Ratna Dua Puri

3.0k citations

133 papers · 1.3k indexed · h-index 17

Molecular Biology
Genetics top 10%
Physiology top 10%
Surgery
Pediatrics, Perinatology and Child Health top 10%

Co-authors: Ishwar C. Verma Renu Saxena Leilei Chen Sham S. Kakar Sunita Bijarnia‐Mahay Shubha R. Phadke Albert Tousson Hisham Alkuraya
Topics: Prenatal Screening and Diagnostics (23 papers)Genomic variations and chromosomal abnormalities (19 papers)Lysosomal Storage Disorders Research (18 papers)
Cited by: Clinical Biochemistry Genetics Pediatrics, Perinatology and Child Health
Journals: SHILAP Revista de lepidopterologíaJournal of the American Society of Nephrology The American Journal of Human Genetics
Partner nations: India United States Pakistan

In The Last Decade

Ratna Dua Puri

121 papers receiving 1.2k citations

Peers

Countries citing papers authored by Ratna Dua Puri

Since Specialization

Citations

This map shows the geographic impact of Ratna Dua Puri's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Ratna Dua Puri with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Ratna Dua Puri more than expected).

Fields of papers citing papers by Ratna Dua Puri

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Ratna Dua Puri. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Ratna Dua Puri. The network helps show where Ratna Dua Puri may publish in the future.

