Publications by authors named "Brian G Skotko"

56Publications

Regional Alterations in Cortical Sulcal Depth in Living Fetuses with Down Syndrome.

Cereb Cortex 2020 Sep 17. Epub 2020 Sep 17.

Fetal Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1093/cercor/bhaa255DOI Listing
September 2020

Epileptic spasms in individuals with Down syndrome: A review of the current literature.

Epilepsia Open 2020 Sep 30;5(3):344-353. Epub 2020 Jun 30.

Down Syndrome Program Division of Medical Genetics and Metabolism Department of Pediatrics Massachusetts General Hospital Boston MA USA.

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http://dx.doi.org/10.1002/epi4.12412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469826PMC
September 2020

Physical activity patterns in adults with Down Syndrome.

J Appl Res Intellect Disabil 2020 Jul 13. Epub 2020 Jul 13.

Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1111/jar.12773DOI Listing
July 2020

Epileptic Spasms in Patients With Down Syndrome: Experiences From Caregivers.

J Child Neurol 2020 Oct 25;35(12):813-819. Epub 2020 Jun 25.

Down Syndrome Program, Division of Medical Genetics, Department of Pediatrics, 2348Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073820932770DOI Listing
October 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

New-Onset Abnormal Vocalizations in an Adult Woman With Down Syndrome.

Psychosomatics 2020 Mar 26. Epub 2020 Mar 26.

Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA; Department of Psychiatry, Harvard Medical School, Boston, MA. Electronic address:

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http://dx.doi.org/10.1016/j.psym.2020.03.004DOI Listing
March 2020

Down syndrome.

Nat Rev Dis Primers 2020 02 6;6(1). Epub 2020 Feb 6.

Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1038/s41572-019-0143-7DOI Listing
February 2020

Diminished Blood Pressure Profiles in Children With Down Syndrome.

Hypertension 2020 Mar 13;75(3):819-825. Epub 2020 Jan 13.

Harvard Medical School, Boston, MA (J.D.S., B.G.S.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.119.14416DOI Listing
March 2020

Receiving the news of Down syndrome in the era of prenatal testing.

Am J Med Genet A 2020 02 21;182(2):374-385. Epub 2019 Dec 21.

Dutch Down Syndrome Foundation, Meppel, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61438DOI Listing
February 2020

Geospatial Analyses of Accessibility to Down Syndrome Specialty Care.

J Pediatr 2020 03 5;218:146-150.e1. Epub 2019 Dec 5.

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

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http://dx.doi.org/10.1016/j.jpeds.2019.10.058DOI Listing
March 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

Alzheimer's disease development in adults with Down syndrome: Caregivers' perspectives.

Am J Med Genet A 2020 01 22;182(1):104-114. Epub 2019 Oct 22.

Genetic Counseling Graduate Program, Division of Human Genetics, The Ohio State University, Columbus, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.61390DOI Listing
January 2020

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Quantitative MRI Analyses of Regional Brain Growth in Living Fetuses with Down Syndrome.

Cereb Cortex 2020 01;30(1):382-390

Prenatal Genomics and Fetal Therapy Section, Medical Gen etics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/cercor/bhz094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029684PMC
January 2020

Response to Johansen Taber et al.

Genet Med 2019 11 3;21(11):2660-2661. Epub 2019 Jun 3.

Genetic Support Foundation, Olympia, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0556-4DOI Listing
November 2019

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.

Genet Med 2019 10 3;21(10):2285-2292. Epub 2019 Apr 3.

Departments of Obstetrics and Gynecology and Maternal Fetal Medicine, Baylor University Medical Center, Dallas, TX, USA.

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http://dx.doi.org/10.1038/s41436-019-0485-2DOI Listing
October 2019

Comment on "The price of abandoning diagnostics testing for cell-free fetal DNA screening".

Prenat Diagn 2019 01 13;39(2):130. Epub 2019 Jan 13.

Department of Economics, Harvard University, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/pd.5331DOI Listing
January 2019

Parents' perceptions of functional abilities in people with Down syndrome.

Am J Med Genet A 2019 02 24;179(2):161-176. Epub 2018 Dec 24.

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

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http://dx.doi.org/10.1002/ajmg.a.61004DOI Listing
February 2019

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

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

Am J Med Genet A 2017 Nov 8;173(11):3029-3041. Epub 2017 Sep 8.

Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38465DOI Listing
November 2017

Estimation of live birth and population prevalence of Down syndrome in nine U.S. states.

Am J Med Genet A 2017 Oct 16;173(10):2710-2719. Epub 2017 Aug 16.

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

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http://dx.doi.org/10.1002/ajmg.a.38402DOI Listing
October 2017

The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea.

Am J Med Genet A 2017 Nov 17;173(11):3013-3021. Epub 2017 Aug 17.

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

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http://dx.doi.org/10.1002/ajmg.a.38399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650534PMC
November 2017

Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome.

Sleep Med 2017 Jun 7;34:84-89. Epub 2017 Mar 7.

Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2017.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439300PMC
June 2017

Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347."

