I Am A Clinical Geneticist With A Doctorate And Fellowship In Medical Genetics. I Have Completed My Post-Graduation In Paediatrics Prior To Joining Genetics. My Interests Include Neurogenetics, Involving Paediatric As Well As Adult Patients, Fetal Malformations And New Molecular Genetic Technologies (Next Generation Sequencing, Long Read Sequencing, Etc). I Am Also Involved In The New Era Of Therapeutics In Genomics, Including Gene Therapy And RNA-Based Therapy For Neuromuscular Disorders With A Keen Interest In Upcoming Therapies Like CRISPR.
Publications
1. Pal S, Gupta A, Dhasmana R, Saini M, Khanduri R, Bhat NK. Miliary Tuberculosis In An Immunocompetent Adolescent. Indian J Child Health. 2017; 4(3):459-461. DOI: Https://Doi.Org/10.32677/IJCH.2017.V04.I03.047
2. Pal S, Kalra BP, Kalra V. A Study Of Serum-Ionized Calcium In Neonates With Unconjugated Hyperbilirubinemia On Phototherapy. Indian J Child Health. 2018; 5(4):284-288. DOI: Https://Doi.Org/10.32677/IJCH.2018.V05.I04.013
3. Pal S, Bhatia S, Bijarnia-Mahay S, Verma IC, Puri RD. Challenges In Chronic Genetic Disorders: Lessons From The COVID-19 Pandemic. Indian Pediatrics. 2021 Apr;58(4):391-2. DOI: 10.1007/S13312-021-2202-X
4. Arora V, Pal S, Kulshreshtha S, Verma IC. A Further Case Of Larsen's Syndrome: Clinical And Genotypic Challenges In Diagnosis. J Pediatr Genet 2020;00:1–7 Doi: 10.1055/S-0040-1718540
5. Sandal S, Shanker V, Pal S, Bijarnia-Mahay S. Weill–Marchesani Syndrome: A Rare Cause Of Ectopia Lentis And Short Stature. Indian Pediatr Case Rep 2021;1:117-9 DOI: 10.4103/Ipcares.Ipcares_102_21
6. Cif, L., Demailly, D., Lin, J. P., Barwick, K. E., Sa, M., Abela, L. Pal S ... & Kurian, M. A. (2020). KMT2B-Related Disorders: Expansion Of The Phenotypic Spectrum And Long-Term Efficacy Of Deep Brain Stimulation. Brain, 143(11), 3242-3261. DOI: 10.1093/Brain/Awaa304
7. Bijarnia-Mahay S, Puri RD, Kotecha U, Dash P, Pal S, Lall M Et Al. Outcome Of Prenatally-Detected Fetal Ventriculomegaly. J. Fetal Med. (March 2015) 2:39–44 DOI: Https://Doi.Org/10.1007/S40556-015-0044-0
8. Takkar A, Arora V, Pal S, Saxena R. Carrier Screening In The Current Era: A Report Depicting Its Utility And Challenges. Genetic Clinics 2022 | April - June | Vol 15 | Issue 2
9. Takkar A, Arora V, Pal S, Puri RD. Genetic Counselling And Its Challenges In Leber Hereditary Optic Neuropathy: Two Illustrative Clinical Scenarios From India. Genetic Clinics 2023 | January- March | Vol 16 | Issue 1