Co-authorship network of co-authors of Ratna Dua Puri

This figure shows the co-authorship network connecting the top 25 collaborators of Ratna Dua Puri. A scholar is included among the top collaborators of Ratna Dua Puri based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Ratna Dua Puri. Ratna Dua Puri is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders 2025 ·PubMed ·Anthony Cheung,Erminia Di Pietro,(unknown),Eric Bareke,(unknown),Ratna Dua Puri,(unknown),Rebecca Ganetzky,Amy B. Goldstein,Adeline Vanderver,Shruthi Mohan,Jacek Majewski,(unknown),Nancy Braverman	0
2	Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force 2024 ·European Journal of Medical Genetics ·(unknown),Adam L. Hartman,(unknown),(unknown),Gareth Baynam,Lara Bloom,Marco Crimi,(unknown),Giuseppe Di Fede,Sofia Douzgou,Anneliene Hechtelt Jonker,(unknown),Friederike Mueller,James J. O’Brien,Ratna Dua Puri,(unknown),Meow‐Keong Thong,Biruté Tumiene,Melissa A. Parisi	2
3	Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder 2024 ·European Journal of Human Genetics ·(unknown),(unknown),(unknown),Dhiren Gupta,Arun Soni,Renu Saxena,Sunita Bijarnia‐Mahay,Ishwar C. Verma,Ratna Dua Puri	1
4	A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome 2023 ·European Journal of Medical Genetics ·Neerja Gupta,(unknown),(unknown),Ratna Dua Puri,Manisha Jana,Indu Kumari,(unknown),Madhulika Kabra	1
5	Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II 2022 ·European Journal of Medical Genetics ·(unknown),(unknown),Deepti Saxena,Madhulika Kabra,Neerja Gupta,Kausik Mandal,(unknown),Jayesh Sheth,Ratna Dua Puri,Sunita Bijarnia‐Mahay,Seema Kapoor,Sumita Danda,(unknown),Chaitanya Datar,Prajnya Ranganath,Anju Shukla,Ashwin Dalal,Priyanka Srivastava,(unknown),Shubha R. Phadke	3
6	COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum 2022 ·American Journal of Medical Genetics Part A ·(unknown),(unknown),Kausik Mandal,Ashok Khurana,Dan Diego‐Álvarez,(unknown),Renu Saxena,Shubha R. Phadke,(unknown),(unknown),(unknown),Ishwar C. Verma,Ratna Dua Puri	5
7	Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis 2020 ·Journal of the American Society of Nephrology ·(unknown),Suliman Khan,Ayman W. El‐Hattab,Ratna Dua Puri,María Eugenia Rocha,(unknown),Omid Paknia,Christian Beetz,Arndt Rolfs,Aida M. Bertoli‐Avella,Peter Bauer,Ishwar C. Verma	12
8	Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss 2020 ·Journal of Pediatric Genetics ·(unknown),(unknown),Renu Saxena,Ratna Dua Puri,Ishwar C. Verma	2
9	Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population 2020 ·Indian Journal of Gastroenterology ·(unknown),(unknown),Ratna Dua Puri,Sunita Bijarnia‐Mahay,Renu Saxena,Ishwar C. Verma	2
10	Unique skeletal manifestations in patients with Primrose syndrome 2020 ·European Journal of Medical Genetics ·(unknown),Eyby Leon,Jullianne Diaz,Hanne Hove,Daniel R. Carvalho,Kenji Kurosawa,(unknown),Gen Nishimura,Renu Saxena,Carlos R. Ferreira,Ratna Dua Puri,Ishwar C. Verma	6
11	Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization 2018 ·The Journal of Maternal-Fetal & Neonatal Medicine ·(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),Ratna Dua Puri,I. C. Verma,(unknown)	1
12	Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases 2018 ·Journal of Pediatric Endocrinology and Metabolism ·Kanika Singh,Ratna Dua Puri,(unknown),(unknown),(unknown),Renu Saxena,Ishwar C. Verma	10
13	Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation 2017 ·(unknown),Ratna Dua Puri,Sunita Bijarnia‐Mahay,(unknown),Vedam L. Ramprasad,Renu Saxena,Ishwar C. Verma	6
14	KCNQ1 mutations associated with Jervell and Lange–Nielsen syndrome and autosomal recessive Romano–Ward syndrome in India—expanding the spectrum of long QT syndrome type 1 2016 ·American Journal of Medical Genetics Part A ·(unknown),Ratna Dua Puri,Narayanan Namboodiri,Mohan Nair,Deepak Sharma,(unknown),Renu Saxena,(unknown),Neeraj Aggarwal,Amit Vora,Jatinder Kumar,Tarandeep Singh,I. C. Verma	10
15	Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes 2016 ·Genetic Testing and Molecular Biomarkers ·(unknown),Sunita Bijarnia‐Mahay,Sudha Kohli,Renu Saxena,Ratna Dua Puri,Yosuke Shigematsu,Seiji Yamaguchi,Osamu Sakamoto,Neerja Gupta,Madhulika Kabra,Seema Thakur,(unknown),Ishwar C. Verma	10
16	Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients 2015 ·European Journal of Medical Genetics ·(unknown),Sunita Bijarnia‐Mahay,Renu Saxena,Sudha Kohli,Ratna Dua Puri,Jyotsna Verma,Elizabeth R. Thomas,Yosuke Shigematsu,Seiji Yamaguchi,(unknown),Ishwar C. Verma	24
17	Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene 2014 ·SHILAP Revista de lepidopterología ·(unknown),(unknown),Deepak Sharma,Jyotsna Verma,Ratna Dua Puri,Ishwar C. Verma	1
18	Mutation Analysis of the CFTR Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations 2012 ·Genetic Testing and Molecular Biomarkers ·(unknown),Renu Saxena,Ratna Dua Puri,Sunita Bijarnia,Sudha Kohli,Ishwar C. Verma	10
19	Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent 2012 ·The Indian Journal of Pediatrics ·Sunita Bijarnia,Sudha Kohli,Ratna Dua Puri,(unknown),Renu Saxena,Anil Jalan,Erik A. Sistermans,Saqib Mahmood,Ishwar C. Verma	5
20	Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia 2011 ·The American Journal of Human Genetics ·Mohammed A. Aldahmesh,Jawahir Y. Mohamed,Hisham Alkuraya,Ishwar C. Verma,Ratna Dua Puri,Ayodele Alaiya,William B. Rizzo,Fowzan S. Alkuraya	134

About Ratna Dua Puri

Ratna Dua Puri is a scholar working on Clinical Biochemistry, Genetics and Pediatrics, Perinatology and Child Health, having authored 133 papers that have together received 1.3k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (23 papers), Genomic variations and chromosomal abnormalities (19 papers) and Lysosomal Storage Disorders Research (18 papers). The work is most often cited by research in Clinical Biochemistry (135 citations), Genetics (289 citations) and Pediatrics, Perinatology and Child Health (173 citations). Ratna Dua Puri has collaborated with scholars based in India, United States and Pakistan. Frequent co-authors include Ishwar C. Verma, Renu Saxena, Leilei Chen, Sham S. Kakar, Sunita Bijarnia‐Mahay, Ishwar C. Verma, Shubha R. Phadke, Albert Tousson, Hisham Alkuraya and Mohammed A. Aldahmesh. Their work appears in journals such as SHILAP Revista de lepidopterología, Journal of the American Society of Nephrology and The American Journal of Human Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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