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List of works by Ian D Krantz

A taxonomy of medical uncertainties in clinical genome sequencing

scientific article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

scientific article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

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

scientific article published on 01 February 2020

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

scientific article

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

scientific article published on 03 March 2015

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

article

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

scientific article published on 21 April 2015

International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium

scientific article published on 19 August 2020

Interpretation of association signals and identification of causal variants from genome-wide association studies

scientific article

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

scientific article

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

scientific article published on March 2009

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

scientific article published on 04 September 2019

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