Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Bridget C O'Connor"'
Autor:
Shane C Quinonez, Bridget C O'Connor, Michelle F Jacobs, Atnafu Mekonnen Tekleab, Ayalew Marye, Delayehu Bekele, Beverly M Yashar, Erika Hanson, Abate Yeshidinber, Getahun Wedaje
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0255278 (2021)
BackgroundOver the past two decades non-communicable diseases (NCDs) have steadily increased as a cause of worldwide disability and mortality with a concomitant decrease in disease burden from communicable, maternal, neonatal and nutritional conditio
Externí odkaz:
https://doaj.org/article/5777e7f451944c409f15e9cba94845b1
Autor:
Sara M. Berger, Paul S. Appelbaum, Karolynn Siegel, Julia Wynn, Akilan M. Saami, Elly Brokamp, Bridget C. O’Connor, Rizwan Hamid, Donna M. Martin, Wendy K. Chung
Publikováno v:
Genetics in Medicine. 24:1878-1887
The knowledge used to classify genetic variants is continually evolving, and the classification can change on the basis of newly available data. Although up-to-date variant classification is essential for clinical management, reproductive planning, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d362a507d1f8b76c1f3c2a8aa16672
https://doi.org/10.1016/j.gim.2022.06.002
https://doi.org/10.1016/j.gim.2022.06.002
Autor:
Paul S. Appelbaum, Sara M. Berger, Elly Brokamp, Henry Shelton Brown, Wylie Burke, Ellen Wright Clayton, Barbara J. Evans, Rizwan Hamid, Gary E. Marchant, Donna M. Martin, Bridget C. O’Connor, José A. Pagán, Erik Parens, Jessica L. Roberts, John Rowe, John Schneider, Karolynn Siegel, David L. Veenstra, Wendy K. Chung
Publikováno v:
Genetics in Medicine. 25:100801
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::67d8b667922da697ca7744024d51bab9
https://doi.org/10.1016/j.gim.2023.100801
https://doi.org/10.1016/j.gim.2023.100801
Autor:
Delayehu Bekele, Atnafu Mekonnen Tekleab, Bridget C. O’Connor, Erika Hanson, Michelle F. Jacobs, Shane C. Quinonez, Abate Yeshidinber Weldetsadik
Publikováno v:
Journal of Genetic Counseling. 30:544-552
Previous work at St. Paul's Hospital Millennium Medical College (SPHMMC) in Addis Ababa, Ethiopia, demonstrated a need for genetic counseling (GC) services, with 4% of pediatric, neonatal intensive care, and prenatal patients identified as having ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d815d814bccae7c3ede0e3b933d52e
https://doi.org/10.1002/jgc4.1340
https://doi.org/10.1002/jgc4.1340
Autor:
Megan Glassford, Jeffrey W. Innis, Donna M. Martin, Shane C. Quinonez, John A. Bernat, Stephanie L. Bielas, Rachel Fisher, Ayesha Ahmad, Catherine E. Keegan, Mark N. Ziats, Lauren Turner, Nicholas L Harris, Lauren Seemann, Tessa B Marzulla, Jacob D Ogle, Mark C. Hannibal, Natasha E. Weiser, Kristen N. Lee, Joseph E. Jacher, Bridget C. O’Connor
Publikováno v:
Pediatric research
BACKGROUND As clinical exome sequencing (CES) becomes more common, understanding which patients are most likely to benefit and in what manner is critical for the general pediatrics community to appreciate. METHODS Five hundred and twenty-three patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a8dc2c7b352111b242e0b8cc8789c8e
http://europepmc.org/articles/PMC7082194
http://europepmc.org/articles/PMC7082194
Autor:
Ceren Sucularli, James S. White, Hande Kocak, Bridget C. O’Connor, Peedikayil E. Thomas, Catherine E. Keegan
Publikováno v:
Gene. 679:219-231
In mammalian cells TPP1, encoded by the Acd gene, is a key component of the Shelterin complex, which is required for telomere length maintenance and telomere protection. In mice, a hypomorphic mutation in Acd causes the adrenocortical dysplasia (acd)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bad62dbb8e49e7b9a925ef828480f18
