Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

by Simranpreet Kaur, Nicole J. Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M. White, Carolyn Ellaway, John Christodoulou
Published 2019-12-01

The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji

by Laura K. Boelsen, Eileen M. Dunne, Moana Mika, Stefanie Eggers, Cattram D. Nguyen, F. Tupou Ratu, Fiona M. Russell, E. Kim Mulholland, Markus Hilty, Catherine Satzke
Published 2019-07-01

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).

by Vicki N Meyers-Wallen, Adam R Boyko, Charles G Danko, Jennifer K Grenier, Jason G Mezey, Jessica J Hayward, Laura M Shannon, Chuan Gao, Afrah Shafquat, Edward J Rice, Shashikant Pujar, Stefanie Eggers, Thomas Ohnesorg, Andrew H Sinclair
Published 2017-01-01

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

by Jocelyn A. van denBergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R. Grover, Philip B. Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R. Davis, Makato Ono, Vincent Harley, Sultana M. H. Faradz, Andrew H. Sinclair, Katie L. Ayers
Published 2020-03-01