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Gene therapy for hearing loss
Omichi, Ryotaro, Shibata, Seiji B, Morton, Cynthia C, Smith, Richard J H
Published in Human molecular genetics (01.10.2019)
Published in Human molecular genetics (01.10.2019)
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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia M., Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David J., Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.
Published in Cell (27.04.2012)
Published in Cell (27.04.2012)
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Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China
Wang, Qiuju, Xiang, Jiale, Sun, Jun, Yang, Yun, Guan, Jing, Wang, Dayong, Song, Cui, Guo, Ling, Wang, Hongyang, Chen, Yaqiu, Leng, Junhong, Wang, Xiaman, Zhang, Junqing, Han, Bing, Zou, Jing, Yan, Chengbin, Zhao, Lidong, Luo, Hongyu, Han, Yuan, Yuan, Wen, Zhang, Hongyun, Wang, Wei, Wang, Jian, Yang, Huanming, Xu, Xun, Yin, Ye, Morton, Cynthia C., Zhao, Lijian, Zhu, Shida, Shen, Jun, Peng, Zhiyu
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
Talkowski, Michael E, Ordulu, Zehra, Pillalamarri, Vamsee, Benson, Carol B, Blumenthal, Ian, Connolly, Susan, Hanscom, Carrie, Hussain, Naveed, Pereira, Shahrin, Picker, Jonathan, Rosenfeld, Jill A, Shaffer, Lisa G, Wilkins-Haug, Louise E, Gusella, James F, Morton, Cynthia C
Published in The New England journal of medicine (06.12.2012)
Published in The New England journal of medicine (06.12.2012)
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Targeted insertion of conditional expression cassettes into the mouse genome using the modified i-PITT
Miura, Hiromi, Nakamura, Ayaka, Kurosaki, Aki, Kotani, Ai, Motojima, Masaru, Tanaka, Keiko, Kakuta, Shigeru, Ogiwara, Sanae, Ohmi, Yuhsuke, Komaba, Hirotaka, Schilit, Samantha L.P., Morton, Cynthia C., Gurumurthy, Channabasavaiah B., Ohtsuka, Masato
Published in BMC genomics (05.06.2024)
Published in BMC genomics (05.06.2024)
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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
Chiang, Colby, Jacobsen, Jessie C, Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E, Kirby, Andrew, Lindgren, Amelia M, Rudiger, Skye R, McLaughlan, Clive J, Bawden, C Simon, Reid, Suzanne J, Faull, Richard L M, Snell, Russell G, Hall, Ira M, Shen, Yiping, Ohsumi, Toshiro K, Borowsky, Mark L, Daly, Mark J, Lee, Charles, Morton, Cynthia C, MacDonald, Marcy E, Gusella, James F, Talkowski, Michael E
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Intravenous leiomyomatosis: an unusual intermediate between benign and malignant uterine smooth muscle tumors
Ordulu, Zehra, Nucci, Marisa R, Dal Cin, Paola, Hollowell, Monica L, Otis, Christopher N, Hornick, Jason L, Park, Peter J, Kim, Tae-Min, Quade, Bradley J, Morton, Cynthia C
Published in Modern pathology (01.05.2016)
Published in Modern pathology (01.05.2016)
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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
Talkowski, Michael E., Ernst, Carl, Heilbut, Adrian, Chiang, Colby, Hanscom, Carrie, Lindgren, Amelia, Kirby, Andrew, Liu, Shangtao, Muddukrishna, Bhavana, Ohsumi, Toshiro K., Shen, Yiping, Borowsky, Mark, Daly, Mark J., Morton, Cynthia C., Gusella, James F.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
Ordulu, Zehra, Kammin, Tammy, Brand, Harrison, Pillalamarri, Vamsee, Redin, Claire E., Collins, Ryan L., Blumenthal, Ian, Hanscom, Carrie, Pereira, Shahrin, Bradley, India, Crandall, Barbara F., Gerrol, Pamela, Hayden, Mark A., Hussain, Naveed, Kanengisser-Pines, Bibi, Kantarci, Sibel, Levy, Brynn, Macera, Michael J., Quintero-Rivera, Fabiola, Spiegel, Erica, Stevens, Blair, Ulm, Janet E., Warburton, Dorothy, Wilkins-Haug, Louise E., Yachelevich, Naomi, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Derivation of Embryonic Stem-Cell Lines from Human Blastocysts
Cowan, Chad A, Klimanskaya, Irina, McMahon, Jill, McMahon, Andrew P, Atienza, Jocelyn, Witmyer, Jeannine, Zucker, Jacob P, Wang, Shunping, Morton, Cynthia C, Powers, Doug, Melton, Douglas A
Published in The New England journal of medicine (25.03.2004)
Published in The New England journal of medicine (25.03.2004)
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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalia T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M, Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo
Published in Scientific reports (10.08.2023)
Published in Scientific reports (10.08.2023)
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A Comparative Analysis of Health-Related Quality of Life 1 Year Following Myomectomy or Uterine Artery Embolization: Findings from the COMPARE-UF Registry
Anchan, Raymond M, Wojdyla, Daniel, Bortoletto, Pietro, Terry, Kathryn, Disler, Emily, Milne, Ankrish, Gargiulo, Antonio, Petrozza, John, Brook, Olga, Srouji, Serene, Morton, Cynthia C, Greenberg, James, Wegienka, Ganesa, Stewart, Elizabeth A, Nicholson, Wanda K, Thomas, Laine, Venable, Sateria, Laughlin-Tommaso, Shannon, Diamond, Michael P, Maxwell, G Larry, Marsh, Erica E, Myers, Evan R, Vines, Anissa I, Wise, Lauren A, Wallace, Kedra, Jacoby, Vanessa L, Spies, James B
Published in Journal of women's health (Larchmont, N.Y. 2002) (01.04.2023)
Published in Journal of women's health (Larchmont, N.Y. 2002) (01.04.2023)
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Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature
Ordulu, Zehra, Wong, Kristen E., Currall, Benjamin B., Ivanov, Andrew R., Pereira, Shahrin, Althari, Sara, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
Saadi, Irfan, Alkuraya, Fowzan S., Gisselbrecht, Stephen S., Goessling, Wolfram, Cavallesco, Resy, Turbe-Doan, Annick, Petrin, Aline L., Harris, James, Siddiqui, Ursela, Grix, Arthur W., Hove, Hanne D., Leboulch, Philippe, Glover, Thomas W., Morton, Cynthia C., Richieri-Costa, Antonio, Murray, Jeffrey C., Erickson, Robert P., Maas, Richard L.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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A multi-stage genome-wide association study of uterine fibroids in African Americans
Hellwege, Jacklyn N., Jeff, Janina M., Wise, Lauren A., Gallagher, C. Scott, Wellons, Melissa, Hartmann, Katherine E., Jones, Sarah F., Torstenson, Eric S., Dickinson, Scott, Ruiz-Narváez, Edward A., Rohland, Nadin, Allen, Alexander, Reich, David, Tandon, Arti, Pasaniuc, Bogdan, Mancuso, Nicholas, Im, Hae Kyung, Hinds, David A., Palmer, Julie R., Rosenberg, Lynn, Denny, Joshua C., Roden, Dan M., Stewart, Elizabeth A., Morton, Cynthia C., Kenny, Eimear E., Edwards, Todd L., Velez Edwards, Digna R.
Published in Human genetics (01.10.2017)
Published in Human genetics (01.10.2017)
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