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

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

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

Tekijä 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
Julkaistu 2014

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

Tekijä 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
Julkaistu 2013