Srinitya Gannavarapu

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Maria D. Karaceper, P. Chakraborty, O. Al-Dirbashi, 2015, Molecular genetics and metabolism.

Psychosocial impact on mothers receiving expanded newborn screening results

P. Chakraborty, B. Potter, C. A. Rupar, 2018, European Journal of Human Genetics.

Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism

B. Potter, C. Prasad, A. Prasad, 2020, Molecular genetics and metabolism reports.

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.

S. Leal, M. Zeviani, P. Striano, 2021, American journal of human genetics.

AJHG The American Journal of Human Genetics Biallelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

S. Leal, M. Zeviani, P. Striano, 2021 .