Ratna Dua Puri

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

P. Bauer, A. Bertoli-Avella, A. Rolfs, 2020, Journal of the American Society of Nephrology : JASN.

COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum

Suzena Masih, A. Moirangthem, S. Phadke, 2022, American journal of medical genetics. Part A.

The fatal fetal tumor: a geneticist’s perspective

Seema R. Gupta, I. Verma, Veronica Arora, 2019, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience

S. Agarwal, P. Paliwal, S. Bijarnia-Mahay, 2021, The Journal of Obstetrics and Gynecology of India.

Down syndrome in India--diagnosis, screening, and prenatal diagnosis.

I. Verma, M. Lall, Ratna Dua Puri, 2012, Clinics in laboratory medicine.

Next Generation Sequencing in the Clinic

Ratna Dua Puri, Ratna Dua Puri, 2016, The Indian Journal of Pediatrics.

Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort

S. Sandal, Renu Saxena, M. Lall, 2022, American journal of medical genetics. Part A.

Fetal valproate syndrome as a phenocopy of Kleefstra syndrome

S. Agarwal, Veronica Arora, M. Lall, 2018, Birth defects research.

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred

R. Saxena, D. Gupta, I. Verma, 2020, Molecular Syndromology.

Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians

R. Saxena, R. Deb, I. Verma, 2013, Pharmacological reports : PR.

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

K. Girisha, A. Shukla, H. Shah, 2021, Clinical genetics.