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Expertise

Research Interests

Translational genomics of human telomeres in cancer, aging, and regenerative medicine; novel telomere-associated biomarkers.

Articles

Young, E., Pastor, S., Rajagopalan, R., McCaffrey, J., Sibert, J., Mak ACY, Kwok, P. Y., Riethman, H. C. and Xiao, M. (2017). High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.. Nucleic acids research 45 (9) , pp. e73.

Lynch, S. M.., Mitra, N., Ross, M., Newcomb, C., Dailey, K., Jackson, T., Zeigler-Johnson, C. M.., Riethman, H. C., Branas, C. C.. and Rebbeck, T. R.. (2017). A Neighborhood-Wide Association Study (NWAS): Example of prostate cancer aggressiveness. PLOS ONE 12 (3) , pp. 1-13.

Nelson, D. M., Jaber-Hijazi, F., Cole, J. J., Robertson, N. A., Pawlikowski, J. S., Norris, K. T., Criscione, S. W., Pchelintsev, N. A., Piscitello, D., Stong, N., Rai, T. S., McBryan, T., Otte, G. L., Nixon, C., Clark, W., Riethman, H. C., Wu, H., Schotta, G., Garcia, B. A., Neretti, N., Baird, D. M., Berger, S. L. and Adams, P. D. (2016). Mapping H4K20me3 onto the chromatin landscape of senescent cells indicates a function in control of cell senescence and tumor suppression through preservation of genetic and epigenetic stability.. Genome biology 17 (1) , pp. 158.

McCaffrey, J., Sibert, J., Zhang, B., Zhang, Y., Hu, W., Riethman, H. C. and Xiao, M. (2016). CRISPR-CAS9 D10A nickase target-specific fluorescent labeling of double strand DNA for whole genome mapping and structural variation analysis.. Nucleic acids research 44 (2) , pp. e11.

Tutton, S., Azzam, G. A., Stong, N., Vladimirova, O., Wiedmer, A., Monteith, J. A., Beishline, K., Wang, Z., Deng, Z., Riethman, H. C., McMahon, S. B., Murphy, M. and Lieberman, P. M. (2016). Subtelomeric p53 binding prevents accumulation of DNA damage at human telomeres.. The EMBO journal 35 (2) , pp. 193-207.

Sedic, M., Skibinski, A., Brown, N., Gallardo, M., Mulligan, P., Martinez, P., Keller, P. J., Glover, E., Richardson, A. L., Cowan, J., Toland, A. E., Ravichandran, K., Riethman, H. C., Naber, S. P., Näär, A. M., Blasco, M. A., Hinds, P. W. and Kuperwasser, C. (2015). Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence.. Nature communications 6 , pp. 7505.

Porro, A., Feuerhahn, S., Delafontaine, J., Riethman, H. C., Rougemont, J. and Lingner, J. (2014). Functional characterization of the TERRA transcriptome at damaged telomeres.. Nature communications 5 , pp. 5379.

Stong, N., Deng, Z., Gupta, R., Hu, S., Paul, S., Weiner, A. K., Eichler, E. E., Graves, T., Fronick, C. C., Courtney, L., Wilson, R. K., Lieberman, P. M., Davuluri, R. V. and Riethman, H. C. (2014). Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline.. Genome research 24 (6) , pp. 1039-50.

Deng, Z., Wang, Z., Stong, N., Plasschaert, R., Moczan, A., Chen, H. S., Hu, S., Wikramasinghe, P., Davuluri, R. V., Bartolomei, M. S., Riethman, H. C. and Lieberman, P. M. (2012). A role for CTCF and cohesin in subtelomere chromatin organization, TERRA transcription, and telomere end protection.. The EMBO journal 31 (21) , pp. 4165-78.

Conlin, L. K., Kramer, W., Hutchinson, A. L., Li , X., Riethman, H. C., Hakonarson, H., Mulley, J. C., Scheffer, I. E., Berkovic, S. F., Hosain, S. A. and Spinner, N. B. (2011). Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.. Journal of medical genetics 48 (1) , pp. 1-9.

Descipio, C., Morrissette, J. D., Conlin, L. K., Clark, D., Kaur, M., Coplan, J., Riethman, H. C., Spinner, N. B. and Krantz, I. D. (2010). Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.. American journal of medical genetics. Part A 152A (2) , pp. 373-82.

Butts, S., Riethman, H. C., Ratcliffe, S., Shaunik, A., Coutifaris, C. and Barnhart, K. (2009). Correlation of telomere length and telomerase activity with occult ovarian insufficiency.. The Journal of clinical endocrinology and metabolism 94 (12) , pp. 4835-43.

