Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study

Autor: Antonio R. Porras, Carlos Tor-Díez, Marshall L. Summar, Kenneth N. Rosenbaum, Marius George Linguraru

Publikováno v: The Lancet Digital Health. 3:e635-e643

BACKGROUND Delays in the diagnosis of genetic syndromes are common, particularly in low and middle-income countries with limited access to genetic screening services. We, therefore, aimed to develop and evaluate a machine learning-based screening tec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48cd59bb4f540b0d974b6981fff0d17
https://doi.org/10.1016/s2589-7500(21)00137-0

Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Autor: Elizabeth Siqveland, Concepción Hernández-Chico, Jonathan Zonana, Melissa Crenshaw, Maurice J. Mahoney, Eric Legius, Helene Verhelst, Débora Romeo Bertola, Karen W. Gripp, Tom Callens, Jaishri O. Blakeley, Nicole J. Ullrich, Arelis Martir-Negron, Karol Rubin, Marica Eoli, Margaret R. Wallace, Jose Guevara-Campos, Karin Dahan, Zhenbin Chen, Patricia Galvin-Parton, Elaine H. Zackai, Isabelle Maystadt, Radhika Dhamija, Lane S. Rutledge, Meriel McEntagart, Rick van Minkelen, Geert Mortier, Meena Balasubramanian, La Donna Immken, Maria Daniela D'Agostino, Anne Destree, Alicia Gomes, Kenneth N. Rosenbaum, Rhonda L. Schonberg, Emma Burkitt-Wright, Meng-Chang Hsiao, Meena Upadhyaya, Sherrell Johnson, Meredith Seidel, Alessandro De Luca, Troy A. Becker, David T. Miller, Veronica Saletti, Bruce R. Korf, Shay Ben-Shachar, Carey McDougall, David W. Stockton, Magdalena Koczkowska, Kathleen Claes, Laura Russell, Ludwine Messiaen, D. Gareth Evans, Mitch Cunningham, Allison Schreiber, Scott R. Plotkin, Dinel A. Pond, Kristi J. Jones, Vickie Zurcher, Jaya K. George-Abraham, Alison Callaway, Beth Keena, Yunjia Chen, Neil A. Hanchard, Angela Sharp, Yoon Sim Yap, Karin Soares Gonçalves Cunha, Nancy J. Mendelsohn, Jenny Morton, Christopher P. Barnett, Yolanda Martin, Aaina Kochhar, Eva Trevisson, Jan Liebelt, John Pappas, Sandra Janssens

Publikováno v: AMERICAN JOURNAL OF HUMAN GENETICS
American Journal of Human Genetics
Koczkowska, M, Burkitt Wright, E, Evans, D G, Messiaen, L M & et al 2018, ' Genotype-phenotype correlation in NF1 patients: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848. ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.12.001
American Journal of Human Genetics, 102(1), 69-87. Cell Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
The American journal of human genetics

Neurofibromatosis type 1 (NF1), one of the most common genetic disorders with an estimated prevalence of 1:3000 live births, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fb40e7374e1b5e11ec8bd5755064
https://hdl.handle.net/1854/LU-8546030

Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA

Autor: Qian Zhao, Kenneth N. Rosenbaum, Dina J. Zand, Lindsay Kehoe, Kazunori Okada, Marius George Linguraru, Marshall L. Summar, Raymond W. Sze

Publikováno v: Medical Image Analysis. 18:699-710

Down syndrome, the most common single cause of human birth defects, produces alterations in physical growth and mental retardation. If missed before birth, the early detection of Down syndrome is crucial for the management of patients and disease. Ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6415e76a09b24ac40d11a6778cc5006
https://doi.org/10.1016/j.media.2014.04.002

Best Practices in Managing Transition to Adulthood for Adolescents With Congenital Heart Disease: The Transition Process and Medical and Psychosocial Issues

Autor: Katherine Bjornsen, Paul J. Sagerman, Graham J. Reid, Sangeeta Shah, Elizabeth Tong, Arwa Saidi, Kenneth N. Rosenbaum, Rhonda Schonberg, Karen Uzark, Michelle Gurvitz, Thomas P. Graham, John Reiss, Craig Sable, Heidi M. Connolly, Roberta G. Williams, Adrienne H. Kovacs, Elyse Foster, Alison K. Meadows, Mary M. Canobbio

Publikováno v: Paediatrics Publications

Many children born with complex childhood illnesses that historically caused early death are now surviving into adulthood with the expectation of leading meaningful and productive lives. They will ultimately need to transition their care from pediatr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a1b1498abf5b1d8ec20007b2360669
https://doi.org/10.1161/cir.0b013e3182107c56

Developmental Profile and Trajectory of Neuropsychological Skills in A Child With Kabuki Syndrome: Implications for Assessment of Syndromes Associated with Intellectual Disability

Autor: Paul H. Lipkin, Jacqueline H. Sanz, E. Mark Mahone, Kenneth N. Rosenbaum

Publikováno v: The Clinical Neuropsychologist. 24:1181-1192

Kabuki syndrome (KS) is a rare genetic syndrome involving dysmorphic facial features, and reports of intellectual disability (ID). We examined the developmental trajectory of neuropsychological skills in a child with KS (seen at ages 4, 6, 7, 9, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fbef1d23ceb99f0a207222930e74b76
https://doi.org/10.1080/13854046.2010.506198