Brian G Skotko (B G Skotko)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 48

Top Topics

Magnetic Resonance

Iron Deficiency

Top Venues

American journal of medical genetics. Part A

Genetics in medicine : official journal of the American College of Medical Genetics

Journal of intellectual disability research : JIDR

American journal of medical genetics. Part C, Seminars in medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Jonathan M Artal, Lindsey Randall, Sabina Rubeck, Megan A Allyse, Marsha Michie, Kirsten A Riggan, Stephanie Meredith, Brian G Skotko
Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022. American journal of medical genetics. Part A 194 (8) (2024)
Jonathan M Artal, Lindsey Randall, Sabina Rubeck, Megan A Allyse, Marsha Michie, Kirsten A Riggan, Stephanie Meredith, Brian G Skotko
Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022. American journal of medical genetics. Part A (2024)
Jonathan M Artal, Lindsey Randall, Sabina Rubeck, Megan A Allyse, Marsha Michie, Kirsten A Riggan, Stephanie Meredith, Brian G Skotko
Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022. American journal of medical genetics. Part A 194 (8) (2024)
Eric Rubenstein, Salina Tewolde, Brian G Skotko, Amy Michals, Juan Fortea
Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR (2023)
Stephanie L Santoro, Carolyn H Baloh, Sarah J Hart, Nora Horick, Priya S Kishnani, Kavita Krell, Nicolas Michel Oreskovic, Mikayla Shaffer, Nasreen Talib, Amy Torres, Gail A Spiridigliozzi, Brian G Skotko
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Rie Kitano, Neel Madan, Takahisa Mikami, Rajeevi Madankumar, Brian G Skotko, Stephanie Santoro, Steven J Ralston, Diana W Bianchi, Tomo Tarui
Biometric magnetic resonance imaging analysis of fetal brain development in down syndrome. Prenatal diagnosis (2023)
Stephanie L Santoro, Nicole T Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J Hart, Kelsey Haugen, Margaret A Hojlo, Nora Horick, Priya S Kishnani, Kavita Krell, Andrew McCormick, Anna L Milliken, Nicolas Michel Oreskovic, Katherine G Pawlowski, Sabrina Sargado, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G Skotko
Response to Letter to the Editor by Palffy and Ghaziuddin. American journal of medical genetics. Part A (2023)
Jeanhee Chung, Kavita Krell, Albert Pless, Carie Michael, Amy Torres, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O'Neill, Angeles Peña, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G Torres, Brian G Skotko
Healthcare experiences of patients with Down syndrome from primarily Spanish-speaking households. American journal of medical genetics. Part A (2023)
Henry C Wilmot, Gert de Graaf, Pieter van Casteren, Frank Buckley, Brian G Skotko
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021. European journal of human genetics : EJHG (2023)
Ayesha Harisinghani, Amar Dhand, Ellen Hollands Steffensen, Brian G Skotko
Sustainability of personal social networks of people with Down syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Daniel J Kats, Brian G Skotko, Gert de Graaf, Ellen Skladzien, Brian Takashi Hooper, Rose Mordi, Tetiana Mykhailenko, Frank Buckley, Vasiliki Patsiogiannis, Kavita Krell, Kelsey Haugen, Karen Donelan
Designing an international survey for organisations serving people with Down syndrome. Journal of applied research in intellectual disabilities : JARID (2023)
Heidi Berger, Jill Wittman, Katelyn Smith, Nora Horick, Kenneth Norris, Allison Young, Javier A. Magaña Gomez, Kenia Kristel Esparza Ocampo, Brian G Skotko
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR 67 (4) (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR 67 (4) (2023)
Stephanie L Santoro, Kelsey Haugen, Karen Donelan, Brian G Skotko
Global health measures from a National Down Syndrome Registry. American journal of medical genetics. Part A (2023)
Stephanie L Santoro, Sandra Baker, Jasmine M Blake, Maria J Cabrera, Kelli Caughman, Jeanhee Chung, Sarah Cullen, Maureen Gallagher, Kelsey Haugen, Roxanne Hoke-Chandler, Kavita Krell, Julius Maina, Diana McLuckie, Vanessa L Merker, Carie Michael, Kate O'Neill, Angeles Peña, Albert Pless, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Amy Torres, Carlos G Torres, Brian G Skotko
Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds. American journal of medical genetics. Part A (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR 67 (4) (2023)
Stephanie L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, Brian G Skotko, J P Winickoff, K Donelan
