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Parenting a child with Down syndrome: A qualitative study of everyday practices in Danish families.
Published in:
Journal of Genetic Counseling, 2022, v. 31, n. 3, p. 758, doi. 10.1002/jgc4.1542
By:
- Steffensen, Ellen Hollands;
- Rosvig, Lena Have;
- Santoro, Stephanie;
- Pedersen, Lars Henning;
- Vogel, Ida;
- Lou, Stina
Publication type:
Article
P2‐030: THE LIFE‐DSR STUDY.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P582, doi. 10.1016/j.jalz.2019.06.1252
By:
- Hendrix, James;
- Burke, Anna D.;
- Capone, George;
- Chicoine, Brian;
- Costa, Alberto;
- Esbensen, Anna J.;
- Hart, Sarah J.;
- Head, Elizabeth;
- Kishnani, Priya S.;
- Lai, Florence;
- Lott, Ira T.;
- Ochoa-Lubinoff, Cesar;
- Rosas, H. Diana;
- Rosser, Tracie;
- Santoro, Stephanie L.;
- Schmitt, Frederick A.;
- Sherman, Stephanie;
- Skotko, Brian G.;
- Talboy, Amy L.;
- Woodward, Jason
Publication type:
Article
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome.
Published in:
2020
By:
- Poskanzer, Sheri A.;
- Hobensack, Victoria L.;
- Ciciora, Steven L.;
- Santoro, Stephanie L.
Publication type:
journal article
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 1, p. 1, doi. 10.1002/ajmg.c.32080
By:
- Jett, Jennifer;
- Fossi, Alexander;
- Blonsky, Heather;
- Ross, Wendy;
- Townsend, Sabra;
- Stephens, Mary M.;
- Chicoine, Brian;
- Santoro, Stephanie L.
Publication type:
Article
The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 1, p. 1, doi. 10.1002/ajmg.c.32067
By:
- Karri, Shri;
- Harisinghani, Ayesha;
- Cottrell, Clorinda;
- Santoro, Stephanie L.
Publication type:
Article
Down syndrome across the lifespan.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 4, p. 1, doi. 10.1002/ajmg.c.32082
By:
- Santoro, Stephanie L.
Publication type:
Article
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 4, p. 1, doi. 10.1002/ajmg.c.32070
By:
- Santoro, Stephanie L.;
- Baloh, Carolyn H.;
- Hart, Sarah J.;
- Horick, Nora;
- Kishnani, Priya S.;
- Krell, Kavita;
- Oreskovic, Nicolas M.;
- Shaffer, Mikayla;
- Talib, Nasreen;
- Torres, Amy;
- Spiridigliozzi, Gail A.;
- Skotko, Brian G.
Publication type:
Article
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 4, p. 1, doi. 10.1002/ajmg.c.32063
By:
- Harisinghani, Ayesha;
- Raffaele, Gabriella;
- Zawatsky, Carrie Blout;
- Santoro, Stephanie L.
Publication type:
Article
Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 1, p. 70, doi. 10.1002/ajmg.c.31876
By:
- Santoro, Stephanie L.;
- Donelan, Karen;
- Haugen, Kelsey;
- Oreskovic, Nicolas M.;
- Torres, Amy;
- Skotko, Brian G.
Publication type:
Article
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 53, doi. 10.1002/ajmg.c.31760
By:
- Lin, Angela E.;
- Santoro, Stephanie;
- High, Frances A.;
- Goldenberg, Paula;
- Gutmark‐Little, Iris
Publication type:
Article
Global health measures from a National Down Syndrome Registry.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2092, doi. 10.1002/ajmg.a.63243
By:
- Santoro, Stephanie L.;
- Haugen, Kelsey;
- Donelan, Karen;
- Skotko, Brian G.
Publication type:
Article
Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2045, doi. 10.1002/ajmg.a.63233
By:
- Santoro, Stephanie L.;
- Baker, Sandra;
- Blake, Jasmine M.;
- Cabrera, Maria J.;
- Caughman, Kelli;
- Chung, Jeanhee;
- Cullen, Sarah;
- Gallagher, Maureen;
- Haugen, Kelsey;
- Hoke‐Chandler, Roxanne;
- Krell, Kavita;
- Maina, Julius;
- McLuckie, Diana;
- Merker, Vanessa L.;
- Michael, Carie;
- O'Neill, Kate;
- Peña, Angeles;
- Pless, Albert;
- Royal, Dina;
- Slape, Michelle
Publication type:
Article
Response to Letter to the Editor by Palffy and Ghaziuddin.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1470, doi. 10.1002/ajmg.a.63116
By:
- Santoro, Stephanie L.;
- Baumer, Nicole T.;
- Cornacchia, Michelle;
- Franklin, Catherine;
- Hart, Sarah J.;
- Haugen, Kelsey;
- Hojlo, Margaret A.;
- Horick, Nora;
- Kishnani, Priya S.;
- Krell, Kavita;
- McCormick, Andrew;
- Milliken, Anna L.;
- Oreskovic, Nicolas M.;
- Pawlowski, Katherine G.;
- Sargado, Sabrina;
- Torres, Amy;
- Valentini, Diletta;
- Vellody, Kishore;
- Skotko, Brian G.
