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Linda J. B. Jeng · SciRah

Researcher profile · Semantic Scholar

Linda J. B. Jeng

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Linda J. B. Jeng — researcher profile on SciRah

h-index: 20
Works: 48
Citations: 2,258

Most-cited papers

Human Disease Ontology 2018 update: classification, content and workflow expansion
L. Schriml, Elvira Mitraka, James B. Munro, Becky Tauber +16 more
2018Nucleic Acids Res.463 citations Open access
Semantic Scholar
Multi-site Investigation of Outcomes with Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy after Percutaneous Coronary Intervention
L. Cavallari, Craig R. Lee, Amber L. Beitelshees, R. Cooper-DeHoff +61 more
2017JACC: Cardiovascular Interventions282 citations Open access
Semantic Scholar
Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability
A. Noor, Annabel C. Whibley, C. Marshall, P. Gianakopoulos +52 more
2010Science Translational Medicine207 citations Open access
Semantic Scholar
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
G. Putcha, B. Bejjani, S. Bléoo, J. Booker +25 more
2007Genetics in Medicine165 citations Open access
Semantic Scholar
Multi-site investigation of strategies for the implementation of CYP2C19 genotype-guided antiplatelet therapy
P. Empey, J. Stevenson, S. Tuteja, K. Weitzel +22 more
2018Clinical pharmacology and therapy120 citations Open access
Semantic Scholar
An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants
Jeffrey W. Kleinberger, Kristin A. Maloney, T. Pollin, Linda J. B. Jeng
2016Genetics in Medicine116 citations Open access
Semantic Scholar
IMPLEMENTATION OF PHARMACOGENETICS: THE UNIVERSITY OF MARYLAND PERSONALIZED ANTI-PLATELET PHARMACOGENETICS PROGRAM
A. Shuldiner, Kathleen Palmer, Ruth E. Pakyz, Tameka D. Alestock +17 more
2014American Journal of Medical Genetics. Part C, Seminars in Medical Genetics95 citations Open access
Semantic Scholar
The IGNITE Pharmacogenetics Working Group: An Opportunity for Building Evidence with Pharmacogenetic Implementation in a Real‐World Setting
L. Cavallari, Amber L. Beitelshees, K. Blake, Lynn G. Dressler +23 more
2017Clinical and Translational Science84 citations Open access
Semantic Scholar
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
M. D. Kessler, L. Yerges-Armstrong, M. Taub, A. Shetty +9 more
2016Nature Communications83 citations Open access
Semantic Scholar
Transgenic Expression of Human Connexin32 in Myelinating Schwann Cells Prevents Demyelination in Connexin32-Null Mice
S. Scherer, Yi-Tian Xu, A. Messing, K. Willecke +2 more
2005Journal of Neuroscience82 citations Open access
Semantic Scholar
Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology.
M. Hegde, S. Bale, P. Bayrak-Toydemir, Jane S. Gibson +10 more
2015Journal of Molecular Diagnostics62 citations Open access
Semantic Scholar
The effects of a dominant connexin32 mutant in myelinating Schwann cells.
Linda J. B. Jeng, R. Balice-Gordon, A. Messing, K. Fischbeck +1 more
2006Molecular and cellular neurosciences54 citations
Semantic Scholar
DeFi Protocol Risks: The Paradox of DeFi
Nic Carter, Linda J. B. Jeng
2021Social Science Research Network51 citations Open access
Semantic Scholar
FDA approval summary for lonafarnib (Zokinvy) for the treatment of Hutchinson-Gilford progeria syndrome and processing-deficient progeroid laminopathies.
Maria Suzuki, Linda J. B. Jeng, Solomon Chefo, Yan Wang +16 more
2022Genetics in Medicine45 citations
Semantic Scholar
Asparaginase Erwinia chrysanthemi effectively depletes plasma glutamine in adult patients with relapsed/refractory acute myeloid leukemia
A. Emadi, Jennie Y. Law, E. Strovel, R. Lapidus +17 more
2017Cancer Chemotherapy and Pharmacology45 citations
Semantic Scholar
Low‐level mosaicism of trisomy 14: Phenotypic and molecular characterization
M. Shinawi, L. Shao, Linda J. B. Jeng, C. Shaw +5 more
2008American Journal of Medical Genetics. Part A43 citations
Semantic Scholar
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Liang Guo, S. Torii, Raquel Fernandez, Ryan E. Braumann +41 more
2021JAMA cardiology42 citations Open access
Semantic Scholar
Educational innovations in clinical pharmacogenomics
Christina G. Perry, Kristin A. Maloney, Amber L. Beitelshees, Linda J. B. Jeng +3 more
2016Clinical pharmacology and therapy22 citations
Semantic Scholar
User-centered design of multi-gene sequencing panel reports for clinicians
E. Cutting, Meghan Banchero, Amber L. Beitelshees, J. Cimino +11 more
2016Journal of Biomedical Informatics22 citations Open access
Semantic Scholar
Genetic advances in central nervous system malformations in the fetus and neonate.
Linda J. B. Jeng, Rocio Tarvin, N. Robin
2001Seminars in Pediatric Neurology21 citations
Semantic Scholar
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies
Heather H. Pua, S. Krishnamurthi, J. Farrell, Marta Margeta +4 more
2014American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
