BrianGarySkotkoMD

PubMed

• Results of inaugural international Down Syndrome Societal Services and Supports survey.
  Daniel J Kats, Karen Donelan, Souvik Banerjee, Gert de Graaf, Ellen Skladzien, Brian Takashi Hooper, Rose Mordi, Tetiana Mykhailenko, Frank Buckley, Vasiliki Patsiogia...> ;Genetics in Medicine. 2024 Mar 19
• Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome.
  Heidi Berger, Jill Wittman, Katelyn Smith, Nora Horick, Kenneth Norris, Allison Young, Javier Magana Gomez, Kenia Kristel Esparza Ocampo, Brian G Skotko> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2024 Mar 1
• COVID-19-Related Outcomes Among Group Home Residents with Serious Mental Illness in Massachusetts in the First Year of the Pandemic.
  Vicki Fung, Julie H Levison, Anna Wilson, David Cheng, Cindy Chau, David Krane, Hao D Trieu, Kelly Irwin, Elizabeth Cella, Bruce Bird, Kim Shellenberger, Paula Silverm...> ;Administration and Policy in Mental Health. 2024 Jan 1
• Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.
  Stephanie L Santoro, Carolyn H Baloh, Sarah J Hart, Nora Horick, Priya S Kishnani, Kavita Krell, Nicolas M Oreskovic, Mikayla Shaffer, Nasreen Talib, Amy Torres, Gail ...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Dec 1
• Sustainability of personal social networks of people with Down syndrome.
  Ayesha Harisinghani, Amar Dhand, Ellen Hollands Steffensen, Brian G Skotko> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2024 Mar 1
• Biometric magnetic resonance imaging analysis of fetal brain development in Down syndrome.
  Rie Kitano, Neel Madan, Takahisa Mikami, Rajeevi Madankumar, Brian G Skotko, Stephanie Santoro, Steven J Ralston, Diana W Bianchi, Tomo Tarui> ;Prenatal Diagnosis. 2023 Oct 1
• 2 citations
  Healthcare experiences of patients with Down syndrome from primarily Spanish-speaking households.
  Jeanhee Chung, Kavita Krell, Albert Pless Jr, Carie Michael, Amy Torres, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-C...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 2 citations
  Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds.
  Stephanie L Santoro, Sandra Baker, Jasmine M Blake, Maria J Cabrera, Kelli Caughman, Jeanhee Chung, Sarah Cullen, Maureen Gallagher, Kelsey Haugen, Roxanne Hoke-Chandl...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 2 citations
  Global health measures from a National Down Syndrome Registry.
  Stephanie L Santoro, Kelsey Haugen, Karen Donelan, Brian G Skotko> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• Group Home Staff Experiences With Work and Health in the COVID-19 Pandemic in Massachusetts.
  Karen Donelan, Jessica Wolfe, Anna Wilson, Carie Michael, Cindy Chau, David Krane, Paula Silverman, Jessica E Becker, David Cheng, Elizabeth Cella, Bruce Bird, Julie H...> ;JAMA Health Forum. 2023 Apr 7
• 3 citations
  Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic.
  Stephanie L Santoro, Yamini J Howe, Kavita Krell, Brian G Skotko, John Patrick T Co> ;The Journal of Pediatrics. 2023 Apr 1
• 3 citations
  Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021.
  Henry C Wilmot, Gert de Graaf, Pieter van Casteren, Frank Buckley, Brian G Skotko> ;European Journal of Human Genetics. 2023 May 1
• 1 citations
  Designing an international survey for organisations serving people with Down syndrome.
  Daniel J Kats, Brian G Skotko, Gert de Graaf, Ellen Skladzien, Brian Takashi Hooper, Rose Mordi, Tetiana Mykhailenko, Frank Buckley, Vasiliki Patsiogiannis, Kavita Kre...> ;Journal of Applied Research in Intellectual Disabilities. 2023 May 1
• 5 citations
  Health in Down syndrome: creating a conceptual model.
