Pranesh Chakraborty

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 6

Top Topics

Aortic Dissection

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Aren Elizabeth Marshall, Lauren Brady, Ed Yeh, Alan J Mears, Melanie Lacaria, Pranesh Chakraborty, Mark A Tarnopolsky, Kristin D Kernohan
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10. American journal of medical genetics. Part A 194 (7) (2024)
Aren Elizabeth Marshall, Lauren Brady, Ed Yeh, Alan J Mears, Melanie Lacaria, Pranesh Chakraborty, Mark A Tarnopolsky, Kristin D Kernohan
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10. American journal of medical genetics. Part A 194 (7) (2024)
Aren Elizabeth Marshall, Lauren Brady, Ed Yeh, Alan J Mears, Melanie Lacaria, Pranesh Chakraborty, Mark A Tarnopolsky, Kristin D Kernohan
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10. American journal of medical genetics. Part A (2024)
Lauren Strasser, Asif Doja, Jorge Davila, Pranesh Chakraborty, Danielle K Bourque
The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability. American journal of medical genetics. Part A (2023)
Hugh J Mcmillan, Jorge Davila, Matt Osmond, Pranesh Chakraborty, null null, Kym M Boycott, David A Dyment, Kristin D Kernohan
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature. American journal of medical genetics. Part A 185 (11) (2021)
Sara D Khangura, Beth K Potter, Christine Davies, Robin Ducharme, A Brianne Bota, Steven Hawken, Kumanan Wilson, Maria D Karaceper, Robert J Klaassen, Julian Little, Ewurabena Simpson, Pranesh Chakraborty
Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening. BMC pediatrics 21 (1) (2021)