Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline

Por Jiménez-Barrón, Laura T., O'Rawe, Jason A., Wu, Yiyang, Yoon, Margaret, Fang, Han, Iossifov, Ivan, Lyon, Gholson J.
Publicado no Cold Spring Harb Mol Case Stud (2015)

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Por Fang, Han, Wu, Yiyang, Yang, Hui, Yoon, Margaret, Jiménez-Barrón, Laura T., Mittelman, David, Robison, Reid, Wang, Kai, Lyon, Gholson J.
Publicado no BMC Med Genomics (2017)

Accurate detection of de novo and transmitted indels within exome-capture data using micro-assembly

Por Narzisi, Giuseppe, O'Rawe, Jason A., Iossifov, Ivan, Fang, Han, Lee, Yoon-ha, Wang, Zihua, Wu, Yiyang, Lyon, Gholson J., Wigler, Michael, Schatz, Michael C.
Publicado em 2014

Reducing INDEL calling errors in whole genome and exome sequencing data

Por Fang, Han, Wu, Yiyang, Narzisi, Giuseppe, O’Rawe, Jason A, Barrón, Laura T Jimenez, Rosenbaum, Julie, Ronemus, Michael, Iossifov, Ivan, Schatz, Michael C, Lyon, Gholson J
Publicado no Genome Med (2014)

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

Por O'Rawe, Jason, Jiang, Tao, Sun, Guangqing, Wu, Yiyang, Wang, Wei, Hu, Jingchu, Bodily, Paul, Tian, Lifeng, Hakonarson, Hakon, Johnson, W Evan, Wei, Zhi, Wang, Kai, Lyon, Gholson J
Publicado em 2013

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Por Myklebust, Line M., Van Damme, Petra, Støve, Svein I., Dörfel, Max J., Abboud, Angèle, Kalvik, Thomas V., Grauffel, Cedric, Jonckheere, Veronique, Wu, Yiyang, Swensen, Jeffrey, Kaasa, Hanna, Liszczak, Glen, Marmorstein, Ronen, Reuter, Nathalie, Lyon, Gholson J., Gevaert, Kris, Arnesen, Thomas
Publicado no Hum Mol Genet (2015)

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Por O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publicado no Am J Hum Genet (2015)