Elisabeth E. Mlynarski

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Donna M. McDonald‐McGinn, Somayyeh Fahiminiya, Timothée Revil et al. · Journal of Medical Genetics · 2012 · 115 citations · Full text

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Elisabeth E. Mlynarski, Molly B. Sheridan, Michael Xie et al. · The American Journal of Human Genetics · 2015 · 72 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +11

INFERNO: inferring the molecular mechanisms of noncoding genetic variants

Alexandre Amlie‐Wolf, Mitchell Tang, Elisabeth E. Mlynarski et al. · Nucleic Acids Research · 2018 · 61 citations · Full text

Causal Variants, Genetics, Molecular Genetics +21

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Elisabeth E. Mlynarski, Michael Xie, Deanne Taylor et al. · Human Genetics · 2016 · 57 citations · Full text

Deletion Syndrome, Congenital Heart Defects, Genetic Disorder +8

TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy

Carolina Alquézar, Kathleen M. Schoch, Ethan G. Geier et al. · Science Advances · 2021 · 48 citations · Full text