S. Santoro

发表

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

R. Pfundt, O. Pietiläinen, A. Palotie, 2019, Genetics in Medicine.

Contributions to Racial Disparity in Mortality among Children with Down Syndrome.

R. Hopkin, A. Esbensen, B. Patterson, 2016, The Journal of pediatrics.

Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II

B. Chicoine, G. Capone, S. Santoro, 2020, American journal of medical genetics. Part A.

Integrating a Geneticist in a Multidisciplinary Clinic for Down Syndrome Increases Commitment to Genetic Counseling

S. Santoro, T. Bartman, Theodora Jacobson, 2017, Pediatric quality & safety.

Adherence to Symptom-Based Care Guidelines for Down Syndrome

R. Hopkin, S. Santoro, H. Yin, 2017, Clinical pediatrics.

Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.

Lisa J. Martin, R. Hopkin, S. Santoro, 2016, The Journal of pediatrics.

Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome.

S. Agiovlasitis, B. Skotko, S. Santoro, 2022, Journal of applied research in intellectual disabilities : JARID.

Health Supervision for Children and Adolescents With Down Syndrome.

Randall W. Grout, J. A. Scott, J. Stoler, 2022, Pediatrics.

Use of Electronic Health Record Integration for Down Syndrome Guidelines

B. Skotko, S. Santoro, C. Cua, 2018, Pediatrics.

Screening for Hematological Disorders in Mosaic Down Syndrome

Lisa J. Martin, R. Hopkin, S. Santoro, 2016, Clinical pediatrics.

Caregivers evaluate independence in individuals with Down syndrome

S. Santoro, James C. Hendrix, P. Chandan, 2022, American journal of medical genetics. Part A.

Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome

K. Donelan, B. Skotko, S. Santoro, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Prevalence and Severity of Alzheimer Disease in Individuals With Down Syndrome.

M. Rafii, S. Santoro, 2019, JAMA neurology.

Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

Sarah J. Hart, A. Esbensen, B. Chicoine, 2018, American journal of medical genetics. Part A.

Proxy-report in individuals with intellectual disability: A scoping review.

K. Donelan, S. Santoro, M. Constantine, 2022, Journal of applied research in intellectual disabilities : JARID.

Parenting a child with Down syndrome: A qualitative study of everyday practices in Danish families

S. Santoro, I. Vogel, S. Lou, 2021, Journal of genetic counseling.

Feeding difficulty and gastrostomy tube placement in infants with Down syndrome

S. Santoro, Sheri A. Poskanzer, Victoria Hobensack, 2020, European Journal of Pediatrics.

A randomized controlled trial of an online health tool about Down syndrome

P. E. Bauer, Y. G. Hsieh, K. Donelan, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Usefulness of Postnatal Echocardiography in Patients with Down Syndrome with Normal Fetal Echocardiograms

S. Santoro, C. Backes, C. Cua, 2019, Pediatric Cardiology.

Assessing co‐occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history

S. Santoro, C. L. Blout Zawatsky, Gabriella Raffaele, 2022, American journal of medical genetics. Part A.

Refractory Takayasu arteritis successfully treated with infliximab.

S. Santoro, A. Pasqui, M. Di Renzo, 2009, European review for medical and pharmacological sciences.

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

A. Lin, S. Santoro, Iris Gutmark-Little, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts

W. Motley, S. Santoro, R. Hufnagel, 2017, SAGE open medicine.

Congenital heart disease in Down syndrome – A review of temporal changes

S. Santoro, E. H. Steffensen, E. Steffensen, 2021, Journal of Congenital Cardiology.

Opportunities, barriers, and recommendations in down syndrome research

Raymond D. Kent, J. Lawrence, S. Warren, 2021, Translational science of rare diseases.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

D. Horn, J. Clayton-Smith, Jenny C. Taylor, 2016, American journal of human genetics.

Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic

B. Skotko, S. Santoro, J. P. Co, 2022, The Journal of Pediatrics.

Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature

B. Chicoine, G. Capone, S. Santoro, 2020, American journal of medical genetics. Part A.

Detection of iron deficiency in children with Down syndrome

Sarah J. Hart, B. Skotko, S. Santoro, 2019, Genetics in Medicine.