  S L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, B G Skotko, J P Winickoff, K Donelan> ;Journal of Intellectual Disability Research. 2023 Apr 1
• Response to Letter to the Editor by Palffy and Ghaziuddin.
  Stephanie L Santoro, Nicole T Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J Hart, Kelsey Haugen, Margaret A Hojlo, Nora Horick, Priya S Kishnani, Kavita Kre...> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 4 citations
  Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.
  Nicolas M Oreskovic, Nicole T Baumer, Chiara Di Camillo, Michelle Cornachia, Catherine Franklin, Sarah J Hart, Priya S Kishnani, Andrew McCormick, Anna L Milliken, Vas...> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• 3 citations
  Best practices to reduce COVID-19 in group homes for individuals with serious mental illness and intellectual and developmental disabilities: Protocol for a hybrid typ...
  Julie H Levison, David Krane, Karen Donelan, Kelly Aschbrenner, Hao D Trieu, Cindy Chau, Anna Wilson, Nicolas M Oreskovic, Kelly Irwin, Lisa I Iezzoni, Haiyi Xie, Roni...> ;Contemporary Clinical Trials. 2023 Feb 1
• 7 citations
  Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race.
  Kavita Krell, Albert Pless Jr, Carie Michael, Amy Torres, Jeanhee Chung, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-C...> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• 1 citations
  Personal social networks of people with Down syndrome.
  Brian G Skotko, Kavita Krell, Kelsey Haugen, Amy Torres, Amber Nieves, Amar Dhand> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• Validation of a predictive model for obstructive sleep apnea in people with Down syndrome.
  Brian G Skotko, Alexandra Garza Flores, Ibrahim Elsharkawi, Vasiliki Patsiogiannis, Mary Ellen McDonough, Damiano Verda, Marco Muselli, Roberto Hornero, David Gozal, E...> ;American Journal of Medical Genetics. Part A. 2023 Feb 1
• 6 citations
  Recommendations to improve the patient experience and avoid bias when prenatal screening/testing.
  Stephanie Meredith, Scotti Brackett, Keith M Diaz, Kathleen G Freeman, Erin Huggins, Hadia Khan, Mark W Leach, Mitchell Levitz, Marsha Michie, Janet Onufer, Brian G Sk...> ;Disability and Health Journal. 2023 Apr 1
• 2 citations
  Estimation of the number of people with Down syndrome in Australia and New Zealand.
  Gert de Graaf, Ellen Skladzien, Frank Buckley, Brian G Skotko> ;Genetics in Medicine. 2022 Dec 1
• 18 citations
  Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
  Stephanie L Santoro, Nicole T Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J Hart, Kelsey Haugen, Margaret A Hojlo, Nora Horick, Priya S Kishnani, Kavita Kre...> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• Correction to: Estimation of the number of people with Down syndrome in Europe.
  Gert de Graaf, Frank Buckley, Brian G Skotko> ;European Journal of Human Genetics. 2022 Oct 1
• 13 citations
  Evaluation of Upper Airway Stimulation for Adolescents With Down Syndrome and Obstructive Sleep Apnea.
