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Stephanie Lynn Santoro, M.D.

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Overview
As a pediatrician-trained clinical geneticist, Dr. Santoro has devoted her career to the health of individuals with genetic syndromes. Down syndrome is her primary genetic syndrome of focus and area of clinical expertise to which she is passionately dedicated. She is the Director of Quality Improvement Research at the Massachusetts General Hospital Down Syndrome Program. She has specialized in quality improvement approaches and increasing adherence to guidelines for medical care in Down syndrome. She is a K23 awardee and is funded to develop a novel instrument to measure health in Down syndrome. She is a graduate of the University of Cincinnati, the University of Cincinnati College of Medicine, and completed a combined pediatrics-medical genetics residency at Cincinnati Children's Hospital Medical Center. She serves on the Medical and Scientific Advisory Committee of the Massachusetts Down Syndrome Congress, the Board of Directors of the Down Syndrome Medical Interest Group, and the Executive Committee of the American Academy of Pediatrics Council on Genetics.

Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. K23HD100568 (SANTORO, STEPHANIE LYNN) Apr 3, 2020 - Mar 31, 2025
    NIH
    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. Santoro SL, Cabrera MJ, Co JPT, Constantine M, Haugen K, Krell K, Skotko BG, Winickoff JP, Donelan K. Health in Down syndrome: creating a conceptual model. J Intellect Disabil Res. 2023 Jan 17. PMID: 36650105.
    Citations:    Fields:    
  2. Santoro SL, Cabrera MJ, Haugen K, Krell K, Merker VL. Indicators of health in Down syndrome: A virtual focus group study with patients and their parents. J Appl Res Intellect Disabil. 2023 Jan 09. PMID: 36624557.
    Citations:    Fields:    
  3. Santoro SL, Baumer NT, Cornacchia M, Franklin C, Hart SJ, Haugen K, Hojlo MA, Horick N, Kishnani PS, Krell K, McCormick A, Milliken AL, Oreskovic NM, Pawlowski KG, Sargado S, Torres A, Valentini D, Vellody K, Skotko BG. Response to Letter to the Editor by Palffy and Ghaziuddin. Am J Med Genet A. 2023 Jan 06. PMID: 36609854.
    Citations:    Fields:    
  4. Oreskovic NM, Baumer NT, Di Camillo C, Cornachia M, Franklin C, Hart SJ, Kishnani PS, McCormick A, Milliken AL, Patsiogiannis V, Pawlowski KG, Santoro SL, Sargado S, Scoppola V, Torres A, Valentini D, Vellody K, Villani A, Skotko BG. Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. Am J Med Genet A. 2022 Dec 20. PMID: 36538912.
    Citations:    Fields:    
  5. Raffaele G, Blout Zawatsky CL, Cottrell C, Santoro SL. Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history. Am J Med Genet A. 2022 Nov; 188(11):3162-3171. PMID: 36150133.
    Citations:    Fields:    Translation:Humans
  6. Santoro SL, Baumer NT, Cornacchia M, Franklin C, Hart SJ, Haugen K, Hojlo MA, Horick N, Kishnani PS, Krell K, McCormick A, Milliken AL, Oreskovic NM, Pawlowski KG, Sargado S, Torres A, Valentini D, Vellody K, Skotko BG. Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. Am J Med Genet A. 2022 Oct; 188(10):3049-3062. PMID: 35924793.
    Citations:    Fields:    Translation:Humans
  7. Santoro JD, Patel L, Kammeyer R, Filipink RA, Gombolay GY, Cardinale KM, Real de Asua D, Zaman S, Santoro SL, Marzouk SM, Khoshnood M, Vogel BN, Tanna R, Pagarkar D, Dhanani S, Ortega MDC, Partridge R, Stanley MA, Sanders JS, Christy A, Sannar EM, Brown R, McCormick AA, Van Mater H, Franklin C, Worley G, Quinn EA, Capone GT, Chicoine B, Skotko BG, Rafii MS. Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Front Neurol. 2022; 13:940175. PMID: 35911905; PMCID: PMC9335003.
    Citations:    
  8. Cabrera MJ, Haugen K, Krell K, Torres A, Santoro SL. Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome. Eur J Med Genet. 2022 Aug; 65(8):104550. PMID: 35750159.
    Citations:    Fields:    Translation:Humans
  9. Santoro SL, Donelan K, Constantine M. Proxy-report in individuals with intellectual disability: A scoping review. J Appl Res Intellect Disabil. 2022 Sep; 35(5):1088-1108. PMID: 35676858; PMCID: PMC9378492.
    Citations:    Fields:    
  10. Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW, Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 05 01; 149(5). PMID: 35490285.
    Citations:    Fields:    Translation:Humans
  11. Santoro SL, Hendrix J, White N, Chandan P. Caregivers evaluate independence in individuals with Down syndrome. Am J Med Genet A. 2022 05; 188(5):1526-1537. PMID: 35119195.