Deng, Z., Norseen, J., Wiedmer, A., Riethman, H. C. and Lieberman, P. M. (2009). TERRA RNA binding to TRF2 facilitates heterochromatin formation and ORC recruitment at telomeres.. Molecular cell 35 (4) , pp. 403-13.

Lou, Z., Wei, J., Riethman, H. C., Baur, J. A., Voglauer, R., Shay, J. W. and Wright, W. E. (2009). Telomere length regulates ISG15 expression in human cells.. Aging 1 (7) , pp. 608-21.

Tsipouri, V., Schueler, M. G., Hu, S., Dutra, A., Pak, E., Riethman, H. C. and Green, E. D. (2008). Comparative sequence analyses reveal sites of ancestral chromosomal fusions in the Indian muntjac genome.. Genome biology 9 (10) , pp. R155.

DeScipio, C., Spinner, N. B., Kaur, M., Yaeger, D., Conlin, L. K., Ambrosini, A., Hu, S., Shan, S., Krantz, I. D. and Riethman, H. C. (2008). Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.. American journal of medical genetics. Part A 146A (6) , pp. 730-9.

Riethman, H. C. (2008). Human subtelomeric copy number variations.. Cytogenetic and genome research 123 (1-4) , pp. 244-52.

Riethman, H. C. (2008). Human telomere structure and biology.. Annual review of genomics and human genetics 9 , pp. 1-19.

Ambrosini, A., Paul, S., Hu, S. and Riethman, H. C. (2007). Human subtelomeric duplicon structure and organization.. Genome biology 8 (7) , pp. R151.

Riethman, H. C., Ambrosini, A. and Paul, S. (2005). Human subtelomere structure and variation.. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 13 (5) , pp. 505-15.

Gibbs, R. A., Weinstock, G. M., Metzker, M. L., Muzny, D. M., Sodergren, E. J., Scherer, S., Scott, G., Steffen, D., Worley, K. C., Burch, P. E., Okwuonu, G., Hines, S., Lewis, L., DeRamo, C., Delgado, O., Dugan-Rocha, S., Miner, G., Morgan, M., Hawes, A., Gill, R., Celera, Holt, R. A., Adams, M. D., Amanatides, P. G., Baden-Tillson, H., Barnstead, M., Chin, S., Evans, C. A., Ferriera, S., Fosler, C., Glodek, A., Gu, Z., Jennings, D., Kraft, C. L., Nguyen, T., Pfannkoch, C. M., Sitter, C., Sutton, G. G., Venter, J. C., Woodage, T., Smith, D., Lee, H. M., Gustafson, E., Cahill, P., Kana, A., Doucette-Stamm, L., Weinstock, K., Fechtel, K., Weiss, R. B., Dunn, D. M., Green, E. D., Blakesley, R. W., Bouffard, G. G., De Jong, P. J., Osoegawa, K., Zhu, B., Marra, M., Schein, J., Bosdet, I., Fjell, C., Jones, S., Krzywinski, M., Mathewson, C., Siddiqui, A., Wye, N., McPherson, J., Zhao, S., Fraser, C. M., Shetty, J., Shatsman, S., Geer, K., Chen, Y., Abramzon, S., Nierman, W. C., Havlak, P. H., Chen, R., Durbin, K. J., Egan, A., Ren, Y., Song, X. Z., Li , B., Liu, Y., Qin, X., Cawley, S., Worley, K. C., Cooney, A. J., D'Souza, L. M., Martin, K., Wu, J. Q., Gonzalez-Garay, M. L., Jackson, A. R., Kalafus, K. J., McLeod, M. P., Milosavljevic, A., Virk, D., Volkov, A., Wheeler, D. A., Zhang, Z., Bailey, J. A., Eichler, E. E., Tuzun, E., Birney, E., Mongin, E., Ureta-Vidal, A., Woodwark, C., Zdobnov, E., Bork, P., Suyama, M., Torrents, D., Alexandersson, M., Trask, B. J., Young, J. M., Huang, H., Wang, H., Xing, H., Daniels, S., Gietzen, D., Schmidt, J., Stevens, K., Vitt, U., Wingrove, J., Camara, F., Mar Albà, M., Abril, J. F., Guigo, R., Smit, A., Dubchak, I., Rubin, E. M., Couronne, O., Poliakov, A., Hübner, N., Ganten, D., Goesele, C., Hummel, O., Kreitler, T., Lee, Y. A., Monti, J., Schulz, H., Zimdahl, H., Himmelbauer, H., Lehrach, H., Jacob, H. J., Bromberg, S., Gullings-Handley, J., Jensen-Seaman, M. I., Kwitek, A. E., Lazar, J., Pasko, D., Tonellato, P. J., Twigger, S., Ponting, C. P., Duarte, J. M., Rice, S., Goodstadt, L., Beatson, S. A., Emes, R. D., Winter, E. E., Webber, C., Brandt, P., Nyakatura, G., Adetobi, M., Chiaromonte, F., Elnitski, L., Eswara, P., Hardison, R. C., Hou, M., Kolbe, D., Makova, K., Miller, W., Nekrutenko, A., Riemer, C., Schwartz, S., Taylor, J., Yang, S., Zhang, Y., Lindpaintner, K., Andrews, T. D., Caccamo, M., Clamp, M., Clarke, L., Curwen, V., Durbin, R., Eyras, E., Searle, S. M., Cooper, G. M., Batzoglou, S., Brudno, M., Sidow, A., Stone, E. A., Venter, J. C., Payseur, B. A., Bourque, G., López-Otín, C., Puente, X. S., Chakrabarti, K., Chatterji, S., Dewey, C., Pachter, L., Bray, N., Yap, V. B., Caspi, A., Tesler, G., Pevzner, P. A., Haussler, D., Roskin, K. M., Baertsch, R., Clawson, H., Furey, T. S., Hinrichs, A. S., Karolchik, D., Kent, W. J., Rosenbloom, K. R., Trumbower, H., Weirauch, M., Cooper, D. N., Stenson, P. D., Ma, B., Brent, M., Arumugam, M., Shteynberg, D., Copley, R. R., Taylor, M. S., Riethman, H. C., Mudunuri, U., Peterson, J., Guyer, M., Felsenfeld, A., Old, S., Mockrin, S. and Collins, F. (2004). Genome sequence of the Brown Norway rat yields insights into mammalian evolution.. Nature 428 (6982) , pp. 493-521.

