Harvard Catalyst Profiles

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Sarah Louise Stenton, Ph.D., M.B.,Ch.B.

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Department
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Biography
University of Birmingham, Birmingham, UKMBChB07/2014Medicine
University of Cambridge, Cambridge, UKMPhil08/2017Clinical Sciences (Rare Disease)
Technical University of Munich, Munich, GermanyPhD09/2021Human Genetics
2022 - 2024
Manton Center Fellowship
2022 - 2023
Thrasher Early Career Award
2022
Dimitris N. Chorafas Award

Overview
Sarah Stenton is a Postdoctoral Research Fellow in the O'Donnell-Luria Lab at the Boston Children's Hospital and Broad Institute of MIT and Harvard. The aims of her research is to identify disease-causing variants in genomic data for the diagnosis of patients with rare diseases. Her current work focuses on identifying mitochondrial DNA variants in seemingly Mendelian disease and variant combinations in undiagnosed patients potentially underlying digenic disease.

Featured Content

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Ban R, Kopajtich R, Lv J, Stenton SL, Shimura M, Wang Z, Yuan Y, Wang J, Han X, Liu Z, Shi Q, Pu C, Prokisch H, Fang F, Elstner M. The phenotypic spectrum of COX20-associated mitochondrial disorder. Brain. 2022 Sep 22. PMID: 36136859.
    Citations:    Fields:    
  2. Stenton SL, Tesarova M, Sheremet NL, Catarino CB, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolárová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain. 2022 06 03; 145(5):1624-1631. PMID: 35148383; PMCID: PMC9166554.
    Citations:    Fields:    Translation:Humans
  3. Drovandi S, Lipska-Zietkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schreuder MF, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Liu C, Sun S, Deng F, Wang X, Clavé S, Stanczyk M, Balasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G, Schaefer F. Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency. Kidney Int. 2022 09; 102(3):604-612. PMID: 35643375.
    Citations:    Fields:    
  4. Drovandi S, Lipska-Zietkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Zietkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stanczyk M, Balasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G, Schaefer F. Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy. Kidney Int. 2022 09; 102(3):592-603. PMID: 35483523.
    Citations: 1     Fields:    
  5. Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med. 2022 04 05; 14(1):38. PMID: 35379322; PMCID: PMC8981716.
    Citations:    Fields:    Translation:HumansCells
  6. Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital. Ann Neurol. 2022 04; 91(4):466-482. PMID: 35094435.
    Citations:    Fields:    Translation:Humans
  7. Alston CL, Stenton SL, Hudson G, Prokisch H, Taylor RW. The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines. J Pathol. 2021 07; 254(4):430-442. PMID: 33586140; PMCID: PMC8600955.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  8. Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 03 15; 131(6). PMID: 33465056; PMCID: PMC7954600.
    Citations: 16     Fields:    Translation:HumansCells
  9. Stenton SL, Zou Y, Cheng H, Prokisch H, Fang F. Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations. Ann Neurol. 2021 03; 89(3):629-631. PMID: 33368573.
    Citations:    Fields:    Translation:Humans
  10. Stenton SL, Piekutowska-Abramczuk D, Kulterer L, Kopajtich R, Claeys KG, Ciara E, Eisen J, Ploski R, Pronicka E, Malczyk K, Wagner M, Wortmann SB, Prokisch H. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum Mutat. 2021 03; 42(3):310-319. PMID: 33348459.
    Citations: 4     Fields:    Translation:Humans
  11. Zhou L, Deng J, Stenton SL, Zhou J, Li H, Chen C, Prokisch H, Fang F. Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency. Front Pharmacol. 2020; 11:608737. PMID: 33364968.
    Citations: 2     
  12. Tan J, Wagner M, Stenton SL, Strom TM, Wortmann SB, Prokisch H, Meitinger T, Oexle K, Klopstock T. Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]. EBioMedicine. 2020 Nov; 61:103072. PMID: 33096486; PMCID: PMC7581886.
    Citations:    Fields:    
  13. Stenton SL, Prokisch H. The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders. Clin Lab Med. 2020 06; 40(2):121-133. PMID: 32439064.
    Citations: 1     Fields:    Translation:Humans
  14. Stenton SL, Prokisch H. Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. EBioMedicine. 2020 Jun; 56:102784. PMID: 32454403; PMCID: PMC7248429.
    Citations: 32     Fields:    Translation:Humans
  15. Tan J, Wagner M, Stenton SL, Strom TM, Wortmann SB, Prokisch H, Meitinger T, Oexle K, Klopstock T. Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. EBioMedicine. 2020 Apr; 54:102730. PMID: 32305867.
    Citations: 10     Fields:    Translation:Humans
  16. Zhou J, Li J, Stenton SL, Ren X, Gong S, Fang F, Prokisch H. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain. 2020 02 01; 143(2):e8. PMID: 31755961.
    Citations: 5     Fields:    Translation:Humans
  17. Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Brain. 2019 12 01; 142(12):3876-3891. PMID: 31688942.
    Citations: 8     Fields:    Translation:HumansCells
  18. Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H. The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics. J Inherit Metab Dis. 2020 01; 43(1):25-35. PMID: 31119744.
    Citations: 11     Fields:    Translation:HumansCells
  19. Stenton SL, Prokisch H. Advancing genomic approaches to the molecular diagnosis of mitochondrial disease. Essays Biochem. 2018 07 20; 62(3):399-408. PMID: 29950319.
    Citations: 23     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.