Lorida Llaci

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

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Irma Järvelä, Tuomo Määttä, Anushree Acharya et al. · Human Genetics · 2021 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

Isabelle Schrauwen, Elina Kari, Jacob Mattox et al. · Human Genetics · 2018 · 48 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Loss of Quaking RNA binding protein disrupts the expression of genes associated with astrocyte maturation in mouse brain

Kristina Sakers, Yating Liu, Lorida Llaci et al. · Nature Communications · 2021 · 41 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

Ignazio S. Piras, Christiane Bleul, Isabelle Schrauwen et al. · Acta Neuropathologica Communications · 2020 · 39 citations · Full text

Life Sciences, Neurology, Neuroscience +17