Leah Fleming

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber et al. · Nature Communications · 2014 · 78 citations · Full text

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Leah Fleming, Daniel Doherty, Melissa A. Parisi et al. · Clinical Journal of the American Society of Nephrology · 2017 · 74 citations · Full text

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

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix et al. · Genetics in Medicine · 2018 · 69 citations · Full text

Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy

Leah Fleming, Monica E. Lemmon, Natalie Beck et al. · American Journal of Medical Genetics Part A · 2015 · 47 citations · Full text