Leah Rebecca Fleming, MD

Unless otherwise indicated, this information has been self-reported and has not been verified by the Board of Medicine.

University Of Utah School Of Medicine - Salt Lake City UT
Rank: Adjunct Professor
Years: 2017-2022

None Reported

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Nature Communications
Volume: 22
Date: 07 2014

Prospective Evaluation of Kidney Disease in Joubert Syndrome
Clinical J American Society of Nephrology
Volume: 12
Date: 12 2017

Natural history and genotype-phenotype correlations in 72 individuals with SATB2 associated syndrome
American J Medical Genetics Part A
Date: 01 2018

TANGO2 Expanding the clinical phenotype and spectrum of pathogenic variants
Genetic Medicine
Volume: 3
Date: 03 2019

Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features
Human Mutation
Volume: 7
Date: 01 2020

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
Genetic Medicine
Volume: 7
Date: 07 2021

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Brain
Volume: 3
Date: 06 2022