A. Correa

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

Brandon K. Fornwalt, K. Lunetta, S. Redline, 2021, medRxiv.

Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

M. Kabra, N. Gupta, P. Mishra, 2020, The Indian Journal of Pediatrics.

First case report of Penttinen syndrome from India

M. Kabra, N. Gupta, M. Jana, 2021, American journal of medical genetics. Part A.

Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

M. Kabra, N. Gupta, M. Jana, 2019, Journal of Pediatric Genetics.

Ethylmalonic encephalopathy masquerading as malabsorption syndrome - A case report

S. Eichler, M. Kabra, A. Rolfs, 2017 .

Hydrops fetalis in PKD1L1‐related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum

M. Kabra, N. Gupta, Mounika Endrakanti, 2021, Annals of human genetics.

The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease

M. Kabra, P. Mishra, S. Sapra, 2023, American Journal of Medical Genetics. Part A.