Sarah Louise Stenton

@childrenshospital.org

Postdoctoral Fellow, Division of Genetics and Genomics
Boston Children’s Hospital

Sarah Louise Stenton


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https://researchid.co/sstenton

RESEARCH, TEACHING, or OTHER INTERESTS

Biochemistry, Genetics and Molecular Biology
2343

Scholar Citations

24

Scholar h-index

36

Scholar i10-index

RECENT SCHOLAR PUBLICATIONS

  • Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
    E Leitão, A Santini, B Cogne, M Essid, M Athanasiadou, CW LaFlamme, ...
    Nature genetics, 1-16 , 2026
    2026
    Citations: 10
  • Ancestry-specific performance of variant effect predictors in clinical variant classification
    R Hoffing, D Zeiberg, SL Stenton, M Mort, DN Cooper, MW Hahn, ...
    bioRxiv, 2026.02. 14.705914 , 2026
    2026
    Citations: 1
  • Improving variant classification through data aggregation and calibration
    A O’Donnell-Luria, D Zeiberg, H Abderrazzaq, V Pejaver, SL Stenton, ...
    Pathology 58, S50 , 2026
    2026
  • O61: Improving variant classification for genomic medicine through evidence calibration
    A O'Donnell-Luria, D Zeiberg, H Abderrazzaq, V Pejaver, S Stenton, ...
    Genetics in Medicine Open 4 , 2026
    2026
  • Pleiotropic effects of MORC2 derive from its epigenetic signature
    F Peymani, T Ebihara, D Smirnov, R Kopajtich, M Ando, E Bertini, ...
    Brain 149 (1), 163-177 , 2026
    2026
    Citations: 4
  • Digenic inheritance as a causative mechanism of skeletal myopathy
    A Topf, D Cox, I Zaharieva, V Di Leo, J Sarparanta, PH Jonson, I Sealby, ...
    Journal of the Neurological Sciences 480 , 2025
    2025
  • Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (Award Candidate)
    A Santini, B Cogne, E Leitao, F Lecoquierre, Y Chen, S Stenton, ...
    EUROPEAN JOURNAL OF HUMAN GENETICS 33, 45-46 , 2025
    2025
  • Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
    S Gudmundsson, M Singer-Berk, SL Stenton, JK Goodrich, MW Wilson, ...
    Nature Communications 16 (1), 9623 , 2025
    2025
    Citations: 25
  • 440PNeuromuscular phenotype of three patients with biallelic variants in the RFC4 gene
    J Mueller, A Sarkozy, R Phadke, S Rabinowicz, A Manzur, A Dixit, I Scott, ...
    Neuromuscular Disorders 53, 105763 , 2025
    2025
  • Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
    SL Stenton, K Laricchia, NJ Lake, S Chaluvadi, V Ganesh, S DiTroia, ...
    Human Genetics and Genomics Advances 6 (3) , 2025
    2025
    Citations: 6
  • Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
    C Nava, B Cogne, A Santini, E Leitão, F Lecoquierre, Y Chen, SL Stenton, ...
    Nature Genetics 57 (6), 1374-1388 , 2025
    2025
    Citations: 43
  • Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
    T Bergquist, SL Stenton, EAW Nadeau, AB Byrne, MS Greenblatt, ...
    Genetics in Medicine 27 (6), 101402 , 2025
    2025
    Citations: 65
  • Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL
    E Carbonell, SL Stenton, VS Ganesh, J Ma, GE VanNoy, L Pais, ...
    Human Genetics and Genomics Advances 6 (2) , 2025
    2025
    Citations: 1
  • Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
    S Negi, SL Stenton, SI Berger, P Canigiula, B McNulty, I Violich, J Gardner, ...
    The American Journal of Human Genetics 112 (2), 428-449 , 2025
    2025
    Citations: 51
  • Unravelling Mitochondrial Diseases Metabolism: Discovery and Validation of Biomarkers in the Largest Patient Cohort Study to Date
    D Smirnov, C Lamperti, S Stenton, S Marchet, D Ghezzi, R Artuch, ...
    EUROPEAN JOURNAL OF HUMAN GENETICS 32, 885-885 , 2024
    2024
  • Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
    SL Stenton, V Pejaver, T Bergquist, LG Biesecker, AB Byrne, ...
    Genetics in Medicine 26 (11), 101213 , 2024
    2024
    Citations: 21
  • Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
    JX Chong, SI Berger, S Baxter, E Smith, C Xiao, DG Calame, MH Hawley, ...
    Genetics in Medicine 26 (10), 101199 , 2024
    2024
    Citations: 17
  • De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
    Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton, S Walker, J Lord, ...
    Nature 632 (8026), 832-840 , 2024
    2024
    Citations: 131
  • Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
    E Indelicato, LD Schlieben, SL Stenton, S Boesch, M Skorvanek, J Necpal, ...
    Journal of Neurology 271 (7), 4685-4692 , 2024
    2024
    Citations: 8
  • Genome sequencing for diagnosing rare diseases
    MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ...
    New England Journal of Medicine 390 (21), 1985-1997 , 2024
    2024
    Citations: 200

