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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Published in:
Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0038-y
By:
- Li, Mindy H.;
- Abrudan, Jenica L.;
- Dulik, Matthew C.;
- Sasson, Ariella;
- Brunton, Joshua;
- Jayaraman, Vijayakumar;
- Dugan, Noreen;
- Haley, Danielle;
- Rajagopalan, Ramakrishnan;
- Biswas, Sawona;
- Sarmady, Mahdi;
- DeChene, Elizabeth T.;
- Deardorff, Matthew A.;
- Wilkens, Alisha;
- Noon, Sarah E.;
- Scarano, Maria I.;
- Santani, Avni B.;
- White, Peter S.;
- Pennington, Jeffrey;
- Conlin, Laura K.
Publication type:
Article
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death
Published in:
Human Genomics, 2015, v. 9, n. 1, p. 15, doi. 10.1186/s40246-015-0038-y
By:
- Li, Mindy H.;
- Abrudan, Jenica L.;
- Dulik, Matthew C.;
- Sasson, Ariella;
- Brunton, Joshua;
- Jayaraman, Vijayakumar;
- Dugan, Noreen;
- Haley, Danielle;
- Rajagopalan, Ramakrishnan;
- Biswas, Sawona;
- Sarmady, Mahdi;
- DeChene, Elizabeth T.;
- Deardorff, Matthew A.;
- Wilkens, Alisha;
- Noon, Sarah E.;
- Scarano, Maria I.;
- Santani, Avni B.;
- White, Peter S.;
- Pennington, Jeffrey;
- Conlin, Laura K.
Publication type:
Article
Densification and Strengthening of Ferrous‐Based Powder Compacts Through Cold Sintering Aided Warm Compaction.
Published in:
Advanced Engineering Materials, 2022, v. 24, n. 12, p. 1, doi. 10.1002/adem.202200714
By:
- Paradis, Linsea;
- Waryoba, Daudi;
- Robertson, Kyle;
- Ndayishimiye, Arnaud;
- Fan, Zhongming;
- Rajagopalan, Ramakrishnan;
- Randall, Clive A.
Publication type:
Article
Association of Enterovirus D68 with Acute Flaccid Myelitis, Philadelphia, Pennsylvania, USA, 2009-2018.
Published in:
2019
By:
- Uprety, Priyanka;
- Curtis, Darcy;
- Elkan, Michael;
- Fink, Jeffrey;
- Rajagopalan, Ramakrishnan;
- Zhao, Erin H.;
- Bittinger, Kyle;
- Mitchell, Stephanie;
- Ulloa, Erlinda R.;
- Hopkins, Sarah;
- Graf, Erin H.;
- Zhao, Chunyu
Publication type:
journal article
High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.
Published in:
Nucleic Acids Research, 2017, v. 45, n. 9, p. 1, doi. 10.1093/nar/gkx017
By:
- Young, Eleanor;
- Pastor, Steven;
- Rajagopalan, Ramakrishnan;
- McCaffrey, Jennifer;
- Sibert, Justin;
- Mak, Angel C. Y.;
- Kwok, Pui-Yan;
- Riethman, Harold;
- Ming Xiao
Publication type:
Article
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 750, doi. 10.1002/ajmg.a.37512
By:
- 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.
Publication type:
Article
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 891, doi. 10.1002/ajmg.a.36946
By:
- Grochowski, Christopher M.;
- Rajagopalan, Ramakrishnan;
- Falsey, Alexandra M.;
- Loomes, Kathleen M.;
- Piccoli, David A.;
- Krantz, Ian D.;
- Devoto, Marcella;
- Spinner, Nancy B.
Publication type:
Article
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Published in:
Nature Genetics, 2015, v. 47, n. 4, p. 338, doi. 10.1038/ng.3229
By:
- Izumi, Kosuke;
- Allen, Julian L;
- Dorsett, Dale;
- Misulovin, Ziva;
- Shirahige, Katsuhiko;
- Nakato, Ryuichiro;
- Komata, Makiko;
- Bando, Masashige;
- Katou, Yuki;
- Zhang, Zhe;
- Edmondson, Andrew C;
- Noon, Sarah;
- Clark, Dinah;
- Kaur, Maninder;
- Dulik, Matthew C;
- Rajagopalan, Ramakrishnan;
- Venditti, Charles P;
- Gripp, Karen;
- Samanich, Joy;
- Zackai, Elaine H
Publication type:
Article
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
Published in:
BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0609-6
By:
- Amritkumar, Pavithra;
- Jeffrey, Justin Margret;
- Chandru, Jayasankaran;
- Vanniya S, Paridhy;
- Kalaimathi, M.;
- Ramakrishnan, Rajagopalan;
- Karthikeyen, N. P.;
- Srikumari Srisailapathy, C. R.
