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Stephanie Lynn Santoro, M.D.

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Research
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  1. K23HD100568 (SANTORO, STEPHANIE LYNN) Apr 3, 2020 - Mar 31, 2025
    NIH/NICHD
    Developing a Down Syndrome Health Instrument
    Role: Principal Investigator

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. Oreskovic NM, Cottrell C, Torres A, Patsiogiannis V, Santoro S, Nichols D, Moore C, Skotko BG. Physical activity patterns in adults with Down Syndrome. J Appl Res Intellect Disabil. 2020 Jul 13. PMID: 32662165.
    Citations:    
  2. Rosso M, Fremion E, Santoro SL, Oreskovic NM, Chitnis T, Skotko BG, Santoro JD. Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics. 2020 06; 145(6). PMID: 32471843.
    Citations:    
  3. Capone G, Stephens M, Santoro S, Chicoine B, Bulova P, Peterson M, Jasien J, Smith AJ. Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II. Am J Med Genet A. 2020 07; 182(7):1832-1845. PMID: 32338447.
    Citations:    
  4. Poskanzer SA, Hobensack VL, Ciciora SL, Santoro SL. Feeding difficulty and gastrostomy tube placement in infants with Down syndrome. Eur J Pediatr. 2020 Jun; 179(6):909-917. PMID: 31984440.
    Citations:    
  5. Lin AE, Santoro S, High FA, Goldenberg P, Gutmark-Little I. Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):53-63. PMID: 31868316.
    Citations:    
  6. Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG. Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genet Med. 2020 Apr; 22(4):767-776. PMID: 31767984.
    Citations:    
  7. Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS. Response to Zhang et al. Genet Med. 2020 03; 22(3):662. PMID: 31712672.
    Citations:    
  8. Cooper A, Sisco K, Backes CH, Dutro M, Seabrook R, Santoro SL, Cua CL. Usefulness of Postnatal Echocardiography in Patients with Down Syndrome with Normal Fetal Echocardiograms. Pediatr Cardiol. 2019 Dec; 40(8):1716-1721. PMID: 31541264.
    Citations:    
  9. Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS. Detection of iron deficiency in children with Down syndrome. Genet Med. 2020 02; 22(2):317-325. PMID: 31417190.
    Citations:    
  10. Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2020 Mar; 63(3):103735. PMID: 31415821.
    Citations:    
  11. Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, Sticht H, Gregor A, Van Esch H, Zweier C. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019 12; 21(12):2723-2733. PMID: 31239556.
    Citations:    
  12. Rafii MS, Santoro SL. Prevalence and Severity of Alzheimer Disease in Individuals With Down Syndrome. JAMA Neurol. 2019 02 01; 76(2):142-143. PMID: 30452497.
    Citations:    Fields:    
  13. Santoro SL, Bartman T, Cua CL, Lemle S, Skotko BG. Use of Electronic Health Record Integration for Down Syndrome Guidelines. Pediatrics. 2018 09; 142(3). PMID: 30154119.
    Citations:    Fields:    
  14. Duffy V, Gomez D, Rycus P, Rivera B, Santoro SL, Backes CH, Cua CL. Extracorporeal Membrane Oxygenation Characteristics and Outcomes in Adult Patients With Down Syndrome. Artif Organs. 2018 Sep; 42(9):921-925. PMID: 29774549.
    Citations:    Fields:    Translation:Humans
  15. Matthews TJ, Allain DC, Matthews AL, Mitchell A, Santoro SL, Cohen L. An assessment of health, social, communication, and daily living skills of adults with Down syndrome. Am J Med Genet A. 2018 06; 176(6):1389-1397. PMID: 29696786.
    Citations:    Fields:    
  16. Capone GT, Chicoine B, Bulova P, Stephens M, Hart S, Crissman B, Videlefsky A, Myers K, Roizen N, Esbensen A, Peterson M, Santoro S, Woodward J, Martin B, Smith D. Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Am J Med Genet A. 2018 01; 176(1):116-133. PMID: 29130597.
    Citations: 1     Fields:    Translation:Humans
  17. Santoro SL, Jacobson T, Lemle S, Bartman T. Integrating a Geneticist in a Multidisciplinary Clinic for Down Syndrome Increases Commitment to Genetic Counseling. Pediatr Qual Saf. 2017 Sep-Oct; 2(5):e039. PMID: 30229175.
    Citations:    
  18. Santoro SL, Hashimoto S, McKinney A, Mihalic Mosher T, Pyatt R, Reshmi SC, Astbury C, Hickey SE. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy. Cytogenet Genome Res. 2017; 152(2):105-109. PMID: 28746920.
    Citations:    Fields:    Translation:HumansCells
  19. Santoro SL, Atoum D, Hufnagel RB, Motley WW. Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts. SAGE Open Med. 2017; 5:2050312117715583. PMID: 28680631.
    Citations:    
  20. Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 09 01; 99(3):711-719. PMID: 27545680.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  21. Santoro SL, Yin H, Hopkin RJ. Adherence to Symptom-Based Care Guidelines for Down Syndrome. Clin Pediatr (Phila). 2017 Feb; 56(2):150-156. PMID: 27260508.
    Citations:    Fields:    Translation:Humans
  22. Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265. PMID: 27236920.
    Citations: 6     Fields:    Translation:HumansCells
  23. Santoro SL, Esbensen AJ, Hopkin RJ, Hendershot L, Hickey F, Patterson B. Contributions to Racial Disparity in Mortality among Children with Down Syndrome. J Pediatr. 2016 07; 174:240-246.e1. PMID: 27063805.
    Citations:    Fields:    Translation:Humans
  24. Basil JS, Santoro SL, Martin LJ, Healy KW, Chini BA, Saal HM. Retrospective Study of Obesity in Children with Down Syndrome. J Pediatr. 2016 06; 173:143-8. PMID: 26987801.
    Citations: 5     Fields:    Translation:Humans
  25. Santoro SL, Martin LJ, Pleatman SI, Hopkin RJ. Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome. J Pediatr. 2016 Apr; 171:262-8.e1-2. PMID: 26831529.
    Citations: 1     Fields:    Translation:Humans
  26. Santoro SL, Martin LJ, Hopkin RJ. Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences. Clin Pediatr (Phila). 2016 May; 55(5):421-7. PMID: 26084538.
    Citations:    Fields:    Translation:Humans
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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.