Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

Daniel Pinkel, Richard Segraves, Damir Sudar et al. · Nature Genetics · 1998 · 2.2K citations

Life Sciences, Genetics, Molecular Biology +16

A Physical Map of 30,000 Human Genes

Panos Deloukas, Gregory D. Schuler, Gàbor Gyapay et al. · Science · 1998 · 714 citations

Life Sciences, Genetics, Molecular Genetics +17

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Phillip T. Brook-Carter, Belén Peral, Christopher J. Ward et al. · Nature Genetics · 1994 · 510 citations

Life Sciences, Genetics, Molecular Genetics +16

Subtle chromosomal rearrangements in children with unexplained mental retardation

Samantha J.L. Knight, Regina Regan, A Nicod et al. · The Lancet · 1999 · 453 citations

Life Sciences, Genetics, Pediatrics +14

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

J Sampson, Magitha M. Maheshwar, Richard Aspinwall et al. · The American Journal of Human Genetics · 1997 · 373 citations

Medicine, Genetics, Molecular Genetics +12