Ramakrishnan Rajagopalan

ScholarGPS® ID: 39320027758367

Affiliation
Children's Hospital of Philadelphia
Affiliation History

Field
Medicine
Discipline
Pathology
Top Specialties
Mutation | Exome Sequencing | Hearing Loss | Human Mutation
Metrics Summary
Publication Count
33
Predicted Citations
904
Predicted h-index
20
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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Kagami Ogata syndrome: a small deletion refines critical region for imprinting (journal article)
Kilich, Gonench | Hassey, Kelly | Behrens, Edward M. | Falk, Marni | Vanderver, Adeline | Rader, Daniel J. | Cahill, Patrick J. | Raper, Anna | Zhang, Zhe | Westerfer, Dawn | ... | Sullivan, Kathleen E.
npj Genomic Medicine, volume 9, issue 1 (2024).
10.1038/s41525-023-00389-2
Cite | Source
Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing (journal article)
Luo, Minjie | Conlin, Laura K | Rajagopalan, Ramakrishnan
Clinical Chemistry, volume 69, issue 6, pages 545-547 (2023).
10.1093/clinchem/hvad044
Cite | Source
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders (journal article)
Conlin, Laura K. | Aref‐Eshghi, Erfan | McEldrew, Deborah A. | Luo, Minjie | Rajagopalan, Ramakrishnan
Human Mutation, volume 43, issue 11, pages 1531-1544 (2022).
10.1002/humu.24465
Cited by (16) | Cite | Source
Audiometric notch as a sign of noise induced hearing loss (NIHL) among the rice and market flour mill workers in Tamil Nadu, South India (journal article)
Narasimhan, Sharanya | Rajagopalan, Ramakrishnan | Justin Margret, Jeffrey | Visvanathan, Gnanaprakash | Jayasankaran, Chandru | Rekha, Kota | Srisailapathy, C. R. Srikumari
Hearing, Balance and Communication, volume 20, issue 1, pages 21-31 (2022).
10.1080/21695717.2021.1989249
Cited by (1) | Cite | Source
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results (journal article)
Rajagopalan, Ramakrishnan | Gilbert, Melissa A. | McEldrew, Deborah A. | Nassur, James A. | Loomes, Kathleen M. | Piccoli, David A. | Krantz, Ian D. | Conlin, Laura K. | Spinner, Nancy B.
Genetics in Medicine, volume 23, issue 2, pages 323-330 (2021).
10.1038/s41436-020-00989-8
Cited by (17) | Cite | Source
A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data (journal article)
Rajagopalan, Ramakrishnan | Murrell, Jill R. | Luo, Minjie | Conlin, Laura K.
Genome Medicine, volume 12, issue 1 (2020).
10.1186/s13073-020-0712-0
Cited by (34) | Cite | Source
Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia (journal article)
Zhao, Xiao | Lorent, Kristin | Escobar-Zarate, Diana | Rajagopalan, Ramakrishnan | Loomes, Kathleen M. | Gillespie, Kevin | Mesaros, Clementina | Estrada, Michelle A. | Blair, Ian A. | Winkler, Jeffrey D. | ... | Pack, Michael
Gastroenterology, volume 159, issue 3, pages 1068-1084.e2 (2020).
10.1053/j.gastro.2020.05.080
Cited by (9) | Cite | Source
Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease (journal article)
Gilbert, Melissa A. | Schultz‐Rogers, Laura | Rajagopalan, Ramakrishnan | Grochowski, Christopher M. | Wilkins, Benjamin J. | Biswas, Sawona | Conlin, Laura K. | Fiorino, Kristin N. | Dhamija, Radhika | Pack, Michael A. | ... | Spinner, Nancy B.
Human Mutation, volume 41, issue 5, pages 973-982 (2020).
10.1002/humu.23986
Cited by (17) | Cite | Source
Exome Sequencing in Individuals with Isolated Biliary Atresia (journal article)
Rajagopalan, Ramakrishnan | Tsai, Ellen A. | Grochowski, Christopher M. | Kelly, Susan M. | Loomes, Kathleen M. | Spinner, Nancy B. | Devoto, Marcella
Scientific Reports, volume 10, issue 1 (2020).
10.1038/s41598-020-59379-4
Cited by (13) | Cite | Source
Back Cover, Volume 40, Issue 12 (journal article)
Gilbert, Melissa A. | Bauer, Robert C. | Rajagopalan, Ramakrishnan | Grochowski, Christopher M. | Chao, Grace | McEldrew, Deborah | Nassur, James A. | Rand, Elizabeth B. | Krock, Bryan L. | Kamath, Binita M. | ... | Spinner, Nancy B.
Human Mutation, volume 40, issue 12 (2019).
10.1002/humu.23956
Cite | Source
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification (journal article)