    Citations:    Fields:    Translation:Humans
  12. Oreskovic NM, Agiovlasitis S, Patsiogiannis V, Santoro SL, Nichols D, Skotko BG. Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome. J Appl Res Intellect Disabil. 2022 May; 35(3):910-915. PMID: 35106891.
    Citations:    Fields:    Translation:Humans
  13. Steffensen EH, Rosvig LH, Santoro S, Pedersen LH, Vogel I, Lou S. Parenting a child with Down syndrome: A qualitative study of everyday practices in Danish families. J Genet Couns. 2022 06; 31(3):758-770. PMID: 34939262.
    Citations:    Fields:    Translation:Humans
  14. Santoro SL, Peters MLB. K Awards: The Journey of a Thousand Steps. Ann Intern Med. 2021 12; 174(12):1735-1737. PMID: 34781710; PMCID: PMC8778964.
    Citations:    Fields:    Translation:Humans
  15. Santoro SL, Brenner-Miller D, Cottrell C, Bress J, Torres A, Skotko BG. Using a Communication Passport within a Multidisciplinary Genetics Clinic. Pediatr Qual Saf. 2021 Sep-Oct; 6(5):e472. PMID: 34589646; PMCID: PMC8476060.
    Citations:    
  16. Krell K, Haugen K, Torres A, Santoro SL. Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic. Brain Sci. 2021 Jul 30; 11(8). PMID: 34439631.
    Citations: 1     
  17. Lehman A, Leach M, Santoro SL. Delivering a new diagnosis of Down syndrome: Parent experience. Am J Med Genet A. 2021 12; 185(12):3615-3622. PMID: 34196452.
    Citations:    Fields:    Translation:Humans
  18. Blake JM, Estrada Gomez D, Skotko BG, Torres A, Santoro SL. Pneumonia and respiratory infection in Down syndrome: A 10-year cohort analysis of inpatient and outpatient encounters across the lifespan. Am J Med Genet A. 2021 10; 185(10):2878-2887. PMID: 34056836.
    Citations:    Fields:    Translation:Humans
  19. Hendrix JA, Airey DC, Britton A, Burke AD, Capone GT, Chavez R, Chen J, Chicoine B, Costa ACS, Dage JL, Doran E, Esbensen A, Evans CL, Faber KM, Foroud TM, Hart S, Haugen K, Head E, Hendrix S, Hillerstrom H, Kishnani PS, Krell K, Ledesma DL, Lai F, Lott I, Ochoa-Lubinoff C, Mason J, Nicodemus-Johnson J, Proctor NK, Pulsifer MB, Revta C, Rosas HD, Rosser TC, Santoro S, Schafer K, Scheidemantel T, Schmitt F, Skotko BG, Stasko MR, Talboy A, Torres A, Wilmes K, Woodward J, Zimmer JA, Feldman HH, Mobley W. Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study. J Clin Med. 2021 Apr 28; 10(9). PMID: 33924960; PMCID: PMC8124643.
    Citations: 4     
  20. Hendrix JA, Amon A, Abbeduto L, Agiovlasitis S, Alsaied T, Anderson HA, Bain LJ, Baumer N, Bhattacharyya A, Bogunovic D, Botteron KN, Capone G, Chandan P, Chase I, Chicoine B, Cieuta-Walti C, DeRuisseau LR, Durand S, Esbensen A, Fortea J, Giménez S, Granholm AC, Hahn LJ, Head E, Hillerstrom H, Jacola LM, Janicki MP, Jasien JM, Kamer AR, Kent RD, Khor B, Lawrence JB, Lemonnier C, Lewanda AF, Mobley W, Moore PE, Nelson LP, Oreskovic NM, Osorio RS, Patterson D, Rasmussen SA, Reeves RH, Roizen N, Santoro S, Sherman SL, Talib N, Tapia IE, Walsh KM, Warren SF, White AN, Wong GW, Yi JS. Opportunities, barriers, and recommendations in down syndrome research. Transl Sci Rare Dis. 2021; 5(3-4):99-129. PMID: 34268067; PMCID: PMC8279178.
    Citations: 7     
  21. Santoro SL, Campbell A, Cottrell C, Donelan K, Majewski B, Oreskovic NM, Patsiogiannis V, Torres A, Skotko BG. Piloting the use of global health measures in a Down syndrome clinic. J Appl Res Intellect Disabil. 2021 Jul; 34(4):1108-1117. PMID: 33759305; PMCID: PMC8830489.
    Citations: 2     Fields:    Translation:Humans
  22. Santoro SL, Campbell A, Balasubramanian A, Haugen K, Schafer K, Mobley W. Specialty clinics for adults with Down syndrome: A clinic survey. Am J Med Genet A. 2021 06; 185(6):1767-1775. PMID: 33729670.
