Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

by Nara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen L Oswald, Eric L Stevens, Dongliang Ge, Kevin V Shianna, Jason P Smith, Jessica M Maia, Curtis E Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie E Hoover-Fong, David B Goldstein
Published 2010-06-01

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

by Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali
Published 2021-04-01

The characterization of twenty sequenced human genomes.

by Kimberly Pelak, Kevin V Shianna, Dongliang Ge, Jessica M Maia, Mingfu Zhu, Jason P Smith, Elizabeth T Cirulli, Jacques Fellay, Samuel P Dickson, Curtis E Gumbs, Erin L Heinzen, Anna C Need, Elizabeth K Ruzzo, Abanish Singh, C Ryan Campbell, Linda K Hong, Katharina A Lornsen, Alexander M McKenzie, Nara L M Sobreira, Julie E Hoover-Fong, Joshua D Milner, Ruth Ottman, Barton F Haynes, James J Goedert, David B Goldstein
Published 2010-09-01