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)

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person

Por O’Rawe, Jason A., Fang, Han, Rynearson, Shawn, Robison, Reid, Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J.
Publicado em 2013

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)

Indel variant analysis of short-read sequencing data with Scalpel

Por Fang, Han, Bergmann, Ewa A, Arora, Kanika, Vacic, Vladimir, Zody, Michael C, Iossifov, Ivan, O’Rawe, Jason A, Wu, Yiyang, Barron, Laura T Jimenez, Rosenbaum, Julie, Ronemus, Michael, Lee, Yoon-ha, Wang, Zihua, Dikoglu, Esra, Jobanputra, Vaidehi, Lyon, Gholson J, Wigler, Michael, Schatz, Michael C, Narzisi, Giuseppe
Publicado no Nat Protoc (2016)

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)