Judith Goodship

DiGeorge syndrome: part of CATCH 22.

David I. Wilson, John Burn, Peter Scambler et al. · Journal of Medical Genetics · 1993 · 511 citations · Full text

Genetics, Pathology, Congenital Heart Anomaly +17

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago et al. · Nature Genetics · 2011 · 277 citations

Somatic Variant, Autoimmune Disease, Mendelian Disorder +5

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

John Burn, Atsuyoshi Takao, David I. Wilson et al. · Journal of Medical Genetics · 1993 · 269 citations · Full text

Probe Do832, Developmental Anomaly, Genetic Disorder +11

A population study of chromosome 22q11 deletions in infancy

Judith Goodship, I Cross, Jesse Li‐Ling et al. · Archives of Disease in Childhood · 1998 · 250 citations · Full text

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

Deborah Mackay, Susanne E. Boonen, Jill Clayton‐Smith et al. · Human Genetics · 2006 · 190 citations

Diabetes, Pediatrics, Gynecology +7