Beth A. Kozel

Also affiliated with Nationwide Children's Hospital, National Heart Lung and Blood Institute

NeuroscienceBiochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 39 papers. Top paper: “Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA”.

Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA

eLife(2021)10.7554/elife.67250

N/A

0.585DataRank · unranked

14 citations

Beenish Rahat, Hyung Chul Lee, Zu‐Xi Yu, Jacob Noeker, Apratim Mitra +7 more

Variegation of autism related traits across seven neurogenetic disorders

Translational Psychiatry(2022)10.1038/s41398-022-01895-0

N/A

0.566DataRank · unranked

14 citations

Xin Niu, Fengqing Zhang, Liv Clasen, Beth A. Kozel, Ann C. M. Smith +3 more

Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death

JACC. Clinical electrophysiology(2022)10.1016/j.jacep.2022.10.010

N/A

0.241DataRank · unranked

4 citations

Brianna Cathey, Kevin M. Smith, Sharon Osgood, Neelam Raja, Yi‐Ping Fu +2 more

Neuraxial dysraphism in EPAS1- associated syndrome due to improper mesenchymal transition

Neurology Genetics(2020)10.1212/nxg.0000000000000414

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0DataRank · unranked

15 citations

Anthony J. Cappadona, Davis P. Argersinger, Ying Pang, Herui Wang, Matthew A. Nazari +11 more

Vascular Casting of Adult and Early Postnatal Mouse Lungs for Micro-CT Imaging

Journal of Visualized Experiments(2020)10.3791/61242

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0DataRank · unranked

10 citations

Leah M. Gober, Joseph Sukinik, Danielle Donahue, Elise K. Kronquist, Mark Levin +3 more

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

Environmental Health(2020)10.1186/s12940-020-00611-z

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0DataRank · unranked

35 citations

Paul Kruszka, Angela Troia, Zoë C. Wong, Joshua L. Everson, Beth A. Kozel +4 more

Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome

Journal of Clinical Investigation(2020)10.1172/jci135490

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0DataRank · unranked

26 citations

Avram Walts, Dai Phuong Nguyen, Alex Grubb, Xue Zhang, Xujing Wang +22 more

Whole exome sequencing in patients with Williams–Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk

Human Molecular Genetics(2020)10.1093/hmg/ddaa093

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0DataRank · unranked

23 citations

Delong Liu, Russell H. Knutsen, Charles J. Billington, Robert P. Mecham, Yi-Ping Fu +2 more

Williams syndrome

Nature Reviews Disease Primers(2021)10.1038/s41572-021-00276-z

N/A

0DataRank · unranked

244 citations

Boaz Barak, Chong Ae Kim, Carolyn Β. Mervis, Lucy R. Osborne, Melanie Porter +2 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

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0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

Developmental vascular malformations in EPAS1 gain-of-function syndrome

JCI Insight(2021)10.1172/jci.insight.144368

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0DataRank · unranked

26 citations

Herui Wang, Pauline Dmitriev, Anthony J. Cappadona, Panagiotis Mastorakos, Chen Xu +19 more

Inhibition of NOX1 Mitigates Blood Pressure Increases in Elastin Insufficiency

Function(2021)10.1093/function/zqab015

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0DataRank · unranked

15 citations

Russell H. Knutsen, Carmen M. Halabi, Daniela Malide, Zu Xi Yu, Amanda Wardlaw-Pickett +6 more

Loss of Angiotensin II Type 2 Receptor Improves Blood Pressure in Elastin Insufficiency

Frontiers in Cardiovascular Medicine(2021)10.3389/fcvm.2021.782138

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0DataRank · unranked

7 citations

Robyn Roth, Beth A. Kozel, Robert P. Mecham, Carmen M. Halabi, Michelle Lin

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

Genetics in Medicine(2021)10.1038/s41436-021-01224-8

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0DataRank · unranked

14 citations

Simona Bianconi, Andrew C. Smith, Niamh X. Cawley, An Dang, Dylan Hammond +14 more

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

British Journal of Ophthalmology(2022)10.1136/bjophthalmol-2022-321103

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0DataRank · unranked

23 citations

Taylor Flaherty, Rosalie Nolen, Lev Prasov, Wadih M. Zein, Catherine A. Cukras +8 more

Non-invasive in situ visualization of the murine cranial vasculature

Cell Reports Methods(2022)10.1016/j.crmeth.2021.100151

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0DataRank · unranked

13 citations

Anthony J. Cappadona, Pashayar P. Lookian, Vikram Chandrashekhar, Jean-Paul Bryant, Vibhu Chandrashekhar +9 more

NIH Toolbox Cognition Battery Feasibility in Individuals With Williams Syndrome

American Journal on Intellectual and Developmental Disabilities(2022)10.1352/1944-7558-127.6.473

N/A

0DataRank · unranked

8 citations

Lindsey Becker, Cristan Farmer, Aaron J. Kaat, Colby Chlebowski, Beth A. Kozel +2 more

Perspectives on Cognitive Phenotypes and Models of Vascular Disease

Arteriosclerosis Thrombosis and Vascular Biology(2022)10.1161/atvbaha.122.317395

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0DataRank · unranked

7 citations

Marc F. Charette, Zorina S. Galis, Adam Greenstein, Alan Daugherty, Anne Joutel +16 more

Copper-Binding Domain Variation in a Novel Murine Lysyl Oxidase Model Produces Structurally Inferior Aortic Elastic Fibers Whose Failure Is Modified by Age, Sex, and Blood Pressure

International Journal of Molecular Sciences(2022)10.3390/ijms23126749

N/A

0DataRank · unranked

7 citations

Russell H. Knutsen, Charles J. Billington, Eric Lindberg, Heiko Steenbock, Yi‐Ping Fu +8 more

