Laird G. Jackson

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

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 · 715 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato et al. · Nature · 2012 · 563 citations · Full text

Mendelian Disorder, Cohesin Acetylation Cycle, Genetic Disorder +8

The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities

George G. Rhoads, Laird G. Jackson, Sarah Schlesselman et al. · New England Journal of Medicine · 1989 · 474 citations

NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

Lynette A. Gillis, Jennifer McCallum, Maninder Kaur et al. · The American Journal of Human Genetics · 2004 · 312 citations · Full text

Genotype-phenotype Correlations, Mendelian Disorder, Genetic Disorder +9