Riethman, H. C., Ambrosini, A., Castaneda, C., Finklestein, J., Hu, X. L., Mudunuri, U., Paul, S. and Wei, J. (2004). Mapping and initial analysis of human subtelomeric sequence assemblies.. Genome research 14 (1) , pp. 18-28.

Ning, Y., Xu, J. F., Li , Y., Chavez, L., Riethman, H. C., Lansdorp, P. M. and Weng, N. P. (2003). Telomere length and the expression of natural telomeric genes in human fibroblasts.. Human molecular genetics 12 (11) , pp. 1329-36.

Riethman, H. C., Ambrosini, A., Castaneda, C., Finklestein, J. M., Hu, X. L., Paul, S. and Wei, J. (2003). Human subtelomeric DNA.. Cold Spring Harbor symposia on quantitative biology 68 , pp. 39-47.

Xiang, Z., Morse, E., Hu, X. L., Flint, J., Chi, H. C., Grady, D. L., Moyzis, R. K. and Riethman, H. C. (2001). A sequence-ready map of the human chromosome 1q telomere.. Genomics 72 (1) , pp. 105-7.

Riethman, H. C., Xiang, Z., Paul, S., Morse, E., Hu, X. L., Flint, J., Chi, H. C., Grady, D. L. and Moyzis, R. K. (2001). Integration of telomere sequences with the draft human genome sequence.. Nature 409 (6822) , pp. 948-51.

Knight, S. J., Lese, C. M., Precht, K. S., Kuc, J., Ning, Y., Lucas, S., Regan, R., Brenan, M., Nicod, A., Lawrie, N. M., Cardy, D. L., Nguyen, H., Hudson, T. J., Riethman, H. C., Ledbetter, D. H. and Flint, J. (2000). An optimized set of human telomere clones for studying telomere integrity and architecture.. American journal of human genetics 67 (2) , pp. 320-32.

Lese, C. M., Fantes, J. A., Riethman, H. C. and Ledbetter, D. H. (1999). Characterization of physical gap sizes at human telomeres.. Genome research 9 (9) , pp. 888-94.

Xiang, Z., Hu, X. L., Flint, J. and Riethman, H. C. (1999). A sequence-ready map of the human chromosome 17p telomere.. Genomics 58 (2) , pp. 207-10.

Riethman, H. C. (1997). Closing in on telomeric closure.. Genome research 7 (9) , pp. 853-5.

Russell, M. W., Munroe, D. J., Bric, E., Housman, D. E., Dietz-Band, J., Riethman, H. C., Collins, F. S. and Brody, L. C. (1996). A 500-kb physical map and contig from the Harvey ras-1 gene to the 11p telomere.. Genomics 35 (2) , pp. 353-60.

