A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
Eggington, J.M., Bowles, K.R., Moyes, K., Manley, S., Esterling, L., Sizemore, S., Rosenthal, E., Theisen, A., Saam, J., Arnell, C., Pruss, D., Bennett, J., Burbidge, L.A., Roa, B., Wenstrup, R.J.
Published in Clinical genetics (01.09.2014)
Published in Clinical genetics (01.09.2014)
Get full text
Journal Article
Clinical significance of large rearrangements in BRCA1 and BRCA2
Judkins, Thaddeus, Rosenthal, Eric, Arnell, Christopher, Burbidge, Lynn Anne, Geary, Wade, Barrus, Toby, Schoenberger, Jeremy, Trost, Jeffrey, Wenstrup, Richard J., Roa, Benjamin B.
Published in Cancer (01.11.2012)
Published in Cancer (01.11.2012)
Get full text
Journal Article
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
Au, Kit Sing, Williams, Aimee T, Roach, E Steve, Batchelor, Lori, Sparagana, Steven P, Delgado, Mauricio R, Wheless, James W, Baumgartner, James E, Roa, Benjamin B, Wilson, Carolyn M, Smith-Knuppel, Teresa K, Cheung, Min-Yuen C, Whittemore, Vicky H, King, Terri M, Northrup, Hope
Published in Genetics in medicine (01.02.2007)
Published in Genetics in medicine (01.02.2007)
Get full text
Journal Article
Lipophorin receptors regulate mushroom body development and complex behaviors in Drosophila
Rojo-Cortés, Francisca, Fuenzalida-Uribe, Nicolás, Tapia-Valladares, Victoria, Roa, Candy B, Hidalgo, Sergio, González-Ramírez, María-Constanza, Oliva, Carlos, Campusano, Jorge M, Marzolo, María-Paz
Published in BMC biology (07.09.2022)
Published in BMC biology (07.09.2022)
Get full text
Journal Article
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
Roa, Benjamin B, Boyd, Alfred A, Volcik, Kelly, Richards, C. Sue
Published in Nature genetics (01.10.1996)
Published in Nature genetics (01.10.1996)
Get full text
Journal Article
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome
Pan, Shujuan, Cox, Hannah, Willmott, Jamie, Mundt, Erin, Gorringe, Heidi, Landon, Michelle, Bowles, Karla R, Coffee, Bradford, Roa, Benjamin B, Mancini-DiNardo, Debora
Published in Frontiers in oncology (30.01.2023)
Published in Frontiers in oncology (30.01.2023)
Get full text
Journal Article
Comparative and population genomic landscape of Phellinus noxius: A hypervariable fungus causing root rot in trees
Chung, Chia‐Lin, Lee, Tracy J., Akiba, Mitsuteru, Lee, Hsin‐Han, Kuo, Tzu‐Hao, Liu, Dang, Ke, Huei‐Mien, Yokoi, Toshiro, Roa, Marylette B., Lu, Mei‐Yeh J., Chang, Ya‐Yun, Ann, Pao‐Jen, Tsai, Jyh‐Nong, Chen, Chien‐Yu, Tzean, Shean‐Shong, Ota, Yuko, Hattori, Tsutomu, Sahashi, Norio, Liou, Ruey‐Fen, Kikuchi, Taisei, Tsai, Isheng J.
Published in Molecular ecology (01.11.2017)
Published in Molecular ecology (01.11.2017)
Get full text
Journal Article
Mutation of TDP1 , encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
Lupski, James R, Takashima, Hiroshi, Boerkoel, Cornelius F, John, Joy, Saifi, Gulam Mustafa, Salih, Mustafa A.M, Armstrong, Dawna, Mao, Yuxin, Quiocho, Florante A, Roa, Benjamin B, Nakagawa, Masanori, Stockton, David W
Published in Nature genetics (01.10.2002)
Published in Nature genetics (01.10.2002)
Get full text
Journal Article
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
Mancini-DiNardo, Debora, Judkins, Thaddeus, Kidd, John, Bernhisel, Ryan, Daniels, Courtney, Brown, Krystal, Meek, Kirsten, Craft, Jonathan, Holladay, Jayson, Morris, Brian, Roa, Benjamin B
Published in BMC medical genomics (17.10.2019)
Published in BMC medical genomics (17.10.2019)
Get full text
Journal Article
Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier?
