Christopher N. Vlangos
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Renal Diseases and Glomerulopathies, Genomics and Rare Diseases, Renal and related cancers, Genetic factors in colorectal cancer
Most-Cited Works
- → Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics(2016)1,687 cited
- → Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible(2006)557 cited
- → ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)(2021)550 cited
- → Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)(2007)435 cited
- → COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness(2011)394 cited
- → Mutations in RAI1 associated with Smith–Magenis syndrome(2003)357 cited
- → Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)(2021)250 cited
- → A Novel TRPC6 Mutation That Causes Childhood FSGS(2009)170 cited
- → A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations(2009)162 cited
- → Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum(2006)154 cited