Publications by authors named "Stephanie L Santoro"

25Publications

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

Am J Med Genet A 2020 Oct 19. Epub 2020 Oct 19.

Kennedy Krieger Institute, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.61924DOI Listing
October 2020

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

Cleft Palate Craniofac J 2020 Aug 13:1055665620947985. Epub 2020 Aug 13.

Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1177/1055665620947985DOI Listing
August 2020

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

Pediatrics 2020 06;145(6)

Department of Neurology, Children's Hospital Los Angeles, Los Angeles, California; and

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http://dx.doi.org/10.1542/peds.2019-2939DOI Listing
June 2020

Feeding difficulty and gastrostomy tube placement in infants with Down syndrome.

Eur J Pediatr 2020 Jun 27;179(6):909-917. Epub 2020 Jan 27.

Department of Pediatrics, Division of Genetics and Metabolism, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1007/s00431-020-03591-xDOI Listing
June 2020

Response to Zhang et al.

Genet Med 2020 03 12;22(3):662. Epub 2019 Nov 12.

Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1038/s41436-019-0690-zDOI Listing
March 2020

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

Pediatr Cardiol 2019 Dec 20;40(8):1716-1721. Epub 2019 Sep 20.

Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1007/s00246-019-02209-wDOI Listing
December 2019

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

Eur J Med Genet 2020 Mar 12;63(3):103735. Epub 2019 Aug 12.

The Institute for Genomic Medicine at Nationwide Children's Hospital, USA; The Ohio State University College of Medicine, Department of Pathology, USA; The Ohio State University College of Medicine, Department of Pediatrics, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103735DOI Listing
March 2020

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

JAMA Neurol 2019 02;76(2):142-143

Down Syndrome Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamaneurol.2018.3443DOI Listing
February 2019

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

Pediatr Qual Saf 2017 Sep-Oct;2(5):e039. Epub 2017 Aug 25.

Division of Genetics, Nationwide Children's Hospital, Columbus, Ohio; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Quality Improvement Services, Nationwide Children's Hospital, Columbus, Ohio; and Director of Quality Improvement, Neonatal Services, Nationwide Children's Hospital, Columbus, Ohio.

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http://dx.doi.org/10.1097/pq9.0000000000000039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132463PMC
August 2017

Use of Electronic Health Record Integration for Down Syndrome Guidelines.

Pediatrics 2018 09;142(3)

Down Syndrome Program, Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts; and.

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http://pediatrics.aappublications.org/lookup/doi/10.1542/ped
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http://dx.doi.org/10.1542/peds.2017-4119DOI Listing
September 2018

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

Artif Organs 2018 Sep 17;42(9):921-925. Epub 2018 May 17.

Heart Center, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.

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http://doi.wiley.com/10.1111/aor.13160
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http://dx.doi.org/10.1111/aor.13160DOI Listing
September 2018

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

Am J Med Genet A 2018 06 25;176(6):1389-1397. Epub 2018 Apr 25.

Department of Genetics and Genome Sciences, University Hospitals Case Medical Center, Cleveland, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.38721DOI Listing
June 2018

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

Cytogenet Genome Res 2017 27;152(2):105-109. Epub 2017 Jul 27.

Division of Molecular and Human Genetics, Columbus, OH, USA.

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http://dx.doi.org/10.1159/000478921DOI Listing
September 2017

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

SAGE Open Med 2017 19;5:2050312117715583. Epub 2017 Jun 19.

Division of Ophthalmology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/2050312117715583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480628PMC
June 2017

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 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Adherence to Symptom-Based Care Guidelines for Down Syndrome.

Clin Pediatr (Phila) 2017 Feb 19;56(2):150-156. Epub 2016 Jul 19.

3 Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://journals.sagepub.com/doi/10.1177/0009922816652416
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http://dx.doi.org/10.1177/0009922816652416DOI Listing
February 2017

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

J Pediatr 2016 07 7;174:240-246.e1. Epub 2016 Apr 7.

Thomas Center for Down Syndrome, Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2016.03.023DOI Listing
July 2016

Retrospective Study of Obesity in Children with Down Syndrome.

J Pediatr 2016 06 14;173:143-8. Epub 2016 Mar 14.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati, College of Medicine, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2016.02.046DOI Listing
June 2016

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

J Pediatr 2016 Apr 29;171:262-8.e1-2. Epub 2016 Jan 29.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2015.12.026DOI Listing
April 2016

Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences.

Clin Pediatr (Phila) 2016 May 17;55(5):421-7. Epub 2015 Jun 17.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/0009922815589911DOI Listing
May 2016