Publications

  1. Singh K, Puri RD, Bijarnia-Mahay S, et al. Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India. Indian Pediatr. 2022;59(6):463-466
  2. Singh K, Bijarnia-Mahay S, Ramprasad VL, Puri RD, Nair S, Sharda S, Saxena R, Kohli S, Kulshreshtha S, Ganguli I, Gujral K, Verma IC. NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. BMC Med Genet. 2020;21:216.
  3. Singh K, Saxena R, Parashar R, Bijarnia-Mahay S. Clinical vignette: Hystrix like ichthyosis and deafness syndrome in a toddler. Genetic clinics. 2021; Jan-Mar
  4. Singh K, Puri RD, Bhai P, Arya AD, Chawla G, Saxena R, Verma IC. Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):799-807
  5. Singh K, Aggarwal A, Faridi MMA, Sharma S. IV Levetiracetam versus IV Phenytoin in Childhood Seizures: A Randomized Controlled Trial. J Pediatr Neurosci. 2018 Apr-Jun;13(2):158-164
  6. Arora V, Bijarnia-Mahay S, Kulshreshtra S, Singh K, Puri RD, Verma IC. Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation. Autops Case Rep. 2019 Sep 30;9(4)
  7. Verma IC, Paliwal P, Singh K. Genetic Testing in Pediatric Ophthalmology. Indian J Pediatr. 2018 Mar;85(3):228-236
  8. Bijarnia-Mahay S, Singh K, Verma IC. Planning a healthy baby: The 21 st century way! J Clin Research. 2021;5(3).
  9. BOOK Chapter: Carrier screening and Genetic risk prediction in book : Genetic Counseling Clinical and laboratory approach; Jaypee Publishers Bijarnia-Mahay S, Singh K
  10. BOOK Chapter: IEM in paediatric emergency Kapoor S, Singh K, M Ranjana - under publication

Awards

  1. Dr. V. Balagopal Raju Endowment Award – Gold Medal – for Research paper “Efficacy and Safety of IV Levetiracetam versus IV Phenytoin – A randomized controlled trial in children” (52nd National Conference of Indian Academy of Pediatrics, Pedicon 2015)
  2. Best thesis award GRIPMER (Ganga Ram Institute of Postgraduate Medical education and Research) for A study to estimate the carrier frequency of common genetic disorders in North India
  3. Best oral presentation for Spectrum of Genetic etiology of Short stature at 4th Annual Conference of SIAMG- disorder of prenatal and postnatal growth, Trivandrum, Kerala