Angie Lichty

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

Clinical spectrum of <i>SIX3</i>-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler et al. · Journal of Medical Genetics · 2009 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Cohesin complex-associated holoprosencephaly

Paul Kruszka, Seth Berger, Valentina Casà et al. · Brain · 2019 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips et al. · Genetics in Medicine · 2022 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Unique Cerebrovascular Anomalies in Noonan Syndrome With <i>RAF1</i> Mutation

Yuri A. Zárate, Angie Lichty, Kristen J. Champion et al. · Journal of Child Neurology · 2013 · 28 citations

Medicine, Neurology, Pediatrics +17