Health in Down syndrome: creating a conceptual model. Journal of intellectual disability research : JIDR 67 (4) (2023)
Kavita Krell, Albert Pless, Carie Michael, Amy Torres, Jeanhee Chung, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O'Neill, Angeles Peña, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G Torres, Brian G Skotko
Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race. American journal of medical genetics. Part A 191 (3) (2022)
Nicolas Michel Oreskovic, Stamatis Agiovlasitis, Vasiliki Patsiogiannis, Stephanie L Santoro, Dominica Nichols, Brian G Skotko
Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome. Journal of applied research in intellectual disabilities : JARID 35 (3) (2022)
Kavita Krell, Albert Pless, Carie Michael, Amy Torres, Jeanhee Chung, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O'Neill, Angeles Peña, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G Torres, Brian G Skotko
Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race. American journal of medical genetics. Part A 191 (3) (2022)
Kavita Krell, Albert Pless, Carie Michael, Amy Torres, Jeanhee Chung, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O'Neill, Angeles Peña, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G Torres, Brian G Skotko
Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race. American journal of medical genetics. Part A 191 (3) (2022)
Kavita Krell, Albert Pless, Carie Michael, Amy Torres, Jeanhee Chung, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O'Neill, Angeles Peña, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G Torres, Brian G Skotko
Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race. American journal of medical genetics. Part A (2022)
Kavita Krell, Albert Pless, Carie Michael, Amy Torres, Jeanhee Chung, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O'Neill, Angeles Peña, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G Torres, Brian G Skotko
Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race. American journal of medical genetics. Part A 191 (3) (2022)
Brian G Skotko, Kavita Krell, Kelsey Haugen, Amy Torres, Amber Nieves, Amar Dhand
Personal social networks of people with Down syndrome. American journal of medical genetics. Part A (2022)
Brian G Skotko, Alexandra Garza Flores, Ibrahim Elsharkawi, Vasiliki Patsiogiannis, Mary Ellen McDonough, Damiano Verda, Marco Muselli, Roberto Hornero, David Gozal, Eric A Macklin
Validation of a predictive model for obstructive sleep apnea in people with Down syndrome. American journal of medical genetics. Part A (2022)
Stephanie L Santoro, Nicole T Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J Hart, Kelsey Haugen, Margaret A Hojlo, Nora Horick, Priya S Kishnani, Kavita Krell, Andrew McCormick, Anna L Milliken, Nicolas M Oreskovic, Katherine G Pawlowski, Sabrina Sargado, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G Skotko
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. American journal of medical genetics. Part A 188 (10) (2022)
Brian G Skotko
Can a Christ child have Down syndrome? American journal of medical genetics. Part C, Seminars in medical genetics 187 (2) (2021)
James A Hendrix, David C Airey, Angela Britton, Anna D Burke, George T Capone, Ronelyn Chavez, Jacqueline Chen, Brian Chicoine, Alberto C S Costa, Jeffrey L Dage, Eric Doran, Anna Esbensen, Casey L Evans, Kelley M Faber, Tatiana M Foroud, Sarah J Hart, Kelsey Haugen, Elizabeth Head, Suzanne Hendrix, Hampus Hillerstrom, Priya S Kishnani, Kavita Krell, Duvia Lara Ledesma, Florence Lai, Ira Lott, Cesar Ochoa-Lubinoff, Jennifer Mason, Jessie Nicodemus-Johnson, Nicholas Kyle Proctor, Margaret B Pulsifer, Carolyn Revta, H Diana Rosas, Tracie C Rosser, Stephanie Santoro, Kim Schafer, Thomas Scheidemantel, Frederick A Schmitt, Brian G Skotko, Melissa R Stasko, Amy Talboy, Amy Torres, Kristi Wilmes, Jason Woodward, Jennifer A Zimmer, Howard H Feldman, William Mobley
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. Journal of clinical medicine 10 (9) (2021)
Nathan Grant, Rebecca Von Handorf, Amel Karaa, Brian G Skotko
The experiences and support needs of siblings of people with mucopolysaccharidosis. American journal of medical genetics. Part A 185 (11) (2021)
Stephanie L Santoro, Karen Donelan, Kelsey Haugen, Nicolas M Oreskovic, Amy Torres, Brian G Skotko
Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 187 (1) (2021)
