Smrithi Salian

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

Jonathan Humbert, Smrithi Salian, Periklis Makrythanasis et al. · The American Journal of Human Genetics · 2020 · 35 citations · Full text

Cerebellar Atrophy, Allelic Variant, Developmental Biology +10

A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Éliane Beauregard‐Lacroix, Smrithi Salian, Hyunyun Kim et al. · European Journal of Human Genetics · 2019 · 31 citations · Full text

Neonatal Progeroid Syndrome, Autoimmune Disease, Genetic Disorder +9

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in <i>FLNB</i>

Smrithi Salian, Anju Shukla, Hitesh Shah et al. · Clinical Genetics · 2018 · 15 citations

Epileptic encephalopathy caused by <scp>ARV1</scp> deficiency: Refinement of the genotype–phenotype spectrum and functional impact on <scp>GPI</scp> ‐anchored proteins

Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen et al. · Clinical Genetics · 2021 · 13 citations · Full text

<i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Kimberley M. Reid, Robert Spaull, Smrithi Salian et al. · Movement Disorders · 2022 · 11 citations · Full text