Publication type:
Article
Genetic Substructure of Kuwaiti Population Reveals Migration History.
Published in:
PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074913
By:
- Alsmadi, Osama;
- Thareja, Gaurav;
- Alkayal, Fadi;
- Rajagopalan, Ramakrishnan;
- John, Sumi Elsa;
- Hebbar, Prashantha;
- Behbehani, Kazem;
- Thanaraj, Thangavel Alphonse
Publication type:
Article
Results of Genome-Wide Analyses on Neurodevelopmental Phenotypes at Four-Year Follow- Up following Cardiac Surgery in Infancy.
Published in:
PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045936
By:
- Kim, Daniel S.;
- Stanaway, Ian B.;
- Rajagopalan, Ramakrishnan;
- Bernbaum, Judy C.;
- Solot, Cynthia B.;
- Burnham, Nancy;
- Zackai, Elaine H.;
- Clancy, Robert R.;
- Nicolson, Susan C.;
- Gerdes, Marsha;
- Nickerson, Deborah A.;
- Hakonarson, Hakon;
- Gaynor, J. William;
- Jarvik, Gail P.;
- Crawford, Dana C.
Publication type:
Article
Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-023-00389-2
By:
- Kilich, Gonench;
- Hassey, Kelly;
- Behrens, Edward M.;
- Falk, Marni;
- Vanderver, Adeline;
- Rader, Daniel J.;
- Cahill, Patrick J.;
- Raper, Anna;
- Zhang, Zhe;
- Westerfer, Dawn;
- Jadhav, Tanaya;
- Conlin, Laura;
- Izumi, Kosuke;
- Rajagopalan, Ramakrishnan;
- Sullivan, Kathleen E.
Publication type:
Article
Genome maps across 26 human populations reveal population-specific patterns of structural variation.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08992-7
By:
- Levy-Sakin, Michal;
- Pastor, Steven;
- Mostovoy, Yulia;
- Li, Le;
- Leung, Alden K. Y.;
- McCaffrey, Jennifer;
- Young, Eleanor;
- Lam, Ernest T.;
- Hastie, Alex R.;
- Wong, Karen H. Y.;
- Chung, Claire Y. L.;
- Ma, Walfred;
- Sibert, Justin;
- Rajagopalan, Ramakrishnan;
- Jin, Nana;
- Chow, Eugene Y. C.;
- Chu, Catherine;
- Poon, Annie;
- Lin, Chin;
- Naguib, Ahmed
Publication type:
Article
High‐Voltage Stability of Ionic‐Liquid‐Based Electrochemical Double Layer Capacitors with a Bimodal Porous Carbon Electrode.
Published in:
ChemElectroChem, 2018, v. 5, n. 22, p. 3460, doi. 10.1002/celc.201801044
By:
- Aref, Amir Reza;
- Rajagopalan, Ramakrishnan;
- Randall, Clive A.
Publication type:
Article
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
Published in:
JAMA Neurology, 2017, v. 74, n. 10, p. 1228, doi. 10.1001/jamaneurol.2017.1714
By:
- de Kovel, Carolien G. F.;
- Syrbe, Steffen;
- Brilstra, Eva H.;
- Verbeek, Nienke;
- Kerr, Bronwyn;
- Dubbs, Holly;
- Bayat, Allan;
- Desai, Sonal;
- Naidu, Sakkubai;
- Srivastava,, Siddharth;
- Cagaylan, Hande;
- Uluc Yis;
- Saunders, Carol;
- Rook, Martin;
- Plugge, Susanna;
- Muhle, Hiltrud;
- Afawi, Zaid;
- Klein, Karl-Martin;
- Jayaraman, Vijayakumar;
- Rajagopalan, Ramakrishnan
Publication type:
Article
Exome Sequencing in Individuals with Isolated Biliary Atresia.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-59379-4
By:
- Rajagopalan, Ramakrishnan;
- Tsai, Ellen A.;
- Grochowski, Christopher M.;
- Kelly, Susan M.;
- Loomes, Kathleen M.;
- Spinner, Nancy B.;
- Devoto, Marcella
Publication type:
Article
Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in the GJB2 Gene: Nonsyndromic presentation in a South Indian Family.
