Julie Kaylor

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

Anne Slavotinek, Julie Kaylor, Heather Pierce et al. · The American Journal of Human Genetics · 2014 · 96 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

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 · 73 citations

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Yanyan Peng, Deepali N. Shinde, C. Alexander Valencia et al. · Human Molecular Genetics · 2017 · 52 citations · Full text

Mitochondrial Dysfunction, Iron Metabolism, Genetics +16

Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant Results

Julie Kaylor, María Alfaro, Arjun Ishwar et al. · Cytogenetic and Genome Research · 2014 · 44 citations

Cytogenetic Evaluation, Cytogenetics, Genetics +18

De novo pathogenic variants in <i>CHAMP1</i> are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Akemi Tanaka, Megan T. Cho, Kyle Retterer et al. · Molecular Case Studies · 2015 · 43 citations · Full text

Brain Development, Genetics, Immunodeficiencies +18