Katherine A. Bosanko

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

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 75 citations

Medicine, Speech-language Pathology, Articulation Disorders +16

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne, Shuxiang Goh, Jade England et al. · Genetics in Medicine · 2020 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Nikita R. Dsouza et al. · Journal of Medical Genetics · 2021 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant

Yuri A. Zárate, Katherine A. Bosanko, Chaowapong Jarasvaraparn et al. · Case Reports in Pediatrics · 2014 · 23 citations · Full text

Medicine, Pediatrics, Radiology +16