Published in:
Annals of Human Genetics, 2015, v. 79, n. 1, p. 1, doi. 10.1111/ahg.12086
By:
- Pavithra, Amritkumar;
- Selvakumari, Mathiyalagan;
- Nityaa, Venkatesan;
- Sharanya, Narasimhan;
- Ramakrishnan, Rajagopalan;
- Narasimhan, Murali;
- Srisailapathy, C.R. Srikumari
Publication type:
Article
Complete Mitochondrial Genome Analysis and Clinical Documentation of a Five-Generational Indian Family with Mitochondrial 1555A>G Mutation and Postlingual Hearing Loss.
Published in:
Annals of Human Genetics, 2014, v. 78, n. 3, p. 217, doi. 10.1111/ahg.12061
By:
- Subathra, Mahalingam;
- Selvakumari, Mathiyalagan;
- Ramesh, Arabandi;
- Ramakrishnan, Rajagopalan;
- Karan, Kalpita Rashmi;
- Kaur, Manpreet;
- Manikandan, Mayakannan;
- Srikumari Srisailapathy, C. R.
Publication type:
Article
Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing.
Published in:
Clinical Chemistry, 2023, v. 69, n. 6, p. 545, doi. 10.1093/clinchem/hvad044
By:
- Luo, Minjie;
- Conlin, Laura K.;
- Rajagopalan, Ramakrishnan
Publication type:
Article
Recurrence of reported <italic>CDH23</italic> mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families – an evaluation.
Published in:
Annals of Human Genetics, 2018, v. 82, n. 2, p. 119, doi. 10.1111/ahg.12228
By:
- Vanniya S, Paridhy;
- Chandru, Jayasankaran;
- Pavithra, Amritkumar;
- Jeffrey, Justin Margret;
- Kalaimathi, Murugesan;
- Ramakrishnan, Rajagopalan;
- Karthikeyen, Natarajan P.;
- C. R. Srikumari, Srisailapathy
Publication type:
Article
Electrochemical copolymerization and characterization of aniline and isoprene in aqueous p-toluene sulfonic acid solution.
Published in:
Journal of Applied Polymer Science, 2002, v. 84, n. 1, p. 184, doi. 10.1002/app.10298
By:
- Iroh, Jude O.;
- Rajagopalan, Ramakrishnan
Publication type:
Article
Electrochemical deposition of polyaniline-polypyrrole composite coatings on aluminum.
Published in:
Journal of Applied Polymer Science, 2002, v. 83, n. 9, p. 1970, doi. 10.1002/app.10123
By:
- Akundy, Gouri Smitha;
- Rajagopalan, Ramakrishnan;
- Iroh, Jude O.
Publication type:
Article
Electrochemical polymerization of aniline on carbon fibers in aqueous toluene sulfonate solution.
Published in:
Journal of Applied Polymer Science, 2000, v. 76, n. 10, p. 1503, doi. 10.1002/(SICI)1097-4628(20000606)76:10<1503::AID-APP3>3.0.CO;2-B
By:
- Iroh, Jude O.;
- Rajagopalan, Ramakrishnan
Publication type:
Article
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Published in:
American Journal of Hematology, 2018, v. 93, n. 1, p. 8, doi. 10.1002/ajh.24917
By:
- Romasko, Edward J.;
- Devkota, Batsal;
- Biswas, Sawona;
- Jayaraman, Vijayakumar;
- Rajagopalan, Ramakrishnan;
- Dulik, Matthew C.;
- Thom, Christopher S.;
- Choi, Jiwon;
- Jairam, Sowmya;
- Scarano, Maria I.;
- Krantz, Ian D.;
- Spinner, Nancy B.;
- Conlin, Laura K.;
- Lambert, Michele P.