  Phoebe K Yu, Matthew Stenerson, Stacey L Ishman, Sally R Shott, Nikhila Raol, Ryan J Soose, Allison Tobey, Cristina Baldassari, Raj C Dedhia, Margaret B Pulsifer, Juli...> ;JAMA Otolaryngology-- Head & Neck Surgery. 2022 Jun 1
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Journal Articles

• A New Microdeletion Syndrome Involving TBC1D24, ATP6V0C, and PDPK1 Causes Epilepsy, Microcephaly, and Developmental Delay  
  Brian G Skotko, Jessica L Waxler, Nature
• Contributions of a specialty clinic for children with Down syndrome  
  Skotko, B.G., Davidson, E.J., Weintraub, G.S., American Journal of Medical Genetics, Part A, 1/1/2013
• ACMG statement on noninvasive prenatal screening for fetal aneuploidy (Policy Statement)  
  Gregg, A.R., Gross, S.J., Best, R.G., Monaghan, K.G., Bajaj, K., Skotko, B.G., Thompson, B.H., Watson, M.S., Genetics in Medicine, 1/1/2013
• Resources available for informed prenatal decisions (Letter to the Editor)  
  Leach, M., Skotko, B.G., Genetics in Medicine, 1/1/2012
• Parental perceptions of sleep disturbances and sleep-disordered breathing in children with Down syndrome  
  Rosen, D., Lombardo, A., Skotko, B., & Davidson, EJ, Clinical Pediatrics, 1/1/2011
• Having a Son or Daughter with Down Syndrome: Perspectives from Mothers and Fathers  
  Skotko, B.G., Levine, S.P., Goldstein, R., American Journal of Medical Genetics Part A, 1/1/2011
• Having a Brother or Sister with Down Syndrome: Perspectives from Siblings  
  Skotko, B.G., Levine, S.P., Goldstein, R., American Journal of Medical Genetics Part A, 1/1/2011
• Self-perceptions from People with Down Syndrome  
  Skotko, B.G., Levine, S.P., Goldstein, R., American Journal of Medical Genetics, Part A, 1/1/2011
• Prenatal diagnosis of Down syndrome: How best to deliver the news  
  Skotko, B., Kishnani, P., & Capone, G. for the Down Syndrome Diagnosis Study Group, American Journal of Medical Genetics, Part A, 1/1/2009
• With new prenatal testing, will babies with Down syndrome slowly disappear?  
  Skotko, B., Archives of Disease in Childhood, 1/1/2009
• HM's personal crossword puzzles: Understanding memory and language  
  Skotko, B., Rubin, D., & Tupler, L., Memory, 1/1/2008
• First- and Second-Trimester Evaluation of Risk for Down Syndrome (Letter to the Editor)  
  Skotko, B., Obstetrics and Gynecology, 1/1/2007
• What the other children are thinking: Brothers and sisters of persons with Down syndrome  
  Skotko, B., & Levine, S. P., American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 1/1/2006
• A surprising postnatal diagnosis (Letter to the Editor)  
  Skotko, B., Obstetrics and Gynecology, 1/1/2006
• Words matter: The importance of nondirective language in first-trimester assessments for Down syndrome (Letter to the Editor)  
  Skotko, B., American Journal of Obstetrics and Gynecology, 1/1/2006
• Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers (Letter to the Editor)  
  Skotko, B., Obstetrics & Gynecology, 1/1/2006
• Continuing a Pregnancy After Receiving a Prenatal Diagnosis of Down Syndrome in Spain  
  Skotko, B., Bedia, R., Progresos en Diagnostico y Tratamiento Prenatal, 1/1/2005
• Language and the Medial Temporal Lobe: Evidence from HM's Spontaneous Discourse  
  Skotko, B., Andrews, A., & Einstein, G., Journal of Memory and Language, 1/1/2005
• Communicating the postnatal diagnosis of Down syndrome: An international call for change  
  Skotko, B., Italian Journal of Pediatrics, 1/1/2005
• Postnatal support for mothers of children with Down syndrome  
  Skotko, B., & Canal, R., Mental Retardation, 1/1/2005
• Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers  
  Skotko, B., American Journal of Obstetrics & Gynecology, 1/1/2005
• Puzzling thoughts for HM: Can new semantic information be anchored to old semantic memories?  
  Skotko, B., Kensinger, E., Locascio, J., Einstein, G., Rubin, D., Tupler L., Krendl, A., & Corkin, S., Neuropsychology, 1/1/2004
• Apoyo postnatal para madres de niños con syndrome de Down  
  Skotko, B., & Canal, R., Revista Sindrome de Down, 1/1/2004
• Parent reading behaviors and communication outcomes in girls with Rett syndrome  
  Skotko, B., Koppenhaver, D., & Erickson, K., Exceptional Children, 1/1/2004
• Supporting communication of girls with Rett syndrome and their mothers in storybook reading  
  Koppenhaver, D., Erickson, K., Skotko, B., International Journal of Disability, Development, and Education, 1/1/2001
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