MOST CITED SCHOLAR PUBLICATIONS

  • Genetics of mitochondrial diseases: Identifying mutations to help diagnosis
    SL Stenton, H Prokisch
    EBioMedicine 56 , 2020
    2020
    Citations: 291
  • Clinical implementation of RNA sequencing for Mendelian disease diagnostics
    VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ...
    Genome medicine 14 (1), 38 , 2022
    2022
    Citations: 215
  • Genome sequencing for diagnosing rare diseases
    MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ...
    New England Journal of Medicine 390 (21), 1985-1997 , 2024
    2024
    Citations: 200
  • Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
    SL Stenton, NL Sheremet, CB Catarino, NA Andreeva, Z Assouline, ...
    The Journal of clinical investigation 131 (6) , 2021
    2021
    Citations: 167
  • Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
    MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
    The American Journal of Human Genetics 110 (8), 1229-1248 , 2023
    2023
    Citations: 138
  • De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
    Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton, S Walker, J Lord, ...
    Nature 632 (8026), 832-840 , 2024
    2024
    Citations: 131
  • The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics
    SL Stenton, LS Kremer, R Kopajtich, C Ludwig, H Prokisch
    Journal of inherited metabolic disease 43 (1), 25-35 , 2020
    2020
    Citations: 99
  • The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines
    CL Alston, SL Stenton, G Hudson, H Prokisch, RW Taylor
    The Journal of pathology 254 (4), 430-442 , 2021
    2021
    Citations: 78
  • Advancing genomic approaches to the molecular diagnosis of mitochondrial disease
    SL Stenton, H Prokisch
    Essays in Biochemistry 62 (3), 399-408 , 2018
    2018
    Citations: 78
  • Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases
    J Tan, M Wagner, SL Stenton, TM Strom, SB Wortmann, H Prokisch, ...
    EBioMedicine 54 , 2020
    2020
    Citations: 76
  • Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency
    S Drovandi, BS Lipska-Ziętkiewicz, F Ozaltin, F Emma, B Gulhan, O Boyer, ...
    Kidney international 102 (3), 604-612 , 2022
    2022
    Citations: 72
  • Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
    T Bergquist, SL Stenton, EAW Nadeau, AB Byrne, MS Greenblatt, ...
    Genetics in Medicine 27 (6), 101402 , 2025
    2025
    Citations: 65
  • Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
    S Drovandi, BS Lipska-Ziętkiewicz, F Ozaltin, F Emma, B Gulhan, O Boyer, ...
    Kidney international 102 (3), 592-603 , 2022
    2022
    Citations: 54
  • Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
    S Negi, SL Stenton, SI Berger, P Canigiula, B McNulty, I Violich, J Gardner, ...
    The American Journal of Human Genetics 112 (2), 428-449 , 2025
    2025
    Citations: 51
  • DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
    SL Stenton, M Tesarova, NL Sheremet, CB Catarino, V Carelli, E Ciara, ...
    Brain 145 (5), 1624-1631 , 2022
    2022
    Citations: 48
  • Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
    R Kopajtich, D Smirnov, SL Stenton, S Loipfinger, C Meng, IF Scheller, ...
    MedRxiv, 2021.03. 09.21253187 , 2021
    2021
    Citations: 48
  • Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
    A Esposito, A Falace, M Wagner, M Gal, D Mei, V Conti, T Pisano, D Aprile, ...
    Brain 142 (12), 3876-3891 , 2019
    2019
    Citations: 47
  • Leigh syndrome: a study of 209 patients at the Beijing Children's hospital
    SL Stenton, Y Zou, H Cheng, Z Liu, J Wang, D Shen, H Jin, C Ding, ...
    Annals of neurology 91 (4), 466-482 , 2022
    2022
    Citations: 44
  • Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
    C Nava, B Cogne, A Santini, E Leitão, F Lecoquierre, Y Chen, SL Stenton, ...
    Nature Genetics 57 (6), 1374-1388 , 2025
    2025
    Citations: 43
  • Inferring compound heterozygosity from large-scale exome sequencing data
    MH Guo, LC Francioli, SL Stenton, JK Goodrich, NA Watts, M Singer-Berk, ...
    Nature genetics 56 (1), 152-161 , 2024
    2024
    Citations: 37