https://doi.org/10.1016/j.gene.2018.09.002
https://doi.org/10.1016/j.gene.2018.09.002
Autor:
Getahun Wedaje, Abate Yeshidinber, Michelle F. Jacobs, Bridget C. O’Connor, Erika Hanson, Ayalew Marye, Beverly M. Yashar, Delayehu Bekele, Atnafu Mekonnen Tekleab, Shane C. Quinonez
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0255278 (2021)
PLoS ONE
PLoS ONE
BackgroundOver the past two decades non-communicable diseases (NCDs) have steadily increased as a cause of worldwide disability and mortality with a concomitant decrease in disease burden from communicable, maternal, neonatal and nutritional conditio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fb6b7604335f527c820ffc26585fd1f
https://doaj.org/article/5777e7f451944c409f15e9cba94845b1
https://doaj.org/article/5777e7f451944c409f15e9cba94845b1
Publikováno v:
Journal of genetic counselingREFERENCES. 28(6)
Optimizing exome sequencing (ES) utility requires effective communication and collaboration between primary care physicians (PCPs) and genetics healthcare providers (GHP). To explore how PCPs use ES results to coordinate multipart management plans fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbc34d6ae7f1d21b87ceaf642dbf2aaa
https://pubmed.ncbi.nlm.nih.gov/31469212
https://pubmed.ncbi.nlm.nih.gov/31469212
Autor:
Sara Halbach, Mark C. Hannibal, David B. Beck, Amber Begtrup, Bridget C. O’Connor, Darrel Waggoner, Carin Yates, Yufeng Shen, Marwan Shinawi, Brad Angle, Kyle Retterer, Wendy K. Chung, Victoria R. Sanders, Renkui Bai, Anne M. Connolly, Megan T. Cho, Francisca Millan
Publikováno v:
neurogenetics. 17:173-178
Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with similar phenotypes of d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::436be41d0d1a6d3ce58809dc593fdfa7
https://doi.org/10.1007/s10048-016-0482-4
https://doi.org/10.1007/s10048-016-0482-4
Autor:
Lim Jiin Yin, Beth Martin, Mark J. Stephan, Mariana Aracena, Cynthia J. Curry, Inge Krägeloh-Mann, Karen W. Gripp, Koenraad Devriendt, Michael Painter, Livia Garavelli, William B. Dobyns, Rachel Straussberg, Agustina Lanoel, Marie-Claude Addor, Margaret L. McKinnon, Luigi Boccuto, John Graham, Katrina Tatton-Brown, James D. Reggin, Jay Shendure, Colin C. Pritchard, Charles E. Schwartz, Mary Ella M Pierpont, Ian A. Glass, Fiona Stewart, Sulagna C. Saitta, Angeline Hwei Meeng Lai, Evan A. Boyle, Erin Torti, Anne Goriely, Michael T. Gabbett, Melanie Napier, Nicole Martin, Melissa T. Carter, Lisa Worgan, Renzo Guerrini, Katta M. Girisha, Ghayda M. Mirzaa, Chitra Prasad, Rachael Bradshaw, Leah W. Burke, Martin Kircher, Hulya Kayserilli, Andrew E. Timms, Jane Juusola, Karen D. Tsuchiya, Catherine E. Keegan, Robert L. Conway, David Chitayat, Kaylee Park, Hilde Van Esch, Aditi Shah Parikh, Maria R. Cordisco, Valerio Conti, Sondhya Ghedia, Raoul C.M. Hennekam, Sarah Collins, Bridget C. O’Connor, Stephen R. Braddock, Carissa Olds
Publikováno v:
JCI insight, vol. 1, no. 9, pp. 18p.
JCI insight, 1(9). The American Society for Clinical Investigation
Paediatrics Publications
JCI Insight
JCI insight, 1(9). The American Society for Clinical Investigation
Paediatrics Publications
JCI Insight
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vasc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e277962199864ba9a67d6d7a87cffb7
https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29
https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29
