Hope H. Punnett

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

Isabel M. Hanson, Judy Fletcher, Tim Jordan et al. · Nature Genetics · 1994 · 494 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +8

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

Cheni Kwok, P A Weller, Silvana Guioli et al. · PubMed · 1995 · 205 citations

The association of the DiGeorge anomalad with partial monosomy of chromosome 22

Richard I. Kelley, Elaine H. Zackai, Beverly S. Emanuel et al. · The Journal of Pediatrics · 1982 · 193 citations

Cytogenetics, Genetic Disorder, Genetics +9

Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

R Hughes-Benzie, Giuseppe Pilia, J.Y. Xuan et al. · American Journal of Medical Genetics · 1996 · 136 citations

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.

Gerard Tromp, Helena Kuivaniemi, Steven Raphael et al. · PubMed · 1996 · 132 citations