Negorev, D., Riethman, H. C., Wechsler-Reya, R., Sakamuro, D., Prendergast, G. C. and Simon, D. (1996). The Bin1 Gene Localizes to Human Chromosome 2q14 by PCR Analysis of Somatic Cell Hybrids and Fluorescence in Situ Hybridization. Genomics 33 (2) , pp. 329-31.

Negorev, D., Riethman, H. C., Wechsler-Reya, R., Sakamuro, D., Prendergast, G. C. and Simon, D. (1996). The Bin1 gene localizes to human chromosome 2q14 by PCR analysis of somatic cell hybrids and fluorescence in situ hybridization.. Genomics 33 (2) , pp. 329-31.

Macina, R. A., Morii, K., Hu, X. L., Negorev, D. G., Spais, C., Ruthig, L. A. and Riethman, H. C. (1995). Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres.. Genome research 5 (3) , pp. 225-32.

Tomlinson, I. M., Cook, G. P., Walter, G., Carter, N. P., Riethman, H. C., Buluwela, L., Rabbitts, T. H. and Winter, G. (1995). A complete map of the human immunoglobulin VH locus.. Annals of the New York Academy of Sciences 764 , pp. 43-6.

Macina, R. A., Barr, F. G., Galili, N. and Riethman, H. C. (1995). Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma.. Genomics 26 (1) , pp. 1-8.

Reston, J. T., Hu, X. L., Macina, R. A., Spais, C. and Riethman, H. C. (1995). Structure of the terminal 300 kb of DNA from human chromosome 21q.. Genomics 26 (1) , pp. 31-8.

Macina, R. A., Negorev, D. G., Spais, C., Ruthig, L. A., Hu, X. L. and Riethman, H. C. (1994). Sequence organization of the human chromosome 2q telomere.. Human molecular genetics 3 (10) , pp. 1847-53.

Macina, R. A. and Riethman, H. C. (1994). Mapping vector-adjacent DNA from a 7q human telomeric YAC using RARE.. Mammalian genome : official journal of the International Mammalian Genome Society 5 (9) , pp. 596.

Negorev, D. G., Macina, R. A., Spais, C., Ruthig, L. A., Hu, X. L. and Riethman, H. C. (1994). Physical analysis of the terminal 270 kb of DNA from human chromosome 1q.. Genomics 22 (3) , pp. 569-78.

Cook, G. P., Tomlinson, I. M., Walter, G., Riethman, H. C., Carter, N. P., Buluwela, L., Winter, G. and Rabbitts, T. H. (1994). A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromosome 14q.. Nature genetics 7 (2) , pp. 162-8.

Strathdee, G., Harrison, W., Riethman, H. C., Goodart, S. A. and Overhauser, J. (1994). Interstitial deletions are not the main mechanism leading to 18q deletions.. American journal of human genetics 54 (6) , pp. 1085-91.

Popp, S., Jauch, A., Schindler, D., Speicher, M. R., Lengauer, C., Donis-Keller, H., Riethman, H. C. and Cremer, T. (1993). A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones.. Human genetics 92 (6) , pp. 527-32.

Riethman, H. C., Spais, C., Buckingham, J., Grady, D. and Moyzis, R. K. (1993). Physical analysis of the terminal 240 kb of DNA from human chromosome 7q.. Genomics 17 (1) , pp. 25-32.

Lengauer, C., Speicher, M. R., Popp, S., Jauch, A., Taniwaki, M., Nagaraja, R., Riethman, H. C., Donis-Keller, H., D'Urso, M. and Schlessinger, D. (1993). Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes.. Human molecular genetics 2 (5) , pp. 505-12.

Helms, C., Mishra, S. K., Riethman, H. C., Burgess, A. K., Ramachandra, S., Tierney, C., Dorsey, D. and Donis-Keller, H. (1992). Closure of a genetic linkage map of human chromosome 7q with centromere and telomere polymorphisms.. Genomics 14 (4) , pp. 1041-54.

Lengauer, C., Riethman, H. C., Speicher, M. R., Taniwaki, M., Konecki, D., Green, E. D., Becher, R., Olson, M. V. and Cremer, T. (1992). Metaphase and interphase cytogenetics with Alu-PCR-amplified yeast artificial chromosome clones containing the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erbB-2.. Cancer research 52 (9) , pp. 2590-6.

Macina, R. A. and Riethman, H. C. (1992). Direct DNA hybridization screening of primary yeast transformants in the construction of targeted yeast artificial chromosome (YAC) libraries.. Genetic analysis, techniques and applications 9 (2) , pp. 58-63.