Am J Med Genet A 2017 05 16;173(5):1453. Epub 2017 Feb 16.

Department of Psychosocial Oncology and Palliative Care, Dana Farber Cancer Institute, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38185DOI Listing
May 2017

A predictive model for obstructive sleep apnea and Down syndrome.

Am J Med Genet A 2017 Apr 26;173(4):889-896. Epub 2017 Jan 26.

Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38137DOI Listing
April 2017

Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome.

Am J Med Genet A 2017 Mar 14;173(3):627-637. Epub 2016 Dec 14.

Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38050DOI Listing
March 2017

Estimation of the number of people with Down syndrome in the United States.

Genet Med 2017 04 8;19(4):439-447. Epub 2016 Sep 8.

Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://www.nature.com/articles/gim2016127
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http://dx.doi.org/10.1038/gim.2016.127DOI Listing
April 2017

Rapid clinical deterioration in an individual with Down syndrome.

Am J Med Genet A 2016 07 5;170(7):1899-902. Epub 2016 May 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37674DOI Listing
July 2016

Live births, natural losses, and elective terminations with Down syndrome in Massachusetts.

Genet Med 2016 05 14;18(5):459-66. Epub 2016 Apr 14.

Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.15DOI Listing
May 2016

Family perspectives about Down syndrome.

Am J Med Genet A 2016 Apr 22;170A(4):930-41. Epub 2015 Dec 22.

Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.37520DOI Listing
April 2016

Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States.

Am J Med Genet A 2015 Apr;167A(4):756-67

Dutch Down Syndrome Foundation, Meppel, the Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37001DOI Listing
April 2015

Contributions of a specialty clinic for children and adolescents with Down syndrome.

Am J Med Genet A 2013 Mar 7;161A(3):430-7. Epub 2013 Feb 7.

Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Massachusetts 02114, USA.

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http://dx.doi.org/10.1002/ajmg.a.35795DOI Listing
March 2013

Resources available for informed prenatal decisions.

Genet Med 2012 Mar;14(3):348-9

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http://dx.doi.org/10.1038/gim.2011.58DOI Listing
March 2012

Having a son or daughter with Down syndrome: perspectives from mothers and fathers.

Am J Med Genet A 2011 Oct 13;155A(10):2335-47. Epub 2011 Sep 13.

Division of Genetics, Department of Medicine, Children's Hospital Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.34293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3353148PMC
October 2011

Self-perceptions from people with Down syndrome.

Am J Med Genet A 2011 Oct 9;155A(10):2360-9. Epub 2011 Sep 9.

Division of Genetics, Department of Medicine, Children's Hospital Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.34235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740159PMC
October 2011

Having a brother or sister with Down syndrome: perspectives from siblings.

Am J Med Genet A 2011 Oct 9;155A(10):2348-59. Epub 2011 Sep 9.

Division of Genetics, Department of Medicine, Children's Hospital Boston, MA, USA.

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http://dx.doi.org/10.1002/ajmg.a.34228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348944PMC
October 2011

Prenatal diagnosis of Down syndrome: how best to deliver the news.

Am J Med Genet A 2009 Nov;149A(11):2361-7

Division of Genetics, Department of Medicine, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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https://www.kennedykrieger.org/sites/kki2.com/files/prenatal
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http://dx.doi.org/10.1002/ajmg.a.33082DOI Listing
November 2009

Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news.

Pediatrics 2009 Oct 28;124(4):e751-8. Epub 2009 Sep 28.

Division of Genetics, Department of Medicine, Children's Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA.

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http://dx.doi.org/10.1542/peds.2009-0480DOI Listing
October 2009

With new prenatal testing, will babies with Down syndrome slowly disappear?

Authors:
Brian G Skotko

Arch Dis Child 2009 Nov 15;94(11):823-6. Epub 2009 Jun 15.

Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1136/adc.2009.166017DOI Listing
November 2009

First- and second-trimester evaluation of risk for Down syndrome.

Authors:
Brian G Skotko

Obstet Gynecol 2007 Dec;110(6):1426; author reply 1426-7

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http://dx.doi.org/10.1097/01.AOG.0000296095.69251.7fDOI Listing
December 2007

A surprising postnatal diagnosis.

Authors:
Brian G Skotko

Obstet Gynecol 2006 Nov;108(5):1297; author reply 1297

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http://dx.doi.org/10.1097/01.AOG.0000244980.83768.9eDOI Listing
November 2006

What the other children are thinking: brothers and sisters of persons with Down syndrome.

Am J Med Genet C Semin Med Genet 2006 Aug;142C(3):180-6

Children's Hospital Boston, USA.

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http://dx.doi.org/10.1002/ajmg.c.30101DOI Listing
August 2006

Puzzling thoughts for H. M.: can new semantic information be anchored to old semantic memories?

Neuropsychology 2004 Oct;18(4):756-69

Department of Biological Anthropology and Anatomy, Duke University, Durham, NC, USA.

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http://dx.doi.org/10.1037/0894-4105.18.4.756DOI Listing
October 2004