Publication type:
Article
Cover Feature: Cold Sintering of a Covalently Bonded MoS<sub>2</sub>/Graphite Composite as a High Capacity Li–Ion Electrode (ChemNanoMat 10/2018).
Published in:
ChemNanoMat, 2018, v. 4, n. 10, p. 1022, doi. 10.1002/cnma.201800423
By:
- Nayir, Selda;
- Waryoba, Daudi R.;
- Rajagopalan, Ramakrishnan;
- Arslan, Cüneyt;
- Randall, Clive A.
Publication type:
Article
Cold Sintering of a Covalently Bonded MoS<sub>2</sub>/Graphite Composite as a High Capacity Li–Ion Electrode.
Published in:
ChemNanoMat, 2018, v. 4, n. 10, p. 1088, doi. 10.1002/cnma.201800342
By:
- Nayir, Selda;
- Waryoba, Daudi R.;
- Rajagopalan, Ramakrishnan;
- Arslan, Cüneyt;
- Randall, Clive A.
Publication type:
Article
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1531, doi. 10.1002/humu.24465
By:
- Conlin, Laura K.;
- Aref‐Eshghi, Erfan;
- McEldrew, Deborah A.;
- Luo, Minjie;
- Rajagopalan, Ramakrishnan
Publication type:
Article
Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Published in:
Human Mutation, 2020, v. 41, n. 5, p. 973, doi. 10.1002/humu.23986
By:
- 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.;
- Klee, Eric W.;
- Piccoli, David A.;
- Spinner, Nancy B.
Publication type:
Article
Back Cover, Volume 40, Issue 12.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. iii, doi. 10.1002/humu.23956
By:
- 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.;
- Krantz, Ian D.;
- Piccoli, David A.;
- Loomes, Kathleen M.;
- Spinner, Nancy B.
Publication type:
Article
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. 2197, doi. 10.1002/humu.23879
By:
- 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.;
- Krantz, Ian D.;
- Piccoli, David A.;
- Loomes, Kathleen M.;
- Spinner, Nancy B.
Publication type:
Article
Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia.
Published in:
Human Mutation, 2015, v. 36, n. 6, p. 631, doi. 10.1002/humu.22786
By:
- Tsai, Ellen A.;
- Grochowski, Christopher M.;
- Falsey, Alexandra M.;
- Rajagopalan, Ramakrishnan;
- Wendel, Danielle;
- Devoto, Marcella;
- Krantz, Ian D.;
- Loomes, Kathleen M.;
- Spinner, Nancy B.
Publication type:
Article
Endoscopic Sinus Surgery in Chronic Rhinosinusitis and Nasal Polyposis: A Comparative Study.
Published in:
Indian Journal of Otolaryngology & Head & Neck Surgery, 2011, v. 63, n. 1, p. 50, doi. 10.1007/s12070-011-0119-8
By:
- Nair, Satish;
- Dutta, Angshuman;
- Rajagopalan, Ramakrishnan;
- Nambiar, Sapna
Publication type:
Article
A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-0712-0
By:
- Rajagopalan, Ramakrishnan;
- Murrell, Jill R.;
- Luo, Minjie;
- Conlin, Laura K.
Publication type:
Article
Role of Additives in Formation of Solid-Electrolyte Interfaces on Carbon Electrodes and their Effect on High-Voltage Stability.
Published in:
ChemSusChem, 2014, v. 7, n. 4, p. 1162, doi. 10.1002/cssc.201300858
By:
- Qu, Weiguo;
- Dorjpalam, Enkhtuvshin;
- Rajagopalan, Ramakrishnan;
- Randall, Clive A.
Publication type:
Article
Transient behavior of electrical conductivity in low‐density polyethylene in the presence of acetophenone.
Published in:
Journal of Applied Polymer Science, 2022, v. 139, n. 14, p. 1, doi. 10.1002/app.51881
By:
- Hamedi, Hossein;
- Walker, Roger C.;
- Woodward, W. H. Hunter;
- Rajagopalan, Ramakrishnan;
- Furman, Eugene;
- Lanagan, Michael T.
Publication type:
Article

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