Deborah McEldrew

ScholarGPS® ID: 48958493759855

Affiliation

Children's Hospital of Philadelphia

Affiliation History

Field

Medicine

Discipline

Pathology

Top Specialties

Colorectal Cancer | Human Mutation

Metrics Summary

Publication Count

Predicted Citations

255

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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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
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 Centralized Approach for Practicing Genomic Medicine (journal article) Biswas, Sawona \| Medne, Livija \| Devkota, Batsal \| Bedoukian, Emma \| Berrodin, Donna \| Izumi, Kosuke \| Deardorff, Matthew A. \| Tarpinian, Jennifer \| Leonard, Jacqueline \| Pyle, Loiusa \| ... \| Krantz, Ian D. Pediatrics, volume 145, issue 3 (2020). 10.1542/peds.2019-0855 Cited by (3) \| 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
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
Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis (journal article) Salzano, E \| Raible, SE \| Kaur, M \| Wilkens, A \| Sperti, G \| Tilton, RK \| Bettini, LR \| Rocca, A \| Cocchi, G \| Selicorni, A \| ... \| Krantz, ID American Journal of Medical Genetics Part A, volume 176, issue 12, pages 2575-2586 (2018). 10.1002/ajmg.a.40499 Cited by (21) \| Cite \| Source
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 (journal article) Chen, Ying \| Gilbert, Melissa A. \| Grochowski, Christopher M. \| McEldrew, Deborah \| Llewellyn, Jessica \| Waisbourd-Zinman, Orith \| Hakonarson, Hakon \| Bailey-Wilson, Joan E. \| Russo, Pierre \| Wells, Rebecca G. \| ... \| Devoto, Marcella PLOS Genetics, volume 14, issue 8, pages e1007532- (2018). 10.1371/journal.pgen.1007532 Cited by (44) \| Cite \| Source \| Open Access
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
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
Human colon carcinoma cell lines from the primary tumor and a lymph node metastasis (journal article) Danielson, Keith G. \| McEldrew, Deborah \| Alston, James T. \| Roling, Daniel B. \| Damjanov, Andrea \| Damjanov, Ivan \| Daskal, Ierachmiel \| Spinner, Nancy In Vitro Cellular & Developmental Biology - Animal, volume 28, issue 1, pages 7-10 (1992). 10.1007/BF02631073 Cited by (3) \| Cite \| Source
Human colon carcinoma cell lines from the primary tumor and a lymph node metastasis. (journal article) Danielsor, K G \| Damjanov, A \| McEldrew, D \| Damjanov, I \| Alston, J T \| Daskal, I \| Roling, D B \| Spinner, N In vitro cellular & developmental biology : journal of the Tissue Culture Association, volume 28A, issue 1 (1992). Cite
The role of cytologic NOR variants in the etiology of trisomy 21. (journal article) Spinner, N B \| Eunpu, D L \| Schmickel, R D \| Zackai, E H \| McEldrew, D \| Bunin, G R \| McDermid, H \| Emanuel, B S American journal of human genetics, volume 44, issue 5 (1989). Cited by (6) \| Cite