Publication type:
Article
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 813, doi. 10.1002/ajmg.a.63088
By:
- Oreskovic, Nicolas M.;
- Baumer, Nicole T.;
- Di Camillo, Chiara;
- Cornachia, Michelle;
- Franklin, Catherine;
- Hart, Sarah J.;
- Kishnani, Priya S.;
- McCormick, Andrew;
- Milliken, Anna L.;
- Patsiogiannis, Vasiliki;
- Pawlowski, Katherine G.;
- Santoro, Stephanie L.;
- Sargado, Sabrina;
- Scoppola, Vittorio;
- Torres, Amy;
- Valentini, Diletta;
- Vellody, Kishore;
- Villani, Alberto;
- Skotko, Brian G.
Publication type:
Article
Assessing co‐occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3162, doi. 10.1002/ajmg.a.62948
By:
- Raffaele, Gabriella;
- Blout Zawatsky, Carrie L.;
- Cottrell, Clorinda;
- Santoro, Stephanie L.
Publication type:
Article
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3049, doi. 10.1002/ajmg.a.62922
By:
- Santoro, Stephanie L.;
- Baumer, Nicole T.;
- Cornacchia, Michelle;
- Franklin, Catherine;
- Hart, Sarah J.;
- Haugen, Kelsey;
- Hojlo, Margaret A.;
- Horick, Nora;
- Kishnani, Priya S.;
- Krell, Kavita;
- McCormick, Andrew;
- Milliken, Anna L.;
- Oreskovic, Nicolas M.;
- Pawlowski, Katherine G.;
- Sargado, Sabrina;
- Torres, Amy;
- Valentini, Diletta;
- Vellody, Kishore;
- Skotko, Brian G.
Publication type:
Article
Caregivers evaluate independence in individuals with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1526, doi. 10.1002/ajmg.a.62680
By:
- Santoro, Stephanie L.;
- Hendrix, James;
- White, Nicole;
- Chandan, Priya
Publication type:
Article
Delivering a new diagnosis of Down syndrome: Parent experience.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3615, doi. 10.1002/ajmg.a.62408
By:
- Lehman, April;
- Leach, Mark;
- Santoro, Stephanie L.
Publication type:
Article
Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2878, doi. 10.1002/ajmg.a.62355
By:
- Blake, Jasmine M.;
- Estrada Gomez, Daniela;
- Skotko, Brian G.;
- Torres, Amy;
- Santoro, Stephanie L.
Publication type:
Article
Specialty clinics for adults with Down syndrome: A clinic survey.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1767, doi. 10.1002/ajmg.a.62169
By:
- Santoro, Stephanie L.;
- Campbell, Ashlee;
- Balasubramanian, Archana;
- Haugen, Kelsey;
- Schafer, Kimberly;
- Mobley, William
Publication type:
Article
Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 286, doi. 10.1002/ajmg.a.61924
By:
- Santoro, Stephanie L.;
- Chicoine, Brian;
- Jasien, Joan M.;
- Kim, Judy Lu;
- Stephens, Mary;
- Bulova, Peter;
- Capone, George
Publication type:
Article
Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1832, doi. 10.1002/ajmg.a.61604
By:
- Capone, George;
- Stephens, Mary;
- Santoro, Stephanie;
- Chicoine, Brian;
- Bulova, Peter;
- Peterson, Moya;
- Jasien, Joan;
- Smith, Anna Jo
Publication type:
Article
An assessment of health, social, communication, and daily living skills of adults with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1389, doi. 10.1002/ajmg.a.38721
By:
- Matthews, Theodora J.;
- Allain, Dawn C.;
- Matthews, Anne L.;
- Mitchell, Anna;
- Santoro, Stephanie L.;
- Cohen, Leslie
Publication type:
Article
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 116, doi. 10.1002/ajmg.a.38512
By:
- Capone, George T.;
- Chicoine, Brian;
- Bulova, Peter;
- Stephens, Mary;
- Hart, Sarah;
- Crissman, Blythe;
- Videlefsky, Andrea;
- Myers, Katherine;
- Roizen, Nancy;
- Esbensen, Anna;
- Peterson, Moya;
- Santoro, Stephanie;
- Woodward, Jason;
- Martin, Barry;
- Smith, David;
- for the Down Syndrome Medical Interest Group DSMIG‐USA Adult Health Care Workgroup
Publication type:
Article
Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.
