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Author

Mariya Shadrina

ORCID: 0000-0001-5962-0771
Observed ORCID: 0000-0001-5962-0771
OpenAlex ID: A5027040934
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis
2021 · Amy R. Kontorovich, Yingying Tang, et al. · Circulation Genomic and Precision Medicine · 26
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A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
2024 · Celine A. Manigbas, Bharati Jadhav, et al. · Nature Communications · 19
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
2025 · Isabelle B. Cooperstein, Shruti Marwaha, et al. · Genome Medicine · 17
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A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
2024 · Bharati Jadhav, Paras Garg, et al. · Nature Genetics · 15
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Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes
2023 · Madeline M. Lui, Mariya Shadrina, et al. · Circulation Genomic and Precision Medicine · 10
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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
2025 · Shilpa Nadimpalli Kobren, Mikhail A. Moldovan, et al. · Nature Communications · 8
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A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability
2023 · Bharati Jadhav, Paras Garg, et al. · medRxiv · 6
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Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
2026 · Laura A. Keehan, Hitomi Ono-Minagi, et al. · Genetics in Medicine · 4
IgG Propels Atherosclerosis by Noncanonically Activating Macrophages
2026 · Tarik Zahr, Kai Zhang, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2
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Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach
2024 · Mariya Shadrina, Özem Kalay, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2
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Efficient identification of de novo mutations in family trios: a consensus-based informatic approach
2025 · Mariya Shadrina, Özem Kalay, et al. · Life Science Alliance · 1
Tandem repeat expansions in DAPK1 , ANK3 , and RPL14 are associated with diverse neurodegenerative diseases
2026 · Gabrielle N. Altman, Bharati Jadhav, et al. · medRxiv
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“It didn’t feel like anything unusual because we had already been through so much”: Disability-related research experiences of families with children enrolled in the undiagnosed diseases network
2026 · Kevin T. Mintz, Elisa N. Altamirano, et al. · Genetics in Medicine
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A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank
2026 · Paras Garg, Bharati Jadhav, et al. · The American Journal of Human Genetics
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Integrative Omics Identifies Candidate Plasma Biomarkers and Cellular Targets Associated with Thoracic Aortic Aneurysm
2025 · Alexander C. Bashore, Emir Radkevich, et al. · bioRxiv (Cold Spring Harbor Laboratory)
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Genetic Risk, Exposure to Pregnancy, and Lifetime Risk of Heart Failure: a Genotype-first Approach
2025 · Bethany Dubois, Natasha Qureshi, et al. · Journal of the American College of Cardiology
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Genetic variation of tandem repeats as a cause of Alzheimer’s Disease
2024 · Alejandro Martin Trujillo, Bharati Jadhav, et al. · Alzheimer s & Dementia
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Works count: 17
Citation count: 109
H-index: 6
I10-index: 5
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