Ian D. Krantz

发表

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

Peter N. Robinson, Jeffrey W. Pennington, Aaron J. Masino, 2014, BMC Bioinformatics.

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Keith Marsolo, In-Hee Lee, Bria Morgan, 2019, Genetics in Medicine.

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Zhe Zhang, Katsuhiko Shirahige, Nancy B. Spinner, 2009, PLoS biology.

A Cohesin-Independent Role for NIPBL at Promoters Provides Insights in CdLS

Boris Lenhard, Ryuichiro Nakato, Jessica Zuin, 2014, PLoS genetics.

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Paul S. Meltzer, Francis S. Collins, Abdel G. Elkahloun, 1997, Nature Genetics.

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Heinrich Sticht, Avni Santani, Livija Medne, 2016, Orphanet Journal of Rare Diseases.

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Colin C. Collins, Yu Deng, Leroy Hood, 1997, Nature Genetics.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

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

Gabriele Gillessen-Kaesbach, Ryuichiro Nakato, Katsuhiko Shirahige, 2012, Nature.