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 · 116 citations · Full text

Medicine, Radiology, Surgery +17

Whole-genome sequencing of 490,640 UK Biobank participants

Keren Carss, Bjarni V. Halldórsson, Liping Hou et al. · Nature · 2025 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 73 citations · Full text

Medicine, Genetics, Molecular Genetics +17

INFERNO: inferring the molecular mechanisms of noncoding genetic variants

Alexandre Amlie‐Wolf, Mitchell Tang, Elisabeth E. Mlynarski et al. · Nucleic Acids Research · 2018 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Genetics +16