Jennifer Keller‐Ramey

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

Christiane K. Bauer, Pauline E. Schneeberger, Fanny Kortüm et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Signal Transduction, Hyperpolarization (Biology), Neurophysiology +9

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Caroline Dias, Jaya Punetha, Céline Zheng et al. · The American Journal of Human Genetics · 2019 · 57 citations · Full text

Brain Development, Exome Sequencing, Synaptic Transmission +17

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

Genetic variants in the <i>KDM6B</i> gene are associated with neurodevelopmental delays and dysmorphic features

Elliot Stolerman, E. Nicolás Francisco, Jennifer L. Stallworth et al. · American Journal of Medical Genetics Part A · 2019 · 52 citations

Histone Modifications, Histone Lysine Methylation, Brain Development +20

Uniparental disomy in a population of 32,067 clinical exome trios

Julie Scuffins, Jennifer Keller‐Ramey, Lindsay Dyer et al. · Genetics in Medicine · 2021 · 52 citations · Full text