Pranesh Chakraborty

5PUBLICATIONS
23CO-AUTHORS
Analytical spectrometryCell and nuclear divisionMolecular evolutionMedical infection agents (incl. prions)Infant and child health
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Publications (5)

|Dec 15, 2025
Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement.

Sarah E Lawrence, Janet Marcadier, Sheila Auger

|Mar 13, 2024
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.

Aren E Marshall, Lauren Brady, Ed Yeh

|Sep 01, 2023
The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.

Lauren Strasser, Asif Doja, Jorge Davila

|Aug 18, 2021
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.

Hugh J McMillan, Jorge Davila, Matt Osmond

|Jul 02, 2021
Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening.

Sara D Khangura, Beth K Potter, Christine Davies

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Frequent Collaborators

1 joint publications

Julian Little

1 joint publications

Hugh J McMillan

1 joint publications

Kym M Boycott

1 joint publications

David A Dyment