An assessment of health, social, communication, and daily living skills of adults with Down syndrome

S. Santoro, A. Mitchell, D. Allain, 2018, American journal of medical genetics. Part A.

Differences in mortality characteristics in neonates with Down’s syndrome

S. Santoro, C. Backes, C. Cua, 2017, Journal of Perinatology.

Physical activity patterns in adults with Down Syndrome.

C. Moore, B. Skotko, S. Santoro, 2020, Journal of applied research in intellectual disabilities : JARID.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Retrospective Study of Obesity in Children with Down Syndrome.

Lisa J. Martin, H. Saal, S. Santoro, 2016, The Journal of pediatrics.

Unexplained regression in Down syndrome: Management of 51 patients in an international patient database

Sarah J. Hart, N. Horick, Katherine G. Pawlowski, 2022, American journal of medical genetics. Part A.

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Anup D. Patel, J. Gastier-Foster, S. Santoro, 2020, European Journal of Medical Genetics.

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

Sarah J. Hart, H. D. Rosas, D. Airey, 2021, Journal of clinical medicine.

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Sarah J. Hart, G. Capone, B. Skotko, 2019, Genetics in Medicine.

Extracorporeal Membrane Oxygenation Characteristics and Outcomes in Adult Patients With Down Syndrome

S. Santoro, C. Backes, C. Cua, 2018, Artificial organs.

Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome

Sarah J. Hart, Katherine G. Pawlowski, B. Skotko, 2022, American journal of medical genetics. Part A.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

R. Pyatt, S. Hashimoto, S. Santoro, 2017, Cytogenetic and Genome Research.

Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus

M. Rafii, J. Santoro, Sofia Dhanani, 2022, Frontiers in Neurology.

Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance

T. Chitnis, J. Santoro, B. Skotko, 2020, Pediatrics.

Delivering a new diagnosis of Down syndrome: Parent experience

S. Santoro, April Lehman, Mark W. Leach, 2021, American journal of medical genetics. Part A.

Differences in mortality characteristics in neonates with Down’s syndrome

S. Santoro, C. Backes, C. Cua, 2017, Journal of Perinatology.

Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds

S. Cullen, B. Skotko, S. Santoro, 2023, American journal of medical genetics. Part A.

Specialty clinics for adults with Down syndrome: A clinic survey

K. Schafer, W. Mobley, Archana Balasubramanian, 2021, American journal of medical genetics. Part A.

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Sarah J. Hart, G. Capone, B. Skotko, 2019, Genetics in Medicine.

Global health measures from a N ational D own S yndrome R egistry

K. Donelan, B. Skotko, S. Santoro, 2023, American Journal of Medical Genetics Part A.

Health in Down syndrome: creating a conceptual model.

K. Donelan, J. Winickoff, B. Skotko, 2023, Journal of intellectual disability research : JIDR.

Indicators of health in Down syndrome: A virtual focus group study with patients and their parents.

S. Santoro, V. Merker, K. Krell, 2023, Journal of applied research in intellectual disabilities : JARID.

Global health measures from a National Down Syndrome Registry

K. Donelan, B. Skotko, S. Santoro, 2023, American journal of medical genetics. Part A.

Pre-visit concerns: What caregivers hope to address at a specialty clinic for down syndrome.

S. Santoro, Amy Torres, K. Krell, 2022, European Journal of Medical Genetics.

Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic

S. Santoro, Amy Torres, K. Krell, 2021, Brain Science.

Piloting the use of global health measures in a Down syndrome clinic.

K. Donelan, B. Skotko, S. Santoro, 2021, Journal of applied research in intellectual disabilities : JARID.

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome

R. Kirschner, S. Santoro, S. Hickey, 2020, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.

Lisa J. Martin, R. Hopkin, S. Santoro, 2016, The Journal of pediatrics.

Detection of iron deficiency in children with Down syndrome

Sarah J. Hart, B. Skotko, S. Santoro, 2019, Genetics in Medicine.

Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan

B. Skotko, S. Santoro, Jasmine M Blake, 2021, American journal of medical genetics. Part A.

Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic

S. Santoro, Gabriella Raffaele, Ayesha Harisinghani, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

R. Pyatt, S. Hashimoto, S. Santoro, 2017, Cytogenetic and Genome Research.

Down syndrome across the lifespan

S. Santoro, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.