Hope H. Punnett
St. Christopher's Hospital for Children(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Renal and related cancers, Genetic Syndromes and Imprinting
Most-Cited Works
- → Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly(1994)494 cited
- Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.(1995)
- → The association of the DiGeorge anomalad with partial monosomy of chromosome 22(1982)193 cited
- → Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families(1996)136 cited
- Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.(1996)
- → Possible Graft-versus-Host Reaction after Intrauterine Transfusion for Rh Erythroblastosis Fetalis(1969)121 cited
- → Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families(1988)120 cited