. Shooter, Pragna I. Patel, James R. Lupski	1993	139
12	Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms The American Journal of Human Genetics ·I. Buyse, Ping Fang, Katherine T. Hoon, Ruthie E. Amir, Huda Y. Zoghbi, Benjamin B. Roa	2000	135
13	Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma Journal of Cutaneous Pathology ·Loren E. Clarke, M. Bryan Warf, Darl D. Flake, Anne‐Renee Hartman, Steven R. Tahan, Christopher R. Shea, Pedram Gerami, Jane L. Messina, Scott R. Florell, Richard Wenstrup, Kristen Rushton, Kirstin M. Roundy, Colleen Rock, Benjamin B. Roa, Kathryn A. Kolquist, Alexander Gutin, Steven D. Billings, Sancy A. Leachman	2015	116
14	Clinical significance of large rearrangements in BRCA1 and BRCA2 Cancer ·Thaddeus Judkins, Eric T. Rosenthal, Christopher Arnell, Lynn Anne Burbidge, Wade Geary, Toby Barrus, Jeremy Schoenberger, Jeffrey T. Trost, Richard Wenstrup, Benjamin B. Roa	2012	105
15	Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk BMC Cancer ·Thaddeus Judkins, Benoît Leclair, Karla R. Bowles, Natalia Gutin, Jeff Trost, James McCulloch, (unknown), Adam Murray, Jonathan Craft, B B Wardell, Mark Bastian, Jeffrey T. Mitchell, Jian Chen, Thanh V. Tran, Deborah Williams, Jennifer Potter, Srikanth Jammulapati, M. D. Perry, Brian Morris, Benjamin B. Roa, Kirsten M. Timms	2015	84
16	Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier? The American Journal of Human Genetics ·Tohru Matsuura, Ping Fang, Christopher E. Pearson, Parul Jayakar, Tetsuo Ashizawa, Benjamin B. Roa, David L. Nelson	2005	83
17	An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi Cancer ·Loren E. Clarke, Darl D. Flake, Klaus J. Busam, Clay J. Cockerell, Klaus F. Helm, Jennifer M. McNiff, Jon A. Reed, Jaime A. Tschen, Jinah Kim, Raymond L. Barnhill, Rosalie Elenitsas, Víctor G. Prieto, Jonathan W. Nelson, Hillary Z. Kimbrell, Kathryn A. Kolquist, Krystal Brown, M. Bryan Warf, Benjamin B. Roa, Richard Wenstrup	2016	80
18	Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency Journal of Autism and Developmental Disorders ·Paolo Moretti, Sarika U. Peters, Daniela del Gaudio, Trilochan Sahoo, (unknown), Teodoro Bottiglieri, Robert J. Hopkin, Elizabeth Peach, Sang Hee Min, David Goldman, Benjamin B. Roa, Carlos A. Bacino, Fernando Scaglia	2007	76
19	Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes JAMA Network Open ·Shannon Gallagher, Elisha Hughes, Susanne Wagner, Placede Tshiaba, Eric T. Rosenthal, Benjamin B. Roa, Allison W. Kurian, Susan M. Domchek, Judy E. Garber, Johnathan M. Lancaster, Jeffrey N. Weitzel, Alexander Gutin, Jerry S. Lanchbury, Mark E. Robson	2020	66
20	DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls American Journal of Medical Genetics Part A ·Hsiao‐Yuan Tang, Ping Fang, Patricia A. Ward, Eric Schmitt, Sandra Darilek, Spiros Manolidis, John S. Oghalai, Benjamin B. Roa, Raye Lynn Alford	2006	61

About Benjamin B. Roa

Benjamin B. Roa is a scholar working on Genetics, Molecular Biology, Cellular and Molecular Neuroscience, Oncology and Pathology and Forensic Medicine, having authored 67 papers that have together received 5.1k indexed citations. Recurring topics across this work include BRCA gene mutations in cancer (14 papers), Hereditary Neurological Disorders (13 papers), Genetic Neurodegenerative Diseases (9 papers), Genomic variations and chromosomal abnormalities (7 papers), DNA Repair Mechanisms (6 papers), Genetic factors in colorectal cancer (6 papers), Prenatal Screening and Diagnostics (5 papers) and Cancer Genomics and Diagnostics (5 papers). The work is most often cited by research in Cellular and Molecular Neuroscience (1.5k citations), Genetics (1.8k citations), Neurology (482 citations), Cancer Research (533 citations) and Neurology (484 citations). Benjamin B. Roa has collaborated with scholars based in United States, Germany and Canada. Frequent co-authors include James R. Lupski, C. Sue Richards, Kelly A. Volcik, Pragna I. Patel, Phillip F. Chance, Richard Wenstrup, G. Jackson Snipes, Karla R. Bowles, Barbara J. Trask and Rajesh Kaldate. Their work appears in journals such as Human Mutation, Nature Genetics, JCO Precision Oncology, Journal of Clinical Oncology and The American Journal of Human Genetics.

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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Benjamin B. Roa

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