SR
Smrithi Salian
Also known as: Smrithi Raghuram, Smrithi Salian
CHU Sainte-Justine Research Center, Manipal University Kasturba Medical College Manipal, Manipal University, School of Life Science
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Connective tissue disorders research
0000-0003-4163-4889
Employment
- 2019 - Present
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Manipal University Kasturba Medical College Manipal Senior Research Fellow2017 - 2018
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Manipal University Kasturba Medical College Manipal Junior Research Fellow2013 - 2014
Education
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Manipal University Kasturba Medical College Manipal PhD in Medical Genetics2014 - 2018
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Manipal University, School of Life Science MSc Medical Biotechnology2011 - 2013
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Manipal University, School of Life Science BSc Biotechnology2008 - 2011
Projects & Funding
Projects & funding information is unavailable.
Publications (17)
- MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia Save
- Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins Save
- PIGF deficiency causes a phenotype overlapping with DOORS syndrome. Save
- De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. Save
- A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Save
- Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. Save
- Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. Save
- Pycnodysostosis: Novel variants in CTSK and occurrence of giant cell tumor. Save
- A case of a severe form of brachydactyly type A1 in a child with a c.298G>A mutation in IHH gene. Save
- Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1 Save
- Additional three patients with Smith-McCort Dysplasia due to novel RAB33B mutations. Save
- Evaluation of multiplex ligation dependent probe amplification as a tool for diagnosis and carrier detection in families with a dystrophinopathy. Save
- Focal dermal hypoplasia with a de novo mutation p.E300* of PORCN gene in a male infant. Save
- Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis. Save
- Familial 7q11.23 duplication with variable phenotype. Save
- Bioprospecting of microbes producing commercially useful products. Save
- Design of cultural conditions for enhancement of alkaline protease production. Save