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

Sebastian Köhler, Sandra C. Doelken, Chris Mungall, +44

Nucleic Acids Research

EngineeringGeneticsUpdated Hpo DatabaseGenetic EpidemiologyMolecular Biology +17

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, +18

Nature Genetics

Genome InstabilityDevelopmental BiologyGenetic DisorderGeneticsLange Syndrome +6

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

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, +39

Nature

Mendelian DisorderCohesin Acetylation CycleGenetic DisorderGeneticsLange Syndrome +6

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

George G. Rhoads, Laird G. Jackson, Sarah Schlesselman, +17

New England Journal of Medicine

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

Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, +8

The American Journal of Human Genetics

Genotype-phenotype CorrelationsMendelian DisorderGenetic DisorderGeneticsLange Syndrome +7

A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling

Laird G. Jackson, Julia Zachary, Sarah Fowler, +8

New England Journal of Medicine

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

Ann B. Moser, Magnhild Rasmussen, Sakkubai Naidu, +14

The Journal of Pediatrics

Clinical DisordersMendelian DisorderGenetic DisorderMedicineInherited Metabolic Disease +5

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Jinglan Liu, Zhe Zhang, Masashige Bando, +12

PLoS Biology

ChromatinTranscriptional RegulationDevelopmental BiologyCell RegulationCell Division +11

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

Thomas P. Yang, Pragna I. Patel, A. Craig Chinault, +4

Nature

Hprt LocusNew MutationSomatic VariantMendelian DisorderMolecular Evidence +8

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz, +80

Human Molecular Genetics

GeneticsImmunodeficienciesGenetic EpidemiologyPathologyMolecular Genetics +25