Mitch Cunningham

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

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Adam C. Gunning, Klaudia Strucinska, Mikel Muñoz Oreja et al. · The American Journal of Human Genetics · 2020 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors

Nadine Channaoui, Ambreen Khan, Chana Wiesman et al. · Journal of Genetic Counseling · 2020 · 15 citations · Full text

Life Sciences, Counseling, Genetics +8