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D. Fasel · SciRah

Researcher profile · Semantic Scholar

D. Fasel

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D. Fasel — researcher profile on SciRah

h-index: 20
Works: 32
Citations: 2,570

Most-cited papers

Diagnostic Utility of Exome Sequencing for Kidney Disease
E. Groopman, M. Marasà, Sophia R. Cameron-Christie, S. Petrovski +48 more
2018New England Journal of Medicine702 citations Open access
Semantic Scholar
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens
K. Kiryluk, Yifu Li, F. Scolari, S. Sanna-Cherchi +88 more
2014Nature Genetics602 citations Open access
Semantic Scholar
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M. Verbitsky, R. Westland, Alejandra Pérez, K. Kiryluk +86 more
2018Nature Genetics195 citations Open access
Semantic Scholar
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
Esther López-Rivera, Yangfan P. Liu, M. Verbitsky, Blair R. Anderson +78 more
2017New England Journal of Medicine122 citations Open access
Semantic Scholar
Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study
Sneh Lata, M. Marasà, Yifu Li, D. Fasel +28 more
2017Annals of Internal Medicine118 citations Open access
Semantic Scholar
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
Hana Zouk, E. Venner, N. Lennon, D. Muzny +231 more
2019American Journal of Human Genetics97 citations Open access
Semantic Scholar
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
S. Sanna-Cherchi, Kamal Khan, R. Westland, Priya Krithivasan +45 more
2017American Journal of Human Genetics79 citations Open access
Semantic Scholar
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney
R. Westland, M. Verbitsky, K. Vukojević, Brittany J. Perry +11 more
2015Kidney International77 citations Open access
Semantic Scholar
Genomic imbalances in pediatric patients with chronic kidney disease.
M. Verbitsky, S. Sanna-Cherchi, D. Fasel, B. Levy +9 more
2015Journal of Clinical Investigation74 citations Open access
Semantic Scholar
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
H. Rasouly, E. Groopman, Reuben Heyman-Kantor, D. Fasel +11 more
2018Annals of Internal Medicine71 citations
Semantic Scholar
Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry
Cong Liu, N. Zeinomar, W. Chung, K. Kiryluk +20 more
2021JAMA Network Open69 citations Open access
Semantic Scholar
Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies
N. Shang, Atlas Khan, Fernanda C. G. Polubriaginof, Francesca Zanoni +29 more
2021npj Digital Medicine69 citations Open access
Semantic Scholar
Type IV Collagen Mutations in Familial IgA Nephropathy
Yifu Li, E. Groopman, V. D'Agati, Sindhuri Prakash +14 more
2020Kidney International Reports39 citations Open access
Semantic Scholar
Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis
J. Salem, M. Shoemaker, L. Bastarache, C. Shaffer +19 more
2019JAMA cardiology34 citations Open access
Semantic Scholar
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
S. Sanna-Cherchi, Kamal Khan, R. Westland, Priya Krithivasan +45 more
2017American Journal of Human Genetics30 citations Open access
Semantic Scholar
GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing
Hila Milo Rasouly, Nicole Cuneo, M. Marasà, Natalia DeMaria +9 more
2020Journal of Genetic Counseling25 citations Open access
Semantic Scholar
Rapid Exome Sequencing in PICU Patients with New Onset Metabolic or Neurological Disorders
A. S. Carey, J. Schacht, Christine Umandap, D. Fasel +4 more
2020Pediatric Research23 citations Open access
Semantic Scholar
Do research participants share genomic screening results with family members?
J. Wynn, H. Rasouly, Tania Vásquez-Loarte, A. Saami +26 more
2021Journal of Genetic Counseling21 citations Open access
Semantic Scholar
Genomic considerations for FHIR®; eMERGE implementation lessons
M. Murugan, L. Babb, C. O. Taylor, Luke V. Rasmussen +22 more
2021Journal of Biomedical Informatics21 citations Open access
Semantic Scholar
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
M. Verbitsky, Priya Krithivasan, Ekaterina Batourina, Atlas Khan +75 more
2021Journal of the American Society of Nephrology20 citations Open access
Semantic Scholar
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study
Hila Milo Rasouly, J. Wynn, M. Marasà, R. Reingold +34 more
2019Genetics in Medicine17 citations Open access
Semantic Scholar
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets
Pankhuri Singhal, Y. Veturi, S. Dudek, A. Lucas +15 more
2022medRxiv14 citations Open access
Semantic Scholar
Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Hila Milo Rasouly, Sarath Babu Krishna Murthy, N. Vena, G. Povysil +104 more
2025Nature Communications13 citations Open access
Semantic Scholar
Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network
Xinyuan Zhang, Y. Veturi, S. Verma, W. Bone +20 more
2018Pacific Symposium on Biocomputing12 citations Open access
Semantic Scholar
An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results
J. Nestor, Alex Fedotov, D. Fasel, M. Marasà +8 more
2021JAMIA Open10 citations Open access
Semantic Scholar
Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network
M. Palmer, D. S. Kim, D. Crosslin, I. Stanaway +20 more
2020Genetic Epidemiology7 citations Open access
Semantic Scholar
Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))
S. Sanna-Cherchi, Kamal Khan, R. Westland, Priya Krithivasan +45 more
20177 citations
Semantic Scholar
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M. Verbitsky, R. Westland, Alejandra Pérez, K. Kiryluk +86 more
2019Nature Genetics5 citations Open access
Semantic Scholar
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Hila Milo Rasouly, Sarath Krishna Murthy, N. Vena, G. Povysil +104 more
2025Nature Communications0 citations Open access
Semantic Scholar
Generalizability of Polygenic Risk Scores for Breast Cancer in the Multiethnic eMERGE Study
Cong Liu, N. Zeinomar, W. Chung, K. Kiryluk +18 more
2020medRxiv0 citations Open access
Semantic Scholar
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study
H. Rasouly, J. Wynn, M. Marasà, R. Reingold +34 more
2019Genetics in Medicine0 citations Open access
Semantic Scholar
CYSTIC DISEASE AND CILIOPATHIES
J. Hoshino, Tatsuya Suwabe, K. Sumida, K. Mise +42 more
20140 citations Open access
Semantic Scholar

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