John Pappas
NYU Langone Health(US)Cancer Genetics (United States)(US)New York University(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, RNA modifications and cancer
Most-Cited Works
- → Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848(2017)205 cited
- → UPD detection using homozygosity profiling with a SNP genotyping microarray(2011)201 cited
- → Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance(2014)148 cited
- → Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1(2019)131 cited
- → A molecular and clinical study of Larsen syndrome caused by mutations in FLNB(2006)127 cited
- → De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy(2015)122 cited