Author

Anne-Louise Richardson

Observed names: A Richardson, A. L. Richardson

Institution: BC Children's Hospital

Observed institutions: The University of Sydney, University of Cambridge, Brown University, Royal North Shore Hospital, BC Children's Hospital, The University of Texas Southwestern Medical Center

OpenAlex ID: A5110176100

Allelic imbalance, including deletion ofPTEN/MMAC1, at the Cowden disease locus on 10q22-23, in hamartomas from patients with cowden syndrome and germlinePTEN mutation

1998 · Debbie J. Marsh, Patricia L. M. Dahia, et al. · Genes Chromosomes and Cancer · 100

Extensive and selective mutation of a rearranged VH5 gene in human B cell chronic lymphocytic leukemia.

1992 · J Cai, C Humphries, et al. · The Journal of Experimental Medicine · 60

A Rapid Screening Method for the Detection of Mutations in the RET Proto-oncogene in Multiple Endocrine Neoplasia Type 2A and Familial Medullary Thyroid Carcinoma Families

1994 · Debbie J. Marsh, Bruce G. Robinson, et al. · Genomics · 51

Partial trisomy 8 (trisomy 8q2106 leads to 8qter).

1977 · D Abuelo, D P Perl, et al. · Journal of Medical Genetics · 11

Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.

1988 · A S Knisely, A Richardson, et al. · Journal of Medical Genetics · 7

MEN TYPE 2a PRESENTING AS AN INTRA‐ABDOMINAL EMERGENCY

1997 · J. P. Evans, C. P. Bambach, et al. · Australian and New Zealand Journal of Surgery · 6

Familial juvenile onset Alexander Disease demonstrating germline mosaicism and presenting with a tumor-like mass of the medulla

2021 · C Dunham, M Sargent, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Works count: 7

Citation count: 235

H-index: 6

I10-index: 4