Mary Pat Reeve

FinnGen provides genetic insights from a well-phenotyped isolated population

Mitja Kurki, Juha Karjalainen, Priit Palta et al. · Nature · 2023 · 3.8K citations · Full text

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Marjon van Slegtenhorst, Ronald De Hoogt, Caroline Hermans et al. · Science · 1997 · 1.7K citations

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Sandra L. Dabora, Sergiusz Jóźwiak, David Neal Franz et al. · The American Journal of Human Genetics · 2001 · 991 citations · Full text

Mutational Analysis, Mendelian Disorder, Genetic Disorder +10

The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned

Richa Saxena, Laura Brown, Trevor Hawkins et al. · Nature Genetics · 1996 · 438 citations

Chromatin, Developmental Biology, Daz Gene Cluster +9

FinnGen: Unique genetic insights from combining isolated population and national health register data

Mitja Kurki, Juha Karjalainen, Priit Palta et al. · 2022 · 412 citations · Full text

Genetic Testing, Genetics, Genetic Epidemiology +21