Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation

Birth Defects: Original Article Series.

Annals of Internal Medicine · 1971 · 1.4K citations

Medicine, Obstetrics, Pediatrics +14

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

S. Hebsgaard · Nucleic Acids Research · 1996 · 824 citations · Full text

Life Sciences, Bioinformatics, Genetics +8

Prediction of human mRNA donor and acceptor sites from the DNA sequence

Søren Brunak, Jacob Engelbrecht, Steen Knudsen · Journal of Molecular Biology · 1991 · 806 citations

Life Sciences, Bioinformatics, Molecular Biology +12

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 722 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Emma Tonkin, Tzu-Jou Wang, Steven Lisgo et al. · Nature Genetics · 2004 · 597 citations

Life Sciences, Genetics, Molecular Genetics +8