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Publications by Ian D. Krantz
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
Diagnostic Utility of Genome-Wide DNA Methylation Testing in Genetically Unsolved Individuals With Suspected Hereditary Conditions
American Journal of Human Genetics
Genetics
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: A Computational Phenotype-Driven Approach
European Journal of Human Genetics
Genetics
Homozygosity for the V37IGJB2mutation in Fifteen Probands With Mild to Moderate Sensorineural Hearing Impairment: Further Confirmation of Pathogenicity and Haplotype Analysis in Asian Populations
American Journal of Medical Genetics, Part A
Genetics
Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals With Cornelia De Lange Syndrome and Review of the Literature
American Journal of Medical Genetics, Part A
Genetics
Germline Mosaicism in Cornelia De Lange Syndrome
American Journal of Medical Genetics, Part A
Genetics
Genomic Alterations in Biliary Atresia Suggest Region of Potential Disease Susceptibility in 2q37.3
American Journal of Medical Genetics, Part A
Genetics
