Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays
Homer, Nils, Szelinger, Szabolcs, Redman, Margot, Duggan, David, Tembe, Waibhav, Muehling, Jill, Pearson, John V, Stephan, Dietrich A, Nelson, Stanley F, Craig, David W
Published in PLoS genetics (01.08.2008)
Published in PLoS genetics (01.08.2008)
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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, Hane, Deignan, Joshua L, Dorrani, Naghmeh, Strom, Samuel P, Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L, Martinez-Agosto, Julian A, Wong, Derek A, Chang, Vivian Y, Shieh, Perry B, Palmer, Christina G. S, Dipple, Katrina M, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F
Published in JAMA : the journal of the American Medical Association (12.11.2014)
Published in JAMA : the journal of the American Medical Association (12.11.2014)
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A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells
Young, Courtney S., Hicks, Michael R., Ermolova, Natalia V., Nakano, Haruko, Jan, Majib, Younesi, Shahab, Karumbayaram, Saravanan, Kumagai-Cresse, Chino, Wang, Derek, Zack, Jerome A., Kohn, Donald B., Nakano, Atsushi, Nelson, Stanley F., Miceli, M. Carrie, Spencer, Melissa J., Pyle, April D.
Published in Cell stem cell (07.04.2016)
Published in Cell stem cell (07.04.2016)
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ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs
Hicks, Michael R., Hiserodt, Julia, Paras, Katrina, Fujiwara, Wakana, Eskin, Ascia, Jan, Majib, Xi, Haibin, Young, Courtney S., Evseenko, Denis, Nelson, Stanley F., Spencer, Melissa J., Handel, Ben Van, Pyle, April D.
Published in Nature cell biology (01.01.2018)
Published in Nature cell biology (01.01.2018)
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Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning
Cokus, Shawn J, Feng, Suhua, Zhang, Xiaoyu, Chen, Zugen, Merriman, Barry, Haudenschild,Christian D, Pradhan, Sriharsa, Nelson, Stanley F, Pellegrini, Matteo, Jacobsen, Steven E
Published in Nature (13.03.2008)
Published in Nature (13.03.2008)
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Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
Sathirapongsasuti, Jarupon Fah, Lee, Hane, Horst, Basil A. J., Brunner, Georg, Cochran, Alistair J., Binder, Scott, Quackenbush, John, Nelson, Stanley F.
Published in Bioinformatics (01.10.2011)
Published in Bioinformatics (01.10.2011)
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Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia
Fogel, Brent L, Lee, Hane, Deignan, Joshua L, Strom, Samuel P, Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne W, Perlman, Susan, Geschwind, Daniel H, Nelson, Stanley F
Published in JAMA neurology (01.10.2014)
Published in JAMA neurology (01.10.2014)
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Targeted Therapy Resistance Mediated by Dynamic Regulation of Extrachromosomal Mutant EGFR DNA
Nathanson, David A., Gini, Beatrice, Mottahedeh, Jack, Visnyei, Koppany, Koga, Tomoyuki, Gomez, German, Estin, Ascia, Hwang, Kiwook, Wang, Jun, Masui, Kenta, Paucar, Andres, Yang, Huijun, Ohashi, Minori, Zhu, Shaojun, Wykosky, Jill, Reed, Rachel, Nelson, Stanley F., Cloughesy, Timothy F., James, C. David, Rao, P. Nagesh, Kornblum, Harley I., Heath, James R., Cavenee, Webster K., Furnari, Frank B., Mischel, Paul S.
Published in Science (American Association for the Advancement of Science) (03.01.2014)
Published in Science (American Association for the Advancement of Science) (03.01.2014)
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U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line
Clark, Michael James, Homer, Nils, O'Connor, Brian D, Chen, Zugen, Eskin, Ascia, Lee, Hane, Merriman, Barry, Nelson, Stanley F
Published in PLoS genetics (01.01.2010)
Published in PLoS genetics (01.01.2010)
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DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
Palomaki, Glenn E, Kloza, Edward M, Lambert-Messerlian, Geralyn M, Haddow, James E, Neveux, Louis M, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T, Deciu, Cosmin, Grody, Wayne W, Nelson, Stanley F, Canick, Jacob A
Published in Genetics in medicine (01.11.2011)
Published in Genetics in medicine (01.11.2011)
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Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
Baxter, Ruth M, Arboleda, Valerie A, Lee, Hane, Barseghyan, Hayk, Adam, Margaret P, Fechner, Patricia Y, Bargman, Renee, Keegan, Catherine, Travers, Sharon, Schelley, Susan, Hudgins, Louanne, Mathew, Revi P, Stalker, Heather J, Zori, Roberto, Gordon, Ora K, Ramos-Platt, Leigh, Pawlikowska-Haddal, Anna, Eskin, Ascia, Nelson, Stanley F, Délot, Emmanuèle, Vilain, Eric
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
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EGFR Mutation-Induced Alternative Splicing of Max Contributes to Growth of Glycolytic Tumors in Brain Cancer
Babic, Ivan, Anderson, Erik S., Tanaka, Kazuhiro, Guo, Deliang, Masui, Kenta, Li, Bing, Zhu, Shaojun, Gu, Yuchao, Villa, Genaro R., Akhavan, David, Nathanson, David, Gini, Beatrice, Mareninov, Sergey, Li, Rui, Camacho, Carolina Espindola, Kurdistani, Siavash K., Eskin, Ascia, Nelson, Stanley F., Yong, William H., Cavenee, Webster K., Cloughesy, Timothy F., Christofk, Heather R., Black, Douglas L., Mischel, Paul S.
Published in Cell metabolism (04.06.2013)
Published in Cell metabolism (04.06.2013)
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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Palomaki, Glenn E., Deciu, Cosmin, Kloza, Edward M., Lambert-Messerlian, Geralyn M., Haddow, James E., Neveux, Louis M., Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Grody, Wayne W., Nelson, Stanley F., Canick, Jacob A.
Published in Genetics in medicine (01.03.2012)
Published in Genetics in medicine (01.03.2012)
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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P., Deignan, Joshua L., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.
Published in Genetics in medicine (01.07.2014)
Published in Genetics in medicine (01.07.2014)
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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B, McLean, Catriona A, Kornberg, Andrew J, Joseph, Jörg, Lockhart, Paul J, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Koehler, Carla M, Jen, Joanna C
Published in Brain (London, England : 1878) (01.11.2016)
Published in Brain (London, England : 1878) (01.11.2016)
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Joint mouse–human phenome-wide association to test gene function and disease risk
Wang, Xusheng, Pandey, Ashutosh K., Mulligan, Megan K., Williams, Evan G., Mozhui, Khyobeni, Li, Zhengsheng, Jovaisaite, Virginija, Quarles, L. Darryl, Xiao, Zhousheng, Huang, Jinsong, Capra, John A., Chen, Zugen, Taylor, William L., Bastarache, Lisa, Niu, Xinnan, Pollard, Katherine S., Ciobanu, Daniel C., Reznik, Alexander O., Tishkov, Artem V., Zhulin, Igor B., Peng, Junmin, Nelson, Stanley F., Denny, Joshua C., Auwerx, Johan, Lu, Lu, Williams, Robert W.
Published in Nature communications (02.02.2016)
Published in Nature communications (02.02.2016)
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