What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

Autor: Laura J. C. M. van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal, Malgorzata I. Srebniak

Publikováno v: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-8 (2023)

Abstract Background Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT) in ca

Externí odkaz: https://doaj.org/article/573fec928f5943d997613f1736ffc140

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Autor: Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M.A. van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L.T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J.M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen-Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham

Publikováno v: American Journal of Human Genetics, 110(2), 251-272. Cell Press

For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic diagnosis in NDDs. Transcriptome analysis (RNA sequencing [RNA-seq])

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e91c5b19bb7b0e62a630a2aed65e87
https://doi.org/10.1016/j.ajhg.2022.12.015

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

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

Autor: Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak

Publikováno v: Application of Clinical Genetics, 16, 89-97. Dove Medical Press Ltd.
Diderich, K E M, Klapwijk, J E, van der Schoot, V, Brüggenwirth, H T, Joosten, M & Srebniak, M I 2023, ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ', Application of Clinical Genetics, vol. 16, pp. 89-97 . https://doi.org/10.2147/TACG.S411185

Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak Department of Clinical Genetics, Erasmus MC, Rotterdam, the NetherlandsCorrespondence: Karin EM Diderich, Department of Clini

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b502c0b657e9ec63ddb24277ef76ef1
https://pure.eur.nl/en/publications/98cb4be3-582a-4608-b9da-8e591fa1f537

Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go?

Autor: Diane Van Opstal, Merryn V. E. Macville, Marjan Boter, Fernanda Sarquis Jehee, Shama Bhola, Malgorzata I. Srebniak, Robert van der Helm, Erik A. Sistermans, Nicolette S. den Hollander, Els Voorhoeve, Mariëtte J.V. Hoffer, Marieke Joosten, Walter G. de Valk

Publikováno v: Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. WILEY
Srebniak, M I, Jehee, F S, Joosten, M, Boter, M, de Valk, W G, van der Helm, R, Sistermans, E A, Voorhoeve, E, Bhola, S, Hoffer, M J V, den Hollander, N, Macville, M V E & van Opstal, D 2021, ' Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? ', Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 11, pp. 2036-2043 . https://doi.org/10.1111/aogs.14256, https://doi.org/10.1111/aogs.14256
Acta Obstetricia et Gynecologica Scandinavica

Introduction: The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate wheth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26adf92fc5ff9fc236e95ef8a51ce39c
https://doi.org/10.1111/aogs.14256