Pankaj B. Agrawal

Biochemistry, Genetics and Molecular Biology · Life Sciences

53h-index9.4kcitations318works5.62yr avg
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Research Topics

Genomics and Rare Diseases(80), Genetics and Neurodevelopmental Disorders(49), Genomic variations and chromosomal abnormalities(29), Congenital heart defects research(24), Cardiomyopathy and Myosin Studies(23)

Publications307 total

Effect of anomalous HHH coupling on the decay H → Z Z* →  4 charged leptons
Physics Letters B·2026Open Access
564P Head to head comparison of 18F-PSMA PET/CT and 18F-FDG PET/CT in staging of muscle invasive urinary bladder cancer – a prospective study
Annals of Oncology·2025
Role of next generation sequencing in neonatal diagnosis and screening
Journal of Neuromuscular Diseases·2025Open Access
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis
Frontiers in Immunology·2025Open Access
Integration of MPD and Direct Pressure Measurements to Provide Risk informed Pore Pressure Ranges for Process Safety in Challenging Infill Drilling in Differentially Depleted HPHT Formations of N. Kuwait Jurassic Gas
2025· 1 cited
Notch3 destabilizes regulatory T cells to drive autoimmune neuroinflammation in multiple sclerosis
Immunity·2025· 1 cited
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation
European Journal of Human Genetics·2025· 5 citedOpen Access
Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units
Genetics in Medicine·2025Open Access
Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape
2025Open Access
Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model
Diseases·2025· 1 citedOpen Access
Genetic Testing in the Neonate
Clinics in Perinatology·2025
Effect of anomalous $HHH$ coupling on the decay $H\rightarrow Z\,Z^*\rightarrow$ 4 charged leptons
arXiv (Cornell University)·2025Open Access
Model context protocol: Architectural framework for reducing AI dependency conflicts in financial services
World Journal of Advanced Engineering Technology and Sciences·2025· 1 citedOpen Access
Long-read sequencing is required for precision diagnosis of incontinentia pigmenti
Human Genetics and Genomics Advances·2025Open Access
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome
European Journal of Human Genetics·2025· 1 citedOpen Access
Re-considering wolff chaikoff effect in paediatrics
Endocrine Abstracts·2025
Recurrent primary pituitary abscesses in a young girl: a rare clinical challenge
Endocrine Abstracts·2025
Unique signatures of highly constrained genes across publicly available genomic databases
Genetics in Medicine·2025Open Access
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy
Med·2025Open Access
Author Correction: SPA14 liposomes combining saponin with fully synthetic TLR4 agonist provide adjuvanticity to hCMV vaccine candidate
npj Vaccines·2025Open Access
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Frequent Co-authors

Alan H. Beggs(34), Casie A. Genetti(21), Timothy W. Yu(19), Richard B. Parad(12), Ingrid A. Holm(12), Robert C. Green(11), Ozge Ceyhan‐Birsoy(10), Amy L. McGuire(10), Heidi L. Rehm(10), Talia S. Schwartz(9), Grace E. VanNoy(9), Catherine A. Brownstein(9), Susan E. Waisbren(8), Stacey Pereira(8), Gerard T. Berry(8), Matthew S. Lebo(7), Shawn Fayer(7), Hsiao‐Tuan Chao(7), Kalotina Machini(6), Kurt D. Christensen(6)