Ramakrishnan Rajagopalan, PhD

Assistant Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Perelman School of Medicine at the University of Pennsylvania

Contact InformationThe Children's Hospital of Philadelphia
Abramson Research Center - Room 716-J
3615 Civic Center Blvd.

Philadelphia, PA, 19104


B.Eng. (Engineering), Anna University, 2005
MS (Biomedical Engineering), Louisiana Tech University, 2007
PhD (Biomedical Engineering), Drexel University, 2021

Specialty Certification

Postgraduate Training

Awards and Honors

Best Poster Award, Research Poster Day 2015, Children’s Hospital of Philadelphia, Philadelphia PA., 2015
2nd Prize, Abstract competition, Cancer Genomics Consortium meeting 2017, Denver, CO, 2017
“Emerging Innovator in Collaborative Research”, Children’s Hospital of Philadelphia, Philadelphia PA., 2020

Memberships and Professional Organizations

American Society of Human Genetics, 2020 - Present

Web Links

Selected Publications

Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

Laura K. Conlin, Erfan Aref-Eshghi, Deborah A. McEldrew, Minjie Luo, Ramakrishnan Rajagopalan, Human Mutation, 2022, PMID:36086952

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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Rajagopalan R*, Gilbert MA*, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, Spinner NB, Genetics In Medicine 23(2): 323-330, 2021

Clinical utility of long read sequencing in resolving inconclusive diagnoses due to gene conversions and unknown phase

Ramakrishnan Rajagopalan, Deborah McEldrew, Minjie Luo, Laura K. Conlin, American Society of Human Genetics Meeting 2021, 2021

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data,

Rajagopalan R, Murrell JR, Luo M, Conlin LK., Genome Medicine 12(1): 14, 2020

Protein-elongating mutations in MYH11 are implicated in a dominantly-inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease

Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB, Human Mutation 41(5): 973-982, 2020

Exome sequencing in individuals with isolated Biliary Atresia

Rajagopalan R, Tsai EA, Grochowski CM, Kelly SM, Loomes KM, Spinner NB, Devoto M, Scientific Reports 10(2709): , 2020

Impaired redox and protein homeostasis as risk factors and therapeutic targets in toxin-induced biliary atresia

Zhao X, Lorent K, Escobar-Zarate D, Rajagopalan R, Loomes KM, Gillespie K, Mesaros C, Estrada MA, Blair I, Winkler JD, Spinner NB, Devoto M, Pack MA., Gastroenterology 159(3): 1068-1084, 2020

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification,

Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB., Human Mutation 40(12): 2197-2220, 2019

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome,

Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ, Childhood Liver Disease Research Network (ChiLDReN), Hepatology 70(3): 899-910, 2019

Genome maps across 26 human populations reveal population-specific patterns of structural variation

Levy-Sakin M, Pastor S, Mostovoy Y, Li L, Leung AKY, McCaffrey J, Young E, Lam ET, Hastie AR, Wong KHY, Chung CYL, Ma W, Sibert J, Rajagopalan R, Jin N, Chow EYC, Chu C, Poon A, Lin C, Naguib A, Wang WP, Cao H, Chan TF, Yip KY, Xiao M, Kwok PY, Nature Communications 10(1): 1025, 2019