Concepedia

Smrithi Salian

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Statistics

Publications

6

Citations

121

H-Index

6

Active since

2018

Affiliations

Université de Montréal(Current)

Centre Hospitalier Universitaire Sainte-Justine

McGill University Health Centre

UNSW Sydney

University College London

Smrithi Salian is an author at Université de Montréal specializing in genetic syndromes, human genetics, and medical genetics.

Publications per year

2018–2022

6

Publications

6

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 · 38 citations · Full text

, , +11

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 · 33 citations · Full text

, , +6

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 · 16 citations

, , +17

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

, , +15

<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

, , +17

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