Airflow Obstruction in Adults with Williams Syndrome and Mice with Elastin Insufficiency

Diagnostics(2022)10.3390/diagnostics12061438

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0DataRank · unranked

4 citations

Maninder Kaur, Leah M. Gober, Russell H. Knutsen, Yi‐Ping Fu, Zu‐Xi Yu +8 more

Extending the spectrum in aortopathy: stenosis to aneurysm

Current Opinion in Genetics & Development(2022)10.1016/j.gde.2022.101962

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0DataRank · unranked

4 citations

Beth A. Kozel, Teresa Romeo Luperchio

Baz1b Dosage Influences Cardiovascular Function, Predisposing to Dilated Cardiomyopathy

支部生活：中共云南省委党刊(2022)10.1096/fasebj.2022.36.s1.r2293

N/A

0DataRank · unranked

0 citations

Russell H. Knutsen, Mark Levin, Yi‐Ping Fu, Danielle Springer, Elise K. Kronquist +4 more

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

medRxiv(2022)10.1101/2022.09.21.22280107

N/A

0DataRank · unranked

0 citations

Charles J. Billington, Niranjan Raja, Zoë C. Wong, Mark Levin, Wolfgang Resch +20 more

Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice

Journal of Clinical Investigation(2023)10.1172/jci166134

N/A

0DataRank · unranked

54 citations

Russell H. Knutsen, Feiyang Ma, Ana Mompeón, Gloria E. Hernandez, Jocelynda Salvador +20 more

Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes

Developmental Biology(2023)10.1016/j.ydbio.2023.09.007

N/A

0DataRank · unranked

5 citations

Basil A. McIntosh, Russell H. Knutsen, Mark Levin, Kit Man Tsang, Beth A. Kozel +2 more

A protocol for visualization of murine in situ neurovascular interfaces

STAR Protocols(2023)10.1016/j.xpro.2023.102367

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0DataRank · unranked

2 citations

Vikram Chandrashekhar, Vibhu Chandrashekhar, Nagela Ghabdanzanluqui, Russell H. Knutsen, Matthew A. Nazari +9 more

A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions

Journal of the American Medical Informatics Association(2024)10.1093/jamia/ocae128

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0DataRank · unranked

36 citations

Beth A. Kozel, Sara Gracefo, Nykole Sutherland, Christopher J. Danford, Nephi Walton +1 more

Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63827

N/A

0DataRank · unranked

7 citations

Yi‐Ping Fu, Neelam Raja, Emily Ruiz‐Escobar, Likitha Nimmagadda, Sharon Osgood +4 more

Increased heart rate fragmentation in those with Williams–Beuren syndrome suggests nonautonomic mechanistic contributors to sudden death risk

American Journal of Physiology-Heart and Circulatory Physiology(2024)10.1152/ajpheart.00601.2023

N/A

0DataRank · unranked

2 citations

Anna Bellach, James Troendle, Kevin M. Smith, Sharon Osgood, Neelam Raja +3 more

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome

Journal of the American Heart Association(2024)10.1161/jaha.123.031377

N/A

0DataRank · unranked

2 citations

Charles J. Billington, Neelam Raja, Zoë C. Wong, Mark Levin, Wolfgang Resch +20 more

Phenotypic findings associated with variation in elastin

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100388

N/A

0DataRank · unranked

1 citations

Melissa Kelly, Gary A. Bellus, Joshua D Green, Raza Zaidi, Taylor Kerrins +5 more

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping

medRxiv(2024)10.1101/2024.09.17.24313555

N/A

0DataRank · unranked

0 citations

Carolyn Β. Mervis, Mark Levin, Elisa Biamino, Maria Francesca Bedeschi, M. Cristina Digilio +11 more

Toward a rational therapeutic for elastin related disease: Key considerations for elastin based regenerative medicine strategies

Matrix Biology(2025)10.1016/j.matbio.2025.03.003

N/A

0DataRank · unranked

6 citations

Yanina Tkachenko, Russell H. Knutsen, Beth A. Kozel, Meysam Ganjibakhsh

Head and neck paraganglioma in Pacak-Zhuang syndrome

JNCI Cancer Spectrum(2025)10.1093/jncics/pkaf001

N/A

0DataRank · unranked

3 citations

Yasemin Cole, Danielle Dang, Pashayar P. Lookian, Hussam Alkaissi, Mayank Patel +18 more

Sudden death and asymptomatic arrhythmia in chronic lymphocytic leukemia patients treated with ibrutinib

Heart Rhythm(2025)10.1016/j.hrthm.2025.10.014

N/A

0DataRank · unranked

0 citations

Andy Itsara, Mark C. Haigney, Douglas R. Rosing, Inhye E. Ahn, Cody Peer +7 more

Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61522

N/A

0DataRank · unranked

41 citations

Zoë C. Wong, Charles J. Billington, Phoebe C. R. Parrish, Glennis Muldoon, Delong Liu +3 more

In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome

Child Neuropsychology(2025)10.1080/09297049.2025.2603410

N/A

0DataRank · unranked

0 citations

Bonnie Klein-Tasman, Ashley Chun, Ivy Giserman-Kiss, Beth A. Kozel, Audrey Thurm +1 more

Identifying environmental risk factors and gene–environment interactions in holoprosencephaly

Birth Defects Research(2020)10.1002/bdr2.1834

N/A

0DataRank · unranked

24 citations

Angela Troia, Zoë C. Wong, Joshua L. Everson, Beth A. Kozel, Maximilian Muenke +4 more

Vascular elastic fiber heterogeneity in health and disease

Current Opinion in Hematology(2020)10.1097/moh.0000000000000578

N/A

0DataRank · unranked

22 citations

Beth A. Kozel, Carmen M. Halabi