Lauren Jeffries

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Annalisa G. Sega, Emily K. Mis, Kristin Lindstrom et al. · Journal of Medical Genetics · 2018 · 44 citations

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

Karen Runge, Rémi Mathieu, Stéphane Bugeon et al. · Molecular Psychiatry · 2021 · 44 citations · Full text

A novel <i>SAMD9</i> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

Lauren Jeffries, Hirohito Shima, Weizhen Ji et al. · American Journal of Medical Genetics Part A · 2017 · 34 citations

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Maicon Landim-Vieira, Jamie R. Johnston, Weizhen Ji et al. · Frontiers in Physiology · 2020 · 31 citations · Full text

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability

Engin Deniz, Mehreen Pasha, María Elena Guerra et al. · Developmental Biology · 2023 · 27 citations · Full text