Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Billie Lianoglou"'
Autor:
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)
Abstract The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a co
Externí odkaz:
https://doaj.org/article/c19fcc01932947f88e053f92d2e0e021
Autor:
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/b1f5932fcc964295b8b3d3403778b9ab
Autor:
Iskren Menkovic, James Beasley, Haoyue Zhang, Billie Lianoglou, Jingwei Yu, Ashlee Stiles, Paul Harmatz, Sarah Young
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100037- (2023)
Externí odkaz:
https://doaj.org/article/1146f49d78524f3aad5ac13a3180b0cb
Autor:
Mary Norton, Billie Lianoglou, Matthew Shear, Sara Ackerman, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Neil Risch, Pui-Yan Kwok, Anne Slavotinek, Teresa Sparks
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100647- (2023)
Externí odkaz:
https://doaj.org/article/87b1a6b74b4748028c09b94acd786c8b
Autor:
Teresa Sparks, Billie Lianoglou, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Pui-Yan Kwok, Sara Ackerman, Anne Slavotinek, Neil Risch, Mary Norton
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100648- (2023)
Externí odkaz:
https://doaj.org/article/598a3764053d4afa8d26999d4ce735d8
Autor:
Marisa E. Schwab, Julia E. H. Brown, Billie Lianoglou, Chengshi Jin, Patricia C. Conroy, Renata C. Gallagher, Paul Harmatz, Tippi C. MacKenzie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood–brain barrier, and early disease onset and progression
Externí odkaz:
https://doaj.org/article/26b2ae6f02f64042b5ae5b03889d8f10
Autor:
Marisa E. Schwab, Shirley Shao, Li Zhang, Billie Lianoglou, Lisa Belter, Jill Jarecki, Mary Schroth, Charlotte J. Sumner, Tippi MacKenzie
Publikováno v:
Prenat Diagn
Prenatal diagnosis, vol 42, iss 11
Prenatal diagnosis, vol 42, iss 11
ObjectiveIn utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.MethodsA multidisciplinary team designed
Autor:
Shannon Rego, Hannah Hoban, Simon Outram, Astrid N. Zamora, Flavia Chen, Nuriye Sahin-Hodoglugil, Beatriz Anguiano, Matthew Norstad, Tiffany Yip, Billie Lianoglou, Teresa N. Sparks, Mary E. Norton, Barbara A. Koenig, Anne M. Slavotinek, Sara L. Ackerman
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 24, iss 6
Genet Med
Genet Med
PURPOSE: Patients undergoing clinical exome sequencing (ES) are routinely offered the option to receive secondary findings (SF). However, little is known about the views of individuals from underrepresented minority pediatric or prenatal populations
Autor:
Bobby K, Brar, Marisa Gilstrop, Thompson, Neeta L, Vora, Kelly, Gilmore, Karin, Blakemore, Kristen A, Miller, Jessica, Giordano, Andreas, Dufke, Beatrix, Wong, Samantha, Stover, Billie, Lianoglou, Ignatia, Van den Veyver, Esther, Dempsey, Mara, Rosner, Karen, Chong, David, Chitayat, Teresa N, Sparks, Mary E, Norton, Ronald, Wapner, Kristin, Baranano, Angie C, Jelin
Publikováno v:
Prenatal diagnosisREFERENCES. 42(13)
Tubulinopathies refer to conditions caused by genetic variants in isotypes of tubulin resulting in defective neuronal migration. Historically, diagnosis was primarily via postnatal imaging. Our objective was to establish the prenatal phenotype/genoty
Autor:
Akos Herzeg, Graça Almeida‐Porada, R. Alta Charo, Anna L. David, Juan Gonzalez‐Velez, Nalin Gupta, Larissa Lapteva, Billie Lianoglou, William Peranteau, Christopher Porada, Stephan J. Sanders, Teresa N. Sparks, David H. Stitelman, Evi Struble, Charlotte J. Sumner, Tippi C. MacKenzie
Publikováno v:
Journal of clinical pharmacology. 62
We are living in a golden age of medicine in which the availability of prenatal diagnosis, fetal therapy, and gene therapy/editing make it theoretically possible to repair almost any defect in the genetic code. Furthermore, the ability to diagnose ge