Benjamin B. Roa

6.5k citations

65 papers · 4.3k indexed · 1 hit paper · h-index 29

Impact in

Genetics top 1%
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
Cellular and Molecular Neuroscience top 2%
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases

Papers in ⓘ

Genetics 27
- BRCA gene mutations in cancer 15
- Genomic variations and chromosomal abnormalities 13
Cellular and Molecular Neuroscience 16
- Hereditary Neurological Disorders 12
- Genetic Neurodegenerative Diseases 9

Co-authors: James R. Lupski (12 shared papers)Kelly A. Volcik (1 shared paper)C. Sue Richards (1 shared paper)Phillip F. Chance (4 shared papers)Pragna I. Patel (3 shared papers)Richard Wenstrup (11 shared papers)Karla R. Bowles (11 shared papers)Pentao Liu (2 shared papers)
Journals: Human Mutation (6 papers)Cancer (4 papers)The American Journal of Human Genetics (4 papers)Nature Genetics (4 papers)JCO Precision Oncology (4 papers)
Partner nations: United States Germany Japan

In The Last Decade

Benjamin B. Roa

64 papers receiving 4.2k citations

Hit Papers

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Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 1996 · 581 citations

Peers

Countries citing papers authored by Benjamin B. Roa

Since Specialization

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

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#	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	581
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	415
3	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, S. K. Bhatnagar, 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	307
4	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	296
5	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	264
6	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, Pentao Liu, Benjamin B. Roa, Pragna I. Patel, James R. Lupski	1994	253
7	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	210
8	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	184
9	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	132
10	Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A Nature Genetics ·Benjamin B. Roa, Carlos A. Garcia, Pentao Liu, James M. Killian, Barbara J. Trask, Ueli Suter, G. Jackson Snipes, Rocío Ortiz‐López, Eric M. Shooter, Pragna I. Patel, James R. Lupski	1993	130
11	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	128
12	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	108
13	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	96
14	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	78
15	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	74
16	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, Keith Hyland, Teodoro Bottiglieri, Robert J. Hopkin, Elizabeth Peach, Sang Hee Min, David Goldman, Benjamin B. Roa, Carlos A. Bacino, Fernando Scaglia	2007	68
17	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	64
18	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	60
19	Angiotensinogen and endothelial nitric oxide synthase gene polymorphisms among Hispanic patients with preeclampsia American Journal of Obstetrics and Gynecology ·Michael T. Bashford, Lukas Hefler, Thomas W. Vertreesb, Benjamin B. Roa, Anthony R. Gregg	2001	59
20	Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease Human Mutation ·Benjamin B. Roa, Laura E. Warner, Carlos A. Garcia, Donna Russo, Robert E. Lovelace, Phillip F. Chance, James R. Lupski	1996	57

About Benjamin B. Roa

Benjamin B. Roa is a scholar working on Genetics, Cellular and Molecular Neuroscience, Cancer Research, Sensory Systems and Pathology and Forensic Medicine, having authored 65 papers that have together received 4.3k indexed citations. Recurring topics across this work include BRCA gene mutations in cancer (15 papers), Genomic variations and chromosomal abnormalities (13 papers), Hereditary Neurological Disorders (12 papers), Cancer Genomics and Diagnostics (11 papers), Genetic factors in colorectal cancer (9 papers), DNA Repair Mechanisms (9 papers), Genetic Neurodegenerative Diseases (9 papers) and CRISPR and Genetic Engineering (5 papers). The work is most often cited by research in Genetics (1.8k citations), Cellular and Molecular Neuroscience (1.0k citations), Neurology (359 citations), Cancer Research (636 citations) and Pathology and Forensic Medicine (608 citations). Benjamin B. Roa has collaborated with scholars based in United States, Germany and Japan. Frequent 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. Their work appears in journals such as Human Mutation, Cancer, The American Journal of Human Genetics, Nature Genetics and JCO Precision Oncology.

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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