Author

Elizabeth Siqveland

Observed name: Siqveland, Elizabeth

Observed institutions: Children's Minnesota, University of Minnesota Children's Hospital

OpenAlex ID: A5046351565

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

2017 · Magdalena Koczkowska, Yunjia Chen, et al. · The American Journal of Human Genetics · 216

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

2015 · Kitiwan Rojnueangnit, Jing Xie, et al. · Human Mutation · 188

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 · Magdalena Koczkowska, Tom Callens, et al. · Human Mutation · 134

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

2018 · Magdalena Koczkowska, Tom Callens, et al. · Genetics in Medicine · 93

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

2013 · Douglas R. Stewart, Hilde Brems, et al. · Genetics in Medicine · 54

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

2018 · Magdalena Koczkowska, Tom Callens, et al. · Genetics in Medicine · 2

Lg-55case Report of an Optic Pathway Glioma in a Patient With Legius Syndrome

2016 · Mary Skrypek, Anne Bendel, et al. · Neuro-Oncology · 2

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

2025 · Digilio, Maria C., Wimmer, Katharina, et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)

Neurofibromatosis type 1: update on a common genetic condition.

2009 · Elizabeth Siqveland, Dinel Pond · PubMed

Works count: 9

Citation count: 689

H-index: 5

I10-index: 5