J. David Brook

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

Signal Transduction, Mendelian Disorder, Genetic Disorder +7

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Jamie W. Foster, M. Dominguez-Steglich, Silvana Guioli et al. · Nature · 1994 · 1.6K citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Newbury-Ecob Ra, David I. Wilson, T Strachan et al. · Nature Genetics · 1997 · 925 citations

Developmental Anomaly, Genetic Disorder, Genetics +6

Targeted integration of adeno-associated virus (AAV) into human chromosome 19.

R. Jude Samulski, Xiaodong Zhu, Xiangwei Xiao et al. · The EMBO Journal · 1991 · 773 citations · Full text

Viral Replication, Human Chromosome 19, Immunology +6

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Helen G. Harley, J. David Brook, S.A. Rundle et al. · Nature · 1992 · 727 citations

Phenotypic Variation, Mendelian Disorder, Genetic Disorder +7