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)

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)