Low number of mitochondrial pseudogenes in the chicken (Gallus gallus) nuclear genome: implications for molecular inference of population history and phylogenetics

by Pereira, Sérgio L, Baker, Allan J
Published 2004

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

by Fernandez, Bridget A, Green, Jane S, Bursey, Ford, Barrett, Brendan, MacMillan, Andrée, McColl, Sarah, Fernandez, Sara, Rahman, Proton, Mahoney, Krista, Pereira, Sergio L, Scherer, Stephen W, Boycott, Kym M, Woods, Michael O
Published 2012

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

by Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L., Herbrick, Jo-Anne, Blencowe, Benjamin J., Roifman, Chaim M., Scherer, Stephen W.
Published 2015

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

by Marshall, Christian R, Farrell, Sandra A, Cushing, Donna, Paton, Tara, Stockley, Tracy L, Stavropoulos, Dimitri J, Ray, Peter N, Szego, Michael, Lau, Lynette, Pereira, Sergio L, Cohn, Ronald D, Wintle, Richard F, Abuzenadah, Adel M, Abu-Elmagd, Muhammad, Scherer, Stephen W
Published 2015