Chris Balak

Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects

Ashish Yeri, Amanda Courtright, Rebecca Reiman et al. · Scientific Reports · 2017 · 156 citations · Full text

Life Sciences, Molecular Biology, Gene Expression +13

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

Anna Fassio, Alessandro Esposito, Mitsuhiro Kato et al. · Brain · 2018 · 87 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Chris Balak, Marianne Bénard, Élise Schaefer et al. · The American Journal of Human Genetics · 2019 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck et al. · Nature Communications · 2019 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Camilo Toro, Roderick Hori, May Christine V. Malicdan et al. · Human Molecular Genetics · 2017 · 50 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17