5HTTLPR predicts left fusiform gyrus activation to positive emotional stimuli
H. Demaree, J. Pu, J. Jesberger, N. Feeny +4 more
2008Magnetic Resonance Imaging19 citations Open access
Semantic Scholar
2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia.
K. Bermudez-Wagner, Linda J. B. Jeng, A. Slavotinek, E. Sanford
2013Clinical Dysmorphology14 citations
Semantic Scholar
Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies
H. Al-Kateb, A. Hahn, J. Gastier-Foster, Linda J. B. Jeng +2 more
2010American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.
Hai-Chen Zhang, Jeffrey W. Kleinberger, Kristin A. Maloney, Yue Guan +20 more
2022Diabetes Care12 citations Open access
Semantic Scholar
KCNQ1 and Long QT Syndrome in 1/45 Amish
E. Streeten, Vincent Y. See, Linda J. B. Jeng, Kristin A. Maloney +17 more
2020Circulation Genomic and Precision Medicine10 citations Open access
Semantic Scholar
Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
Zhong-Xia Qi, Linda J. B. Jeng, A. Slavotinek, Jing-Wei Yu
2015BMC Medical Genomics9 citations Open access
Semantic Scholar
Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2
E. Sanford, K. Bermudez-Wagner, Linda J. B. Jeng, K. Rauen +1 more
2011American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Model-Informed Approach Supporting Approval of Nexviazyme (Avalglucosidase Alfa-ngpt) in Pediatric Patients with Late-Onset Pompe Disease
Ruo-Bing Li, Lian Ma, K. Drozda, Jie Wang +5 more
2023AAPS Journal8 citations
Semantic Scholar
Semantic Search of FDA Guidance Documents Using Generative AI
Scott Proestel, Linda J. B. Jeng, Christopher Smith, M. Deady +3 more
2025Therapeutic Innovation and Regulatory Science5 citations
Semantic Scholar
The Development and Use of Office of New Drugs Custom Medical Queries for Safety Analyses of Clinical Trial Data
Scott Proestel, V. Popat, E. F. Unger, Linda J. B. Jeng
2025Drug Safety5 citations
Semantic Scholar
Surrogate Endpoints in Regulatory Decision‐Making
Linda J. B. Jeng, Jeffrey Siegel
2025Clinical and Translational Science5 citations Open access
Semantic Scholar
Rise of the Central Bank Digital Currencies ∗
Raphael Auer, G. Cornelli, Jon Frost, D. Archer +23 more
20235 citations
Semantic Scholar
Regulatory news: Avalglucosidase alfa‐ngpt (Nexviazyme) for late‐onset Pompe disease—FDA approval summary
Ann Punnoose, Linda J. B. Jeng, Janet W. Maynard
2022Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
Lipodermoid in a patient with Emanuel syndrome.
Tanya S. Glaser, K. Rauen, Linda J. B. Jeng, A. G. de Alba Campomanes
2013Journal of AAPOS5 citations
Semantic Scholar
Dental findings in 14q terminal deletion syndrome.
B. Mendelsohn, Linda J. B. Jeng, S. Oberoi, O. Klein
2014Clinical Dysmorphology4 citations
Semantic Scholar
In vitro functional analyses can aid precision diagnostics of HNF1B-MODY.
Aishwarya Pavithram, Hai-Chen Zhang, Kristin A. Maloney, M. Ringdal +8 more
2024Journal of Molecular Diagnostics3 citations Open access
Semantic Scholar
1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel
Hai-Chen Zhang, Kristin A. Maloney, F. Barbetti, S. Greeley +14 more
20203 citations
Semantic Scholar
Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease
Daniela V. Luquetti, Linda J. B. Jeng, K. Donohue, Janet W. Maynard
2024Journal of Inherited Metabolic Disease2 citations Open access
Semantic Scholar
Characterization of a familial balanced rec(13) in a child with mild MR and his half‐sibling with two structurally rearranged chromosomes 13
S. Mehra, L. Christ, Linda J. B. Jeng, A. Zinn +1 more
2005American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Key Elements of an Effective DeFi Framework
Linda J. B. Jeng, C. R. Lansang, Kristy Lam, S. Lee +1 more
2023Social Science Research Network1 citations
Semantic Scholar
Progress in understanding the genetics of impaired hearing
N. Robin, Linda J. B. Jeng
20021 citations
Semantic Scholar
1638-P: Functional Characterization of HNF1B Variants Can Enhance Diabetes Precision Medicine
B. Johansson, Aishwarya Pavithram, Hai-Chen Zhang, Kristin A. Maloney +8 more
20200 citations
Semantic Scholar
SHARE @ Children's Mercy SHARE @ Children's Mercy
E. Cutting, Meghan Banchero, Amber L. Beitelshees, James J. Cimino +11 more
20200 citations
Semantic Scholar
10-1-2016 User-centered design of multigene sequencing panel reports for clinicians
E. Cutting, Meghan Banchero, Amber L. Beitelshees, J. Cimino +13 more
20180 citations
Semantic Scholar
Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
Zhong-Xia Qi, Linda J. B. Jeng, A. Slavotinek, Jing-Wei Yu
2015BMC Medical Genomics0 citations Open access
Semantic Scholar
2010 Publications - The Biopathology Center
Linda J. B. Jeng, J. Gastier-Foster, D. Thrush, C. Astbury +12 more
20100 citations
Semantic Scholar
BIS Working Papers
Carlos Madeira, Jon Frost, Basit Zafar, Sumit Agarwal +40 more
0 citations
Semantic Scholar

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