Back to Authors

Mendelsohn, Nancy J.

A5031505605 | I4210132437

Mayo Clinic

Children's Minnesota

Citations 2

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

Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315

10.1002/humu.23929 | PMID 31595648

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome

Congenital Heart Disease | July 25, 2016 | Volume: 11 | Issue: 5 | Pages: 452-461

10.1111/chd.12400 | PMID 27452334