Matsuura, Tohru, Fang, Ping, Pearson, Christopher E., Jayakar, Parul, Ashizawa, Tetsuo, Roa, Benjamin B., Nelson, David L.
Published in American journal of human genetics (01.01.2006)
Published in American journal of human genetics (01.01.2006)
Get full text
Journal Article
Identification of pathogenic retrotransposon insertions in cancer predisposition genes
Qian, Yaping, Mancini-DiNardo, Debora, Judkins, Thaddeus, Cox, Hannah C., Brown, Krystal, Elias, Maria, Singh, Nanda, Daniels, Courtney, Holladay, Jayson, Coffee, Bradford, Bowles, Karla R., Roa, Benjamin B.
Published in Cancer genetics (01.10.2017)
Published in Cancer genetics (01.10.2017)
Get full text
Journal Article
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10
Teive, H A G, Roa, B B, Raskin, S, Fang, P, Arruda, W O, Neto, Y Correa, Gao, R, Werneck, L C, Ashizawa, T
Published in Neurology (26.10.2004)
Published in Neurology (26.10.2004)
Get more information
Journal Article
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
del Gaudio, Daniela, Fang, Ping, Scaglia, Fernando, Ward, Patricia A, Craigen, William J, Glaze, Daniel G, Neul, Jeffrey L, Patel, Ankita, Lee, Jennifer A, Irons, Mira, Berry, Susan A, Pursley, Amber A, Grebe, Theresa A, Freedenberg, Debra, Martin, Rick A, Hsich, Gary E, Khera, Jena R, Friedman, Neil R, Zoghbi, Huda Y, Eng, Christine M, Lupski, James R, Beaudet, Arthur L, Cheung, Sau Wai, Roa, Benjamin B
Published in Genetics in medicine (01.12.2006)
Published in Genetics in medicine (01.12.2006)
Get full text
Journal Article
GOOGLE EARTH ENGINE: APPLICATION OF ALGORITHMS FOR REMOTE SENSING OF CROPS IN TUSCANY (ITALY)
Clemente, J. P., Fontanelli, G., Ovando, G. G., Roa, Y. L. B., Lapini, A., Santi, E.
Published in International archives of the photogrammetry, remote sensing and spatial information sciences. (06.11.2020)
Published in International archives of the photogrammetry, remote sensing and spatial information sciences. (06.11.2020)
Get full text
Journal Article
Conference Proceeding
ON THE FEASIBILITY OF APPLYING ORBITAL CORRECTIONS TO SAOCOM-1 DATA WITH FREE OPEN SOURCE SOFTWARE (FOSS) TO GENERATE DIGITAL SURFACE MODELS: A CASE STUDY IN ARGENTINA
Seppi, S. A., Solarte Casanova, E. A., Roa, Y. L. B., Euillades, L., Gaute, M.
Published in International archives of the photogrammetry, remote sensing and spatial information sciences. (19.08.2021)
Published in International archives of the photogrammetry, remote sensing and spatial information sciences. (19.08.2021)
Get full text
Journal Article
Conference Proceeding
Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms
Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y., Roa, Benjamin B.
Published in American journal of human genetics (01.12.2000)
Published in American journal of human genetics (01.12.2000)
Get full text
Journal Article
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
Moretti, P, Sahoo, T, Hyland, K, Bottiglieri, T, Peters, S, del Gaudio, D, Roa, B, Curry, S, Zhu, H, Finnell, R H, Neul, J L, Ramaekers, V T, Blau, N, Bacino, C A, Miller, G, Scaglia, F
Published in Neurology (22.03.2005)
Published in Neurology (22.03.2005)
Get more information
Journal Article
Body Surface Area–based Dosing of 5-Fluoruracil Results in Extensive Interindividual Variability in 5-Fluorouracil Exposure in Colorectal Cancer Patients on FOLFOX Regimens
Saam, Jennifer, Critchfield, Gregory C, Hamilton, Stephanie A, Roa, Benjamin B, Wenstrup, Richard J, Kaldate, Rajesh R
Published in Clinical colorectal cancer (01.09.2011)
Published in Clinical colorectal cancer (01.09.2011)
Get full text
Journal Article