Stephanie L Santoro (Stephanie Santoro, S L Santoro)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 46

Top Topics

African American

Cross Sectional

Top Venues

American journal of medical genetics. Part A

Journal of applied research in intellectual disabilities : JARID

American journal of medical genetics. Part C, Seminars in medical genetics

Journal of intellectual disability research : JIDR

This page only lists publications with an associated author ORCID identifier.

Publications

Ayesha Harisinghani, Clorinda Cottrell, Karen Donelan, Alice D Lam, Margaret Pulsifer, Stephanie L Santoro
Practicalities (and real-life experiences) of dementia in adults with Down syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Jordan C Wood, Perman Gochyyev, Stephanie L Santoro
Adherence to adult clinical practice guidelines for Down syndrome. American journal of medical genetics. Part A (2024)
Stephanie L Santoro
Down syndrome across the lifespan. American journal of medical genetics. Part C, Seminars in medical genetics 193 (4) (2024)
Stephanie L Santoro
Down syndrome across the lifespan. American journal of medical genetics. Part C, Seminars in medical genetics 193 (4) (2024)
Ellen Hollands Steffensen, Stephanie L Santoro, Lars H Pedersen, Ida Vogel, Stina Lou
Encounters with public and professional understandings of Down syndrome: A qualitative study of parents' experiences. Journal of applied research in intellectual disabilities : JARID 37 (3) (2024)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR (2023)
Stephanie L Santoro, Carolyn H Baloh, Sarah J Hart, Nora Horick, Priya S Kishnani, Kavita Krell, Nicolas Michel Oreskovic, Mikayla Shaffer, Nasreen Talib, Amy Torres, Gail A Spiridigliozzi, Brian G Skotko
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Shri Karri, Ayesha Harisinghani, Clorinda Cottrell, Stephanie L Santoro
The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Stephanie L Santoro, Nicole T Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J Hart, Kelsey Haugen, Margaret A Hojlo, Nora Horick, Priya S Kishnani, Kavita Krell, Andrew McCormick, Anna L Milliken, Nicolas Michel Oreskovic, Katherine G Pawlowski, Sabrina Sargado, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G Skotko
Response to Letter to the Editor by Palffy and Ghaziuddin. American journal of medical genetics. Part A (2023)
Stephanie L Santoro, Maria J Cabrera, Kelsey Haugen, Kavita Krell, Vanessa L Merker
Indicators of health in Down syndrome: A virtual focus group study with patients and their parents. Journal of applied research in intellectual disabilities : JARID (2023)
Stephanie L Santoro, Maria J Cabrera, Kelsey Haugen, Kavita Krell, Vanessa L Merker
Indicators of health in Down syndrome: A virtual focus group study with patients and their parents. Journal of applied research in intellectual disabilities : JARID (2023)
Stephanie L Santoro, Maria J Cabrera, Kelsey Haugen, Kavita Krell, Vanessa L Merker
Indicators of health in Down syndrome: A virtual focus group study with patients and their parents. Journal of applied research in intellectual disabilities : JARID 36 (2) (2023)
Stephanie L Santoro, Maria J Cabrera, Kelsey Haugen, Kavita Krell, Vanessa L Merker
Indicators of health in Down syndrome: A virtual focus group study with patients and their parents. Journal of applied research in intellectual disabilities : JARID 36 (2) (2023)
Elsie O Ansong, Kari Jones, Stephanie L Santoro
Timing of Referrals to a Down Syndrome Parent Group by Race. Pediatric quality & safety 8 (1) (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR 67 (4) (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR 67 (4) (2023)
Stephanie L Santoro, Kelsey Haugen, Karen Donelan, Brian G Skotko
Global health measures from a National Down Syndrome Registry. American journal of medical genetics. Part A (2023)