Jeanhee Chung, Karen Donelan, Eric A Macklin, Alison Schwartz, Ibrahim Elsharkawi, Amy Torres, Yichuan Grace Hsieh, Holly Parker, Stephen Lorenz, Vasiliki Patsiogiannis, Stephanie L Santoro, Mark Wylie, Lloyd Clarke, Greg Estey, Sandra Baker, Patricia E Bauer, Marilyn Bull, Brian Chicoine, Sarah Cullen, Ariel Frey-Vogel, Maureen Gallagher, Reem Hasan, Ashley Lamb, Lisa Majewski, Jawanda Mast, Travis Riddell, Karen Sepucha, Melissa Skavlem, Brian G Skotko
A randomized controlled trial of an online health tool about Down syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 23 (1) (2020)
Jeanhee Chung, Karen Donelan, Eric A Macklin, Alison Schwartz, Ibrahim Elsharkawi, Amy Torres, Yichuan Grace Hsieh, Holly Parker, Stephen Lorenz, Vasiliki Patsiogiannis, Stephanie L Santoro, Mark Wylie, Lloyd Clarke, Greg Estey, Sandra Baker, Patricia E Bauer, Marilyn Bull, Brian Chicoine, Sarah Cullen, Ariel Frey-Vogel, Maureen Gallagher, Reem Hasan, Ashley Lamb, Lisa Majewski, Jawanda Mast, Travis Riddell, Karen Sepucha, Melissa Skavlem, Brian G Skotko
Correction: A randomized controlled trial of an online health tool about Down syndrome. Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Gert de Graaf, Frank Buckley, Brian G Skotko
Estimation of the number of people with Down syndrome in Europe. European journal of human genetics : EJHG 29 (3) (2020)
Daniel J Kats, Katherine J Roche, Brian G Skotko
Epileptic spasms in individuals with Down syndrome: A review of the current literature. Epilepsia open 5 (3) (2020)
Brian G Skotko, Megan A Allyse, Komal Bajaj, Robert G Best, Mark Leach, Stephanie Meredith, Marsha Michie, Katie Stoll
Response to Johansen Taber et al. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Stephanie L Santoro, Sheila Cannon, George Capone, Cathy Franklin, Sarah J Hart, Victoria Hobensack, Priya S Kishnani, Eric A Macklin, Kandamurugu Manickam, Andrew McCormick, Patricia Nash, Nicolas M Oreskovic, Vasiliki Patsiogiannis, Katherine Steingass, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G Skotko
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genetics in medicine : official journal of the American College of Medical Genetics 22 (4) (2019)
Brian G Skotko, David Samuelson, Andrew Kageleiry, Patrick Lefebvre, Michael Hellstern, John Campbell
Comment on "The price of abandoning diagnostics testing for cell-free fetal DNA screening". Prenatal diagnosis 39 (2) (2019)
Sarah J Hart, Kanecia O Zimmerman, Corinne M Linardic, Sheila Cannon, Pastore Anna, Vasiliki Patsiogiannis, Paolo Rossi, Stephanie L Santoro, Brian G Skotko, Amy Torres, Diletta Valentini, Kishore Vellody, Gordon Worley, Priya S Kishnani
Detection of iron deficiency in children with Down syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)
Brian G Skotko, Megan A Allyse, Komal Bajaj, Robert G Best, Susan Klugman, Mark Leach, Stephanie Meredith, Marsha Michie, Katie Stoll, Anthony R Gregg
Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. Genetics in medicine : official journal of the American College of Medical Genetics 21 (10) (2019)
Gert de Graaf, Susan P Levine, Richard D Goldstein, Brian G Skotko
Parents' perceptions of functional abilities in people with Down syndrome. American journal of medical genetics. Part A 179 (2) (2018)
Gert de Graaf, Frank Buckley, Jennifer Dever, Brian G Skotko
Estimation of live birth and population prevalence of Down syndrome in nine U.S. states. American journal of medical genetics. Part A 173 (10) (2017)
Yasas S N Jayaratne, Ibrahim Elsharkawi, Eric A Macklin, Lauren Voelz, Gil Weintraub, Dennis Rosen, Brian G Skotko
The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea. American journal of medical genetics. Part A 173 (11) (2017)
Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, Blythe Crissman, Emily Davidson, Jose C Florez, Priya S Kishnani, Angela Lombardo, Jordan Lyerly, Mary Ellen McDonough, Alison Schwartz, Kathryn Berrier, Susan Sparks, Kara Stock-Guild, Tomi L Toler, Kishore Vellody, Lauren Voelz, Brian G Skotko
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. American journal of medical genetics. Part A 173 (6) (2017)
Gert de Graaf, Frank Buckley, Brian G Skotko
Live births, natural losses, and elective terminations with Down syndrome in Massachusetts. Genetics in medicine : official journal of the American College of Medical Genetics 18 (5) (2016)
Gert de Graaf, Frank Buckley, Brian G Skotko
Estimation of the number of people with Down syndrome in the United States. Genetics in medicine : official journal of the American College of Medical Genetics 19 (4) (2016)