Publications by authors named "Ratna Puri"

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Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.
Meena Bajaj Lall, Anju Joshi, Shruti Agarwal, Pushpa Saviour, Preeti Paliwal, Ratna Dua Puri

Indian J Pediatr· January 2026

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Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations.
Sakshi Yadav, R C Madhumita, Neerja Gupta, Sandeepa Chauhan, Shweta Kusmakar, Ratna D Puri

Indian J Pediatr· October 2025

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Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Neha Garg, Pragna Lakshmi, Suzena M Singh, Samarth Kulshreshta, Prajnya Ranganath, Ratna Dua Puri

Clin Genet· June 2025

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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.
Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L Cellai, Ratna Dua Puri

Front Public Health· May 2025

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Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Anthony C T Cheung, Erminia Di Pietro, Catherine Argyriou, Eric Bareke, Yasmin D'Souza, Ratna Dua Puri

Mol Genet Metab· May 2025

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Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.
Shauna Quinn, Nicola Walsh, Ioana Streata, Athina Ververi, Samarth Kulshrestha, Ratna Dua Puri

Eur J Med Genet· February 2025

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Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force.
Faye H Chen, Adam L Hartman, Mary Catherine V Letinturier, Victoria Antoniadou, Gareth Baynam, Ratna Dua Puri

Eur J Med Genet· December 2024

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Two-Compound Heterozygous Deletions Affecting in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation.
Swasti Pal, Samarth Kulshrestha, Neha Garg, Deepti Gupta, Nandita Dimri Gupta, Ratna Dua Puri

Mol Syndromol· December 2024

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Ratna Dua Puri

Nat Genet· November 2024

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The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.
Sudha Kohli, Renu Saxena, Ratna Dua Puri, Sunita Bijarnia Mahay, Swasti Pal

Eur J Hum Genet· October 2024

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Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.
Selinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, Michelle C do Rosario, Purvi Majethia, Ratna Dua Puri

Clin Dysmorphol· October 2024

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Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, Dhiren Gupta, Arun Soni, Ratna Dua Puri

Eur J Hum Genet· September 2024

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Rare but Perils of Unaware - Fibrodysplasia Ossificans Progressiva.
Ratna Dua Puri

Indian J Pediatr· August 2024

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Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee.
David R Adams, Clara D M van Karnebeek, Sergi Beltran Agulló, Víctor Faùndes, Saumya Shekhar Jamuar, Ratna Dua Puri

Eur J Med Genet· August 2024

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Next-Generation Sequencing in Unexplained Intellectual Disability.
Sapna Sandal, Ishwar Chander Verma, Sunita Bijarnia Mahay, Sudhisha Dubey, R K Sabharwal, Ratna Dua Puri

Indian J Pediatr· July 2024

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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K Gowda, Ratna Puri

Hum Genomics· May 2024

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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L Cellai, Ratna Dua Puri

Front Public Health· November 2023

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A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome.
Neerja Gupta, Soumalya Chakraborty, Madhumita Roy Chowdhury, Ratna Dua Puri, Manisha Jana

Eur J Med Genet· September 2023

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Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L Cellai, Ratna Dua Puri

Front Public Health· March 2023

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Antenatal Phenotype of Desbuquois Dysplasia.
Ishpreet K Biji, Sunita Bijarnia Mahay, Renu Saxena, Ishwar Verma, Benu Kumar, Ratna Dua Puri

Indian J Pediatr· January 2023

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Hypomelanosis of Ito.
Veronika Arora, Rinky Tandon, Ratna Dua Puri, Meena Lall, Imran Noorani

Indian J Pediatr· November 2022

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Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Ishpreet K Biji, Siddharth Yadav, Samarth Kulshrestha, Renu Saxena, Sudha Kohli, Ratna Dua Puri

Eur J Med Genet· October 2022

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Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.
Kanika Singh, Ratna Dua Puri, Sunita Bijarnia-Mahay, Meena Lall, Jyotsna Verma

Indian Pediatr· June 2022

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Indian Undiagnosed Diseases Program (I-UDP) - The Unmet Need.
Ratna Dua Puri, Ashwin Dalal, Amita Moirangthem

Indian Pediatr· March 2022

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Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Neha Agrawal, Gaurav Verma, Deepti Saxena, Madhulika Kabra, Neerja Gupta, Ratna Dua Puri

Eur J Med Genet· March 2022

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