Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Brittany N. Simpson"'
Autor:
Sarah J. Potter, Li Zhang, Michael Kotliar, Yuehong Wu, Caitlin Schafer, Kurtis Stefan, Leandros Boukas, Dima Qu’d, Olaf Bodamer, Brittany N. Simpson, Artem Barski, Andrew W. Lindsley, Hans T. Bjornsson
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following up o
Externí odkaz:
https://doaj.org/article/cf9678b7fb124e57af5f1be2328c292d
Autor:
Dima Qu’d, Lauren M. Schmitt, Amber Leston, Jacqueline R. Harris, Anne Slavotinek, Ilka Riddle, Diana S. Brightman, Brittany N. Simpson
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs and halluces, and characteristic facial features. Pathogenic variants in CREBBP lead to RSTS
Externí odkaz:
https://doaj.org/article/161b4de6377147f194258490dd334af5
Autor:
Alexander C. Doherty, David A. Huddleston, Paul S. Horn, Nancy Ratner, Brittany N. Simpson, Elizabeth K. Schorry, Lindsey Aschbacher-Smith, Carlos E. Prada, Donald L. Gilbert
Publikováno v:
Pediatric Neurology. 143:34-43
Autor:
Suraj S. Shah, Anne Fulton, Mireille Jabroun, Diana Brightman, Brittany N. Simpson, Olaf A. Bodamer
Publikováno v:
American Journal of Medical Genetics Part A. 191:1325-1338
Autor:
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara Bandres‐Ciga, Brittany N. Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F. Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo
Publikováno v:
American Journal of Medical Genetics Part A. 191:930-940
Autor:
Virginia Miraldi Utz, Jared J. Ebert, Diana S. Brightman, Brittany N. Simpson, Stefanie Benoit, Robert A. Sisk
Publikováno v:
Ophthalmic genetics.
To report the concurrent presentation and management ofA 6-month-old Caucasian infant presented with poor visual response, high hypermetropia, and infantile-nystagmus with a provisional diagnosis of Leber Congenital Amaurosis based on clinical findin
Autor:
Sarah J Potter, Li Zhang, Michael Kotliar, Yuehong Wu, Caitlin Schafer, Kurtis Stefan, Leandros Boukas, Dima Qu’d, Olaf Bodamer, Brittany N Simpson, Artem Barski, Andrew W Lindsley, Hans T Bjornsson
ObjectiveThere is a clinical need to understand how dysregulated thymocyte development, caused by pathogenic variants in the gene encoding the histone-modifying enzyme, lysine methyltransferase 2D (KMT2D), contributes to immune dysfunction, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29c23032151b736380beb719e9be9406
https://doi.org/10.1101/2022.10.04.510662
https://doi.org/10.1101/2022.10.04.510662
Autor:
Brittany N Simpson, Miguel E Mejía Sang, Yonairy Collado Puello, Elvira J Diaz Brockmans, María F Díaz Soto, Stephanie M Rivera Defilló, Karla M Taveras Cruz, Javier O Santiago Pérez, Ammar Husami, Melissa E Day, Valentina Pilipenko, Rafael Mena, Cesár Mota, Margaret K Hostetter, Louis J Muglia, Elizabeth Schlaudecker, Javier Gonzalez del Rey, Lisa J Martin, Carlos E Prada
Publikováno v:
Journal of the Pediatric Infectious Diseases Society.
We performed an observational cohort study to assess associations between genetic factors of dengue fever (DF) severity in children in the Dominican Republic. A total of 488 participants had serologically confirmed DF. We replicated the association b
Publikováno v:
Journal of Pediatric and Adolescent Gynecology. 36:188
Autor:
Brad Angle, Rotem Ben-Shachar, Gabriel A. Lazarin, Allison L. Goetsch, Katherine Johansen Taber, Jeanine Schulze, Jodi D. Hoffman, Aishwarya Arjunan, Jennifer Tarpinian, Pilar L. Magoulas, Richard Dineen, Raul Torres, Holly Bellerose, Andrea M. Lewis, Jessica A Bucher, Robert Nathan Slotnick, Kelly Bontempo, Brittany N. Simpson
Publikováno v:
Prenatal Diagnosis
BackgroundSeverity is an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Here, we applied a validated algorithm that objectively classifies diseases into severity categories to 176 genes on a clinically availabl