Green, E. D., Riethman, H. C., Dutchik, J. E. and Olson, M. V. (1991). Detection and characterization of chimeric yeast artificial-chromosome clones.. Genomics 11 (3) , pp. 658-69.

Lengauer, C., Riethman, H. C. and Cremer, T. (1990). Painting of human chromosomes with probes generated from hybrid cell lines by PCR with Alu and L1 primers.. Human genetics 86 (1) , pp. 1-6.

Dietz-Band, J., Riethman, H. C., Hildebrand, C. E. and Moyzis, R. (1990). Characterization of polymorphic loci on a telomeric fragment of DNA from the long arm of human chromosome 7.. Genomics 8 (1) , pp. 168-70.

Riethman, H. C., Moyzis, R. K., Meyne, J., Burke, D. T. and Olson, M. V. (1989). Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector.. Proceedings of the National Academy of Sciences of the United States of America 86 (16) , pp. 6240-4.

Riethman, H. C. and Sherman, L. A. (1988). Immunological Characterization of Iron-Regulated Membrane Proteins in the Cyanobacterium Anacystis nidulans R2.. Plant physiology 88 (2) , pp. 497-505.

Riethman, H. C., Bullerjahn, G., Reddy, K. J. and Sherman, L. A. (1988). Regulation of cyanobacterial pigment-protein composition and organization by environmental factors.. Photosynthesis research 18 (1-2) , pp. 133-61.

Riethman, H. C. and Sherman, L. A. (1988). Purification and characterization of an iron stress-induced chlorophyll-protein from the cyanobacterium Anacystis nidulans R2.. Biochimica et biophysica acta 935 (2) , pp. 141-51.

Riethman, H. C., Mawhinney, T. P. and Sherman, L. A. (1988). Characterization of phycobilisome glycoproteins in the cyanobacterium Anacystis nidulans R2.. Journal of bacteriology 170 (6) , pp. 2433-40.

Masamoto, K., Riethman, H. C. and Sherman, L. A. (1987). Isolation and Characterization of a Carotenoid-Associated Thylakoid Protein from the Cyanobacterium Anacystis nidulans R2.. Plant physiology 84 (3) , pp. 633-9.

Riethman, H. C., Mawhinney, T. P. and Sherman, L. A. (1987). Phycobilisome-associated glycoproteins in the cyanobacterium Anacystis nidulans R 2.. FEBS letters 215 (2) , pp. 209-14.

Riethman, H. C., Boyer, M. J. and Wise, K. S. (1987). Triton X-114 phase fractionation of an integral membrane surface protein mediating monoclonal antibody killing of Mycoplasma hyorhinis.. Infection and immunity 55 (5) , pp. 1094-100.

Bullerjahn, G. S., Riethman, H. C. and Sherman, L. A. (1985). Organization of the thylakoid membrane from the heterotrophic cyanobacterium, Aphanocapsa 6714.. Biochimica et biophysica acta 810 (2) , pp. 148-57.

Pakrasi, H. B., Riethman, H. C. and Sherman, L. A. (1985). Organization of pigment proteins in the photosystem II complex of the cyanobacterium Anacystis nidulans R2.. Proceedings of the National Academy of Sciences of the United States of America 82 (20) , pp. 6903-7.

Presentations

Riethman, H. C. (May , 2017). Global high throughput subtelomere and haplotype-specific telomere lengths Oral Presentation Telomeres and Telomerase Cold Spring Harbor New York.

Riethman, H. C. (December , 2016). Single-molecule telomere analysis Oral Presentation Eighteenth Principal Investigators Meeting, Innovative Molecular Analysis Technologies Program Bethesda, MD.

Riethman, H. C. (February 29, 2016). New Approaches for Understanding Telomere Function in Health and Disease Lecture Norfolk, VA.

Riethman, H. C. (November 12, 2015). A Novel single-molecule telomere characterization technology for analyzing cancer. Poster Sixteenth Principal Investigators Meeting, Innovative Molecular Analysis Technologies Program NIH, Bethesda, MD.

Riethman, H. C. (May 15, 2015). Novel Approaches for Understanding Telomere Biology”, ������ Lecture Norfolk, VA.

Riethman, H. C. (February 20, 2015). Novel Genomic and Computational Approaches for Analysis of Telomere Function Lecture Philadelphia, PA.

(February 10, 2015). Novel Computational and Experimental Genomic Approaches for Understanding Telomere Biology and Pathology Lecture Buffalo, NY.