Stephanie L Santoro, Sandra Baker, Jasmine M Blake, Maria J Cabrera, Kelli Caughman, Jeanhee Chung, Sarah Cullen, Maureen Gallagher, Kelsey Haugen, Roxanne Hoke-Chandler, Kavita Krell, Julius Maina, Diana McLuckie, Vanessa L Merker, Carie Michael, Kate O'Neill, Angeles Peña, Albert Pless, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Amy Torres, Carlos G Torres, Brian G Skotko
Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds. American journal of medical genetics. Part A (2023)
Jennifer Jett, Alexander Fossi, Heather Blonsky, Wendy Ross, Sabra Townsend, Mary M Stephens, Brian Chicoine, Stephanie L Santoro
Retrospective review of the code status of individuals with Down syndrome during the COVID-19 era. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR (2023)
Elsie O Ansong, Kari Jones, Stephanie L Santoro
Timing of Referrals to a Down Syndrome Parent Group by Race. Pediatric quality & safety 8 (1) (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR 67 (4) (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR 67 (4) (2023)
Stephanie L Santoro, Maria J Cabrera, Kelsey Haugen, Kavita Krell, Vanessa L Merker
Indicators of health in Down syndrome: A virtual focus group study with patients and their parents. Journal of applied research in intellectual disabilities : JARID 36 (2) (2023)
Ayesha Harisinghani, Gabriella Raffaele, Carrie Blout Zawatsky, Stephanie L Santoro
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Nicolas Michel Oreskovic, Nicole T Baumer, Chiara Di Camillo, Michelle Cornachia, Catherine Franklin, Sarah J Hart, Priya S Kishnani, Andrew McCormick, Anna L Milliken, Vasiliki Patsiogiannis, Katherine G Pawlowski, Stephanie L Santoro, Sabrina Sargado, Vittorio Scoppola, Amy Torres, Diletta Valentini, Kishore Vellody, Alberto Villani, Brian G Skotko
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. American journal of medical genetics. Part A (2022)
Nicolas Michel Oreskovic, Stamatis Agiovlasitis, Vasiliki Patsiogiannis, Stephanie L Santoro, Dominica Nichols, Brian G Skotko
Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome. Journal of applied research in intellectual disabilities : JARID 35 (3) (2022)
Stephanie L Santoro, James Hendrix, Nicole White, Priya Chandan
Caregivers evaluate independence in individuals with Down syndrome. American journal of medical genetics. Part A 188 (5) (2022)
Gabriella Raffaele, Carrie L Blout Zawatsky, Clorinda Cottrell, Stephanie L Santoro
Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history. American journal of medical genetics. Part A 188 (11) (2022)
Nicolas Michel Oreskovic, Nicole T Baumer, Chiara Di Camillo, Michelle Cornachia, Catherine Franklin, Sarah J Hart, Priya S Kishnani, Andrew McCormick, Anna L Milliken, Vasiliki Patsiogiannis, Katherine G Pawlowski, Stephanie L Santoro, Sabrina Sargado, Vittorio Scoppola, Amy Torres, Diletta Valentini, Kishore Vellody, Alberto Villani, Brian G Skotko
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. American journal of medical genetics. Part A 191 (3) (2022)
Stephanie L Santoro, Karen Donelan, Melissa Constantine
Proxy-report in individuals with intellectual disability: A scoping review. Journal of applied research in intellectual disabilities : JARID 35 (5) (2022)
Nicolas Michel Oreskovic, Nicole T Baumer, Chiara Di Camillo, Michelle Cornachia, Catherine Franklin, Sarah J Hart, Priya S Kishnani, Andrew McCormick, Anna L Milliken, Vasiliki Patsiogiannis, Katherine G Pawlowski, Stephanie L Santoro, Sabrina Sargado, Vittorio Scoppola, Amy Torres, Diletta Valentini, Kishore Vellody, Alberto Villani, Brian G Skotko
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. American journal of medical genetics. Part A 191 (3) (2022)
