Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Autor: Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A.J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M.E. Suzanne Lewis, Angie Lichty, Marcel M.A.M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema

Publikováno v: Genetics in Medicine, 25, 1, pp. 49-62
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group

Contains fulltext : 290808.pdf (Publisher’s version ) (Open Access) PURPOSE: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e9527bbc3853240983032791841559
https://repository.ubn.ru.nl/handle/2066/290808

When phenotype does not match genotype: importance of 'real-time' refining of phenotypic information for exome data interpretation

Autor: Yael Goldberg, Noa Ruhrman-Shahar, Rivka Sukenik-Halevy, Noy Azulay, Idit Maya, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Lina Basel-Salmon, Ofir Hagari, Nurit Magal, Lily Bazak, Naama Orenstein, Gabriel Arie Lidzbarsky

Publikováno v: Genetics in Medicine. 23:215-221

PURPOSE Clinical data provided to genetic testing laboratories are frequently scarce. Our purpose was to evaluate clinical scenarios where phenotypic refinement in proband's family members might impact exome data interpretation. METHODS Of 614 exomes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2b3326d8a841b2e01325d13fcb434c06
https://doi.org/10.1038/s41436-020-00938-5

Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally

Autor: Amihood Singer, Morad Khayat, Rachel Michaelson-Cohen, Hagit Daum, Lena Sagi-Dain, Keren Tzadikevitch Geffen, Shay Ben-Shachar, Rivka Sukenik Halevy, Michal Feingold-Zadok, Idit Maya

Publikováno v: Archives of Gynecology and Obstetrics. 303:85-92

To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound. The study cohort was based on cases of chromosomal mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a3c0131402b0b5926ab940d26230949
https://doi.org/10.1007/s00404-020-05729-6

Chromosomal Microarray Analysis Compared With Noninvasive Prenatal Testing in Pregnancies With Abnormal