    Citations: 1     Fields:    Translation:Humans
  23. Chung J, Donelan K, Macklin EA, Schwartz A, Elsharkawi I, Torres A, Hsieh YG, Parker H, Lorenz S, Patsiogiannis V, Santoro SL, Wylie M, Clarke L, Estey G, Baker S, Bauer PE, Bull M, Chicoine B, Cullen S, Frey-Vogel A, Gallagher M, Hasan R, Lamb A, Majewski L, Mast J, Riddell T, Sepucha K, Skavlem M, Skotko BG. Correction: A randomized controlled trial of an online health tool about Down syndrome. Genet Med. 2021 Jan; 23(1):236. PMID: 33169000.
    Citations:    Fields:    
  24. Santoro SL, Donelan K, Haugen K, Oreskovic NM, Torres A, Skotko BG. Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome. Am J Med Genet C Semin Med Genet. 2021 03; 187(1):70-82. PMID: 33385186.
    Citations: 6     Fields:    Translation:Humans
  25. Santoro SL, Chicoine B, Jasien JM, Kim JL, Stephens M, Bulova P, Capone G. Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature. Am J Med Genet A. 2021 01; 185(1):286-299. PMID: 33073471.
    Citations: 8     Fields:    Translation:HumansCellsPHPublic Health
  26. Chung J, Donelan K, Macklin EA, Schwartz A, Elsharkawi I, Torres A, Hsieh YG, Parker H, Lorenz S, Patsiogiannis V, Santoro SL, Wylie M, Clarke L, Estey G, Baker S, Bauer PE, Bull M, Chicoine B, Cullen S, Frey-Vogel A, Gallagher M, Hasan R, Lamb A, Majewski L, Mast J, Riddell T, Sepucha K, Skavlem M, Skotko BG. A randomized controlled trial of an online health tool about Down syndrome. Genet Med. 2021 01; 23(1):163-173. PMID: 32879436.
    Citations: 5     Fields:    Translation:Humans
  27. Hickey SE, Kellogg B, O'Brien M, Hall C, Kirschner RE, Santoro SL, Leonard H, Baylis AL. Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome. Cleft Palate Craniofac J. 2020 12; 57(12):1362-1369. PMID: 32787583.
    Citations: 2     Fields:    Translation:Humans
  28. 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 Nov; 33(6):1457-1464. PMID: 32662165.
    Citations: 3     Fields:    Translation:Humans
  29. 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: 6     Fields:    Translation:Humans
  30. 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: 7     Fields:    Translation:HumansPHPublic Health
  31. 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: 1     Fields:    Translation:Humans
  32. 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: 3     Fields:    Translation:Humans
  33. Cagiltay E, Celik A, Dixon JB, Pouwels S, Santoro S, Gupta A, Ugale S, Abdul-Ghani M. Effects of different metabolic states and surgical models on glucose metabolism and secretion of ileal L-cell peptides: results from the HIPER-1 study. Diabet Med. 2020 04; 37(4):697-704. PMID: 31773794.
    Citations: 1     Fields:    Translation:HumansAnimals
  34. 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 04; 22(4):767-776. PMID: 31767984.
    Citations: 5     Fields:    Translation:Humans
  35. 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:    Fields:    Translation:Humans
  36. 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:    Fields:    Translation:Humans
  37. 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; PMCID: PMC8039980.
    Citations:    Fields:    Translation:HumansCellsPHPublic Health
  38. 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: 3     Fields:    Translation:Humans
  39. 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; PMCID: PMC6892744.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  40. 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: 7     Fields:    Translation:Humans
  41. 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: 8     Fields:    Translation:Humans
  42. 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
  43. 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: 2     Fields:    Translation:Humans
  44. 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: 36     Fields:    Translation:Humans
  45. 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; PMCID: PMC6132463.
    Citations:    
  46. 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: 4     Fields:    Translation:HumansCells
  47. 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; PMCID: PMC5480628.
    Citations: 1     
  48. Cua CL, Haque U, Santoro S, Nicholson L, Backes CH. Differences in mortality characteristics in neonates with Down's syndrome. J Perinatol. 2017 04; 37(4):465. PMID: 28400612.
    Citations:    Fields:    
  49. Cua CL, Haque U, Santoro S, Nicholson L, Backes CH. Differences in mortality characteristics in neonates with Down's syndrome. J Perinatol. 2017 04; 37(4):427-431. PMID: 28079865.
    Citations: 2     Fields:    Translation:Humans
  50. 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; PMCID: PMC5011044.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  51. 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: 4     Fields:    Translation:Humans
  52. 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; PMCID: PMC4908219.
    Citations: 35     Fields:    Translation:HumansCells
  53. 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: 1     Fields:    Translation:Humans
  54. 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: 23     Fields:    Translation:Humans
  55. 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: 6     Fields:    Translation:Humans
  56. 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: 1     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.