Nicolas Michel Oreskovic, Nicole T Baumer, Chiara Di Camillo, Michelle Cornachia, Catherine Franklin, Sarah J Hart, Priya S Kishnani, Andrew McCormick, Anna L Milliken, Vasiliki Patsiogiannis, Katherine G Pawlowski, Stephanie L Santoro, Sabrina Sargado, Vittorio Scoppola, Amy Torres, Diletta Valentini, Kishore Vellody, Alberto Villani, Brian G Skotko
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. American journal of medical genetics. Part A 191 (3) (2022)
Stephanie L Santoro, Nicole T Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J Hart, Kelsey Haugen, Margaret A Hojlo, Nora Horick, Priya S Kishnani, Kavita Krell, Andrew McCormick, Anna L Milliken, Nicolas M Oreskovic, Katherine G Pawlowski, Sabrina Sargado, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G Skotko
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. American journal of medical genetics. Part A 188 (10) (2022)
Kavita Krell, Kelsey Haugen, Amy Torres, Stephanie L Santoro
Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic. Brain sciences 11 (8) (2021)
Jasmine M Blake, Daniela Estrada Gomez, Brian G Skotko, Amy Torres, Stephanie L Santoro
Pneumonia and respiratory infection in Down syndrome: A 10-year cohort analysis of inpatient and outpatient encounters across the lifespan. American journal of medical genetics. Part A 185 (10) (2021)
April Lehman, Mark Leach, Stephanie L Santoro
Delivering a new diagnosis of Down syndrome: Parent experience. American journal of medical genetics. Part A 185 (12) (2021)
Stephanie L Santoro, Ashlee Campbell, Archana Balasubramanian, Kelsey Haugen, Kimberly Schafer, William Mobley
Specialty clinics for adults with Down syndrome: A clinic survey. American journal of medical genetics. Part A 185 (6) (2021)
Stephanie L Santoro, Ashlee Campbell, Clorinda Cottrell, Karen Donelan, Ben Majewski, Nicolas Michel Oreskovic, Vasiliki Patsiogiannis, Amy Torres, Brian G Skotko
Piloting the use of global health measures in a Down syndrome clinic. Journal of applied research in intellectual disabilities : JARID 34 (4) (2021)
Stephanie L Santoro, Karen Donelan, Kelsey Haugen, Nicolas M Oreskovic, Amy Torres, Brian G Skotko
Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 187 (1) (2021)
Nicolas Michel Oreskovic, Clorinda Cottrell, Amy Torres, Vasiliki Patsiogiannis, Stephanie L Santoro, Dominica Nichols, Cynthia Moore, Brian G Skotko
Physical activity patterns in adults with Down Syndrome. Journal of applied research in intellectual disabilities : JARID 33 (6) (2020)
George T Capone, Mary Stephens, Stephanie L Santoro, Brian Chicoine, Peter Bulova, Moya Peterson, Joan Jasien, Anna Jo Smith, null null
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II. American journal of medical genetics. Part A 182 (7) (2020)
Stephanie L Santoro, Brian Chicoine, Joan M Jasien, Judy Lu Kim, Mary Stephens, Peter Bulova, George T Capone
Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature. American journal of medical genetics. Part A 185 (1) (2020)
Angela E Lin, Stephanie L Santoro, Frances A High, Paula Goldenberg, Iris Gutmark-Little
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. American journal of medical genetics. Part C, Seminars in medical genetics 184 (1) (2019)
Stephanie L Santoro, Sheila Cannon, George Capone, Cathy Franklin, Sarah J Hart, Victoria Hobensack, Priya S Kishnani, Eric A Macklin, Kandamurugu Manickam, Andrew McCormick, Patricia Nash, Nicolas M Oreskovic, Vasiliki Patsiogiannis, Katherine Steingass, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G Skotko
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genetics in medicine : official journal of the American College of Medical Genetics 22 (4) (2019)
Sarah J Hart, Kanecia O Zimmerman, Corinne M Linardic, Sheila Cannon, Pastore Anna, Vasiliki Patsiogiannis, Paolo Rossi, Stephanie L Santoro, Brian G Skotko, Amy Torres, Diletta Valentini, Kishore Vellody, Gordon Worley, Priya S Kishnani
Detection of iron deficiency in children with Down syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)