Dora Stauffer

TL;DR: Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage, indicating that ABCR is the causal gene of STGD/FFM.

TL;DR: A sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family is identified, identifying one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels.

TL;DR: The inherited genetic defect in adenomatous polyposis has been localized to a small region on the long arm of chromosome 5.

TL;DR: The mapping of an epilepsy gene to a specific chromosomal region is reported, on the basis of cosegregation of two closely-linked DNA markers with a form of epilepsy known as benign familial neonatal convulsions, which is the first step towards the isolation of a gene involved in neuronal activity in the human brain.

TL;DR: Four new families have been ascertained in which the phenotypic pattern was different from classical polyposis but similar to that of the "prototype" kindred reported earlier, and the establishment of genetic linkage in such families may point to the APC locus as having a more significant role in inherited predispositions to colorectal cancer than was previously thought.