Mayra Martinez Ojeda

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

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

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

A novel mutation in the POLE2 gene causing combined immunodeficiency.

J. Casanova, L. Notarangelo, F. Frugoni, 2016, The Journal of allergy and clinical immunology.

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

M. Wojcik, Yarden S. Fraiman, Maya C. del Rosario, 2022, Pediatric Research.

Rare Diseases, Common Barriers: Disparities in Pediatric Clinical Genetics Outcomes

M. Wojcik, Yarden S. Fraiman, Maya C. del Rosario, 2022, Pediatric Research.

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy

J. Stoler, A. Rope, P. Bayrak-Toydemir, 2015, American journal of medical genetics. Part A.

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

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

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

Michael F. Wangler, David T. Miller, B. Korf, 2019 .