Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

por Ewing, Adam D., Cheetham, Seth W., McGill, James J., Sharkey, Michael, Walker, Rick, West, Jennifer A., West, Malcolm J., Summers, Kim M.
Publicado en Am J Med Genet A (2021)

Polyclonal T-Cells Express CD1a in Langerhans Cell Histiocytosis (LCH) Lesions

por West, Jennifer A., Olsen, Sharon L., Mitchell, Jenée M., Priddle, Ross E., Luke, Jennifer M., Åkefeldt, Selma Olsson, Henter, Jan-Inge, Turville, Christopher, Kannourakis, George
Publicado 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

por McInerney-Leo, Aideen M, Marshall, Mhairi S, Gardiner, Brooke, Coucke, Paul J, Van Laer, Lut, Loeys, Bart L, Summers, Kim M, Symoens, Sofie, West, Jennifer A, West, Malcolm J, Paul Wordsworth, B, Zankl, Andreas, Leo, Paul J, Brown, Matthew A, Duncan, Emma L
Publicado 2013