P735: Structural variant analysis unveils loss-of-function promoter deletion in candidate gene WDR44

Autor: Tam Sneddon, Mai Xiong, Kelly Gilmore, Karen Weck, Bradford Powell, Neeta Vora

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101639- (2024)

Externí odkaz: https://doaj.org/article/a442ab21262e49f2bfba2c43b341247f

P813: Experiences of Black pregnant people offered prenatal diagnosis in the setting of fetal anomalies: A qualitative study

Autor: Asha Talati, Karen Sheffield-Abdullah, Aryana Daye, Kelly Gilmore, Marsha Michie, Anne Lyerly, Neeta Vora

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101721- (2024)

Externí odkaz: https://doaj.org/article/4982e8984c35499784705673208eb1cd

P637: Single center experience using single-gene-NIPT to evaluate fetal risk of autosomal recessive conditions

Autor: Asha Talati, Emily Hardisty, Kelly Gilmore, Rachel Veazey, Ginger Hocutt, Smriti Singh, Madeline Dyke, Neeta Vora

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100693- (2023)

Externí odkaz: https://doaj.org/article/794bf07c5acc4306b5baaa8ccd501b49

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Autor: Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen

Publikováno v: van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC

Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302232c268a34e8154eb121a3a262acc
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxK

Provider Attitudes on Regionalization of Maternity Care: A National Survey

Autor: Julian N. Robinson, Sarah Rae Easter, Kelly Gilmore, Jay Schulkin

Publikováno v: Maternal and Child Health Journal. 25:1402-1409

To explore provider perspectives surrounding national guidelines proposing regionalization of maternal care. An 18-item survey focused on provider attitudes and practices surrounding regionalized maternity care was administered to a national sample o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0167a4840969baff0376c6ae6b1d5503
https://doi.org/10.1007/s10995-021-03179-3