Gilbert, Melissa A. | Bauer, Robert C. | Rajagopalan, Ramakrishnan | Grochowski, Christopher M. | Chao, Grace | McEldrew, Deborah | Nassur, James A. | Rand, Elizabeth B. | Krock, Bryan L. | Kamath, Binita M. | ... | Spinner, Nancy B.
Human Mutation, volume 40, issue 12, pages 2197-2220 (2019).
10.1002/humu.23879
Cited by (81) | Cite | Source
Association of Enterovirus D68 with Acute Flaccid Myelitis, Philadelphia, Pennsylvania, USA, 2009–2018 (journal article)
Uprety, Priyanka | Curtis, Darcy | Elkan, Michael | Fink, Jeffrey | Rajagopalan, Ramakrishnan | Zhao, Chunyu | Bittinger, Kyle | Mitchell, Stephanie | Ulloa, Erlinda R. | Hopkins, Sarah | Graf, Erin H.
Emerging Infectious Diseases, volume 25, issue 9, pages 1676-1682 (2019).
10.3201/eid2509.190468
Cited by (36) | Cite | Source
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India (journal article)
Amritkumar, Pavithra | Jeffrey, Justin Margret | Chandru, Jayasankaran | Vanniya S, Paridhy | Kalaimathi, M. | Ramakrishnan, Rajagopalan | Karthikeyen, N. P. | Srikumari Srisailapathy, C. R.
BMC Medical Genetics, volume 19, issue 1 (2018).
10.1186/s12881-018-0609-6
Cited by (6) | Cite | Source | Open Access
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss (journal article)
Sheppard, Sarah | Biswas, Sawona | Li, Mindy H. | Jayaraman, Vijayakumar | Slack, Ian | Romasko, Edward J. | Sasson, Ariella | Brunton, Joshua | Rajagopalan, Ramakrishnan | Sarmady, Mahdi | ... | Krantz, Ian D.
Genetics in Medicine, volume 20, issue 12, pages 1663-1676 (2018).
10.1038/s41436-018-0004-x
Cited by (26) | Cite | Source | Open Access
Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families – an evaluation (journal article)
Vanniya S, Paridhy | Chandru, Jayasankaran | Pavithra, Amritkumar | Jeffrey, Justin Margret | Kalaimathi, Murugesan | Ramakrishnan, Rajagopalan | Karthikeyen, Natarajan P. | C. R. Srikumari, Srisailapathy
Annals of Human Genetics, volume 82, issue 2, pages 119-126 (2018).
10.1111/ahg.12228
Cited by (11) | Cite | Source
NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states (journal article)
Mills, Jason A. | Herrera, Pamela S | Kaur, Maninder | Leo, Lanfranco | McEldrew, Deborah | Tintos-Hernandez, Jesus A | Rajagopalan, Ramakrishnan | Gagne, Alyssa | Zhang, Zhe | Ortiz-Gonzalez, Xilma R. | Krantz, Ian D.
Scientific Reports, volume 8, issue 1 (2018).
10.1038/s41598-018-19173-9
Cited by (22) | Cite | Source | Open Access
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders (journal article)
Romasko, Edward J. | Devkota, Batsal | Biswas, Sawona | Jayaraman, Vijayakumar | Rajagopalan, Ramakrishnan | Dulik, Matthew C. | Thom, Christopher S. | Choi, Jiwon | Jairam, Sowmya | Scarano, Maria I. | ... | Lambert, Michele P.
American Journal of Hematology, volume 93, issue 1, pages 8-16 (2018).
10.1002/ajh.24917
Cited by (21) | Cite | Source | Open Access
Investigating Structural Variation Using Optical Genome Mapping Technology (journal article)
Rajagopalan, Ramakrishnan | McEldrew, Deborah | Vaidiswaran, Priya | Zaykaner, Michael | Jayaraman, Vijayakumar | McCaffrey, Jennifer | Sibert, Justin | Xiao, Ming | Conlin, Laura
Cancer Genetics, volume 214-215 (2017).
10.1016/j.cancergen.2017.04.023
Cite | Source
Copy Number Detection in Exome Sequencing Compared to Chromosomal Microarray in a Clinical Setting (journal article)
Rajagopalan, Ramakrishnan | Devkota, Batsal | Jayaraman, Vijayakumar | Biswas, Sawona | Spinner, Nancy B. | Krantz, Ian D. | Conlin, Laura K.
Cancer Genetics, volume 209, issue 6, pages 300- (2016).
10.1016/j.cancergen.2016.04.052
Cite | Source
Compound heterozygous mutations in NEK8 in siblings with end‐stage renal disease with hepatic and cardiac anomalies (journal article)
Rajagopalan, Ramakrishnan | Grochowski, Christopher M. | Gilbert, Melissa A. | Falsey, Alexandra M. | Coleman, Karlene | Romero, Rene | Loomes, Kathleen M. | Piccoli, David A. | Devoto, Marcella | Spinner, Nancy B.
American Journal of Medical Genetics Part A, volume 170, issue 3, pages 750-753 (2016).
10.1002/ajmg.a.37512
Cited by (20) | Cite | Source