Published in:
Cleft Palate Craniofacial Journal, 2020, v. 57, n. 12, p. 1362, doi. 10.1177/1055665620947985
By:
- Hickey, Scott E.;
- Kellogg, Brian;
- O'Brien, Meghan;
- Hall, Courtney;
- Kirschner, Richard E.;
- Santoro, Stephanie L.;
- Leonard, Hayley;
- Baylis, Adriane L.
Publication type:
Article
Adherence to Symptom-Based Care Guidelines for Down Syndrome.
Published in:
Clinical Pediatrics, 2017, v. 56, n. 2, p. 150, doi. 10.1177/0009922816652416
By:
- Santoro, Stephanie L.;
- Han Yin;
- Hopkin, Robert J.
Publication type:
Article
Screening for Hematological Disorders in Mosaic Down Syndrome.
Published in:
Clinical Pediatrics, 2016, v. 55, n. 5, p. 421, doi. 10.1177/0009922815589911
By:
- Santoro, Stephanie L.;
- Martin, Lisa J.;
- Hopkin, Robert J.
Publication type:
Article
Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1012, doi. 10.3390/brainsci11081012
By:
- Krell, Kavita;
- Haugen, Kelsey;
- Torres, Amy;
- Santoro, Stephanie L.
Publication type:
Article
K Awards: The Journey of a Thousand Steps.
Published in:
2021
By:
- Santoro, Stephanie L.;
- Peters, Mary Linton B.
Publication type:
Editorial
Usefulness of Postnatal Echocardiography in Patients with Down Syndrome with Normal Fetal Echocardiograms.
Published in:
Pediatric Cardiology, 2019, v. 40, n. 8, p. 1716, doi. 10.1007/s00246-019-02209-w
By:
- Cooper, Amy;
- Sisco, Kacy;
- Backes, Carl H.;
- Dutro, Marc;
- Seabrook, Ruth;
- Santoro, Stephanie L.;
- Cua, Clifford L.
Publication type:
Article
Prevalence and Severity of Alzheimer Disease in Individuals With Down Syndrome.
Published in:
2019
By:
- Rafii, Michael S.;
- Santoro, Stephanie L.
Publication type:
Opinion
Extracorporeal Membrane Oxygenation Characteristics and Outcomes in Adult Patients With Down Syndrome.
Published in:
Artificial Organs, 2018, v. 42, n. 9, p. 921, doi. 10.1111/aor.13160
By:
- Duffy, Vicky;
- Gomez, Daniel;
- Rivera, Brian;
- Santoro, Stephanie L;
- Backes, Carl H;
- Cua, Clifford L;
- Rycus, Peter
Publication type:
Article
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 4, p. 1034, doi. 10.1002/acn3.52023
By:
- Santoro, Jonathan D.;
- Khoshnood, Mellad M.;
- Jafarpour, Saba;
- Nguyen, Lina;
- Boyd, Natalie K.;
- Vogel, Benjamin N.;
- Kammeyer, Ryan;
- Patel, Lina;
- Manning, Melanie A.;
- Rachubinski, Angela L.;
- Filipink, Robyn A.;
- Baumer, Nicole T.;
- Santoro, Stephanie L.;
- Franklin, Catherine;
- Tamrazi, Benita;
- Yeom, Kristen W.;
- Worley, Gordon;
- Espinosa, Joaquin M.;
- Rafii, Michael S.
Publication type:
Article
Dermatology Life Quality Index survey in patients with Down syndrome and caregivers.
Published in:
Pediatric Dermatology, 2024, v. 41, n. 4, p. 671, doi. 10.1111/pde.15593
By:
- Dykman, Morgan;
- Ernst, Madison;
- Rakasiwi, Tasya;
- Buros Stein, Amy;
- Satin, David J.;
- Holland, Kristen E.;
- Santoro, Stephanie L.;
- Rork, Jillian F.
Publication type:
Article
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.940175
By:
- Santoro, Jonathan D.;
- Patel, Lina;
- Kammeyer, Ryan;
- Filipink, Robyn A.;
- Gombolay, Grace Y.;
- Cardinale, Kathleen M.;
- de Asua, Diego Real;
- Zaman, Shahid;
- Santoro, Stephanie L.;
- Marzouk, Sammer M.;
- Khoshnood, Mellad;
- Vogel, Benjamin N.;
- Tanna, Runi;
- Pagarkar, Dania;
- Dhanani, Sofia;
- Ortega, Maria del Carmen;
- Partridge, Rebecca;
- Stanley, Maria A.;
- Sanders, Jessica S.;
- Christy, Alison
Publication type:
Article
De novo variants in immune regulatory genes in Down syndrome regression disorder.
