Allison L. Goetsch

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

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Ghayda Mirzaa, Valerio Conti, Andrew E. Timms et al. · The Lancet Neurology · 2015 · 78 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy

Elizabeth Dabrowski, Emilie K. Johnson, Vrunda Patel et al. · Journal of Pediatric and Adolescent Gynecology · 2019 · 44 citations · Full text

Life Sciences, Endocrinology, Genetics +16

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Aishwarya Arjunan, Holly Bellerose, Raúl Torres et al. · Prenatal Diagnosis · 2020 · 39 citations · Full text

Life Sciences, Genetics, Obstetrics +11

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Heather B. Radtke, Amanda L. Bergner, Allison L. Goetsch et al. · Journal of Genetic Counseling · 2020 · 28 citations · Full text

Life Sciences, Counseling, Genetics +8