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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
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 correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
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 correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.Molecular Psychiatry|February 5, 2020
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionIsabelle Cleynen, Worrawat Engchuan, Matthew S Hestand, et al.Pageof 56