Published in:
Journal of Neurology, 2024, v. 271, n. 8, p. 5567, doi. 10.1007/s00415-024-12521-y
By:
- Jafarpour, Saba;
- Banerjee, Abhik K.;
- Khoshnood, Mellad M.;
- Vogel, Benjamin N.;
- Boyd, Natalie K.;
- Nguyen, Lina;
- Partridge, Rebecca;
- Santoro, Stephanie L.;
- Gombolay, Grace Y.;
- Fisher, Kristen S.;
- de Asua, Diego Real;
- del Ortega, Maria Carmen;
- Franklin, Cathy;
- Rafii, Michael S.;
- Santoro, Jonathan D.
Publication type:
Article
Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts.
Published in:
SAGE Open Medicine, 2017, v. 5, p. 1, doi. 10.1177/2050312117715583
By:
- Santoro, Stephanie L.;
- Atoum, Dema;
- Hufnagel, Robert B.;
- Motley, William W.
Publication type:
Article
Biometric magnetic resonance imaging analysis of fetal brain development in Down syndrome.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 11, p. 1450, doi. 10.1002/pd.6436
By:
- Kitano, Rie;
- Madan, Neel;
- Mikami, Takahisa;
- Madankumar, Rajeevi;
- Skotko, Brian G.;
- Santoro, Stephanie;
- Ralston, Steven J.;
- Bianchi, Diana W.;
- Tarui, Tomo
Publication type:
Article
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Published in:
Cytogenetic & Genome Research, 2017, v. 152, n. 2, p. 105, doi. 10.1159/000478921
By:
- Santoro, Stephanie L.;
- Hashimoto, Sayaka;
- McKinney, aimee;
- Mihalic Mosher, Theresa;
- Pyatt, Robert;
- Reshmi, Shalini C.;
- astbury, Caroline;
- Hickey, Scott E.
Publication type:
Article
Encounters with public and professional understandings of Down syndrome: A qualitative study of parents' experiences.
Published in:
Journal of Applied Research in Intellectual Disabilities, 2024, v. 37, n. 3, p. 1, doi. 10.1111/jar.13221
By:
- Steffensen, Ellen H.;
- Santoro, Stephanie L.;
- Pedersen, Lars H.;
- Vogel, Ida;
- Lou, Stina
Publication type:
Article
Indicators of health in Down syndrome: A virtual focus group study with patients and their parents.
Published in:
Journal of Applied Research in Intellectual Disabilities, 2023, v. 36, n. 2, p. 354, doi. 10.1111/jar.13065
By:
- Santoro, Stephanie L.;
- Cabrera, Maria J.;
- Haugen, Kelsey;
- Krell, Kavita;
- Merker, Vanessa L.
Publication type:
Article
Proxy‐report in individuals with intellectual disability: A scoping review.
Published in:
Journal of Applied Research in Intellectual Disabilities, 2022, v. 35, n. 5, p. 1088, doi. 10.1111/jar.13013
By:
- Santoro, Stephanie L.;
- Donelan, Karen;
- Constantine, Melissa
Publication type:
Article
Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome.
Published in:
Journal of Applied Research in Intellectual Disabilities, 2022, v. 35, n. 3, p. 910, doi. 10.1111/jar.12979
By:
- Oreskovic, Nicolas M.;
- Agiovlasitis, Stamatis;
- Patsiogiannis, Vasiliki;
- Santoro, Stephanie L.;
- Nichols, Dominica;
- Skotko, Brian G.
Publication type:
Article
Piloting the use of global health measures in a Down syndrome clinic.
Published in:
Journal of Applied Research in Intellectual Disabilities, 2021, v. 34, n. 4, p. 1108, doi. 10.1111/jar.12866
By:
- Santoro, Stephanie L.;
- Campbell, Ashlee;
- Cottrell, Clorinda;
- Donelan, Karen;
- Majewski, Ben;
- Oreskovic, Nicolas M.;
- Patsiogiannis, Vasiliki;
- Torres, Amy;
- Skotko, Brian G.
Publication type:
Article
Physical activity patterns in adults with Down Syndrome.
Published in:
Journal of Applied Research in Intellectual Disabilities, 2020, v. 33, n. 6, p. 1457, doi. 10.1111/jar.12773
By:
- Oreskovic, Nicolas M.;
- Cottrell, Clorinda;
- Torres, Amy;
- Patsiogiannis, Vasiliki;
- Santoro, Stephanie;
- Nichols, Dominica;
- Moore, Cynthia;
- Skotko, Brian G.
Publication type:
Article

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