Publications
- 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
- 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.
- 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
- 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
- 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
- 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)
- Verma IC, Paliwal P, Singh K. Genetic Testing in Pediatric Ophthalmology. Indian J
Pediatr. 2018 Mar;85(3):228-236
- Bijarnia-Mahay S, Singh K, Verma IC. Planning a healthy baby: The 21 st century way!
J Clin Research. 2021;5(3).
- BOOK Chapter: Carrier screening and Genetic risk prediction in book : Genetic
Counseling Clinical and laboratory approach; Jaypee Publishers Bijarnia-Mahay S,
Singh K
- BOOK Chapter: IEM in paediatric emergency Kapoor S, Singh K, M Ranjana -
under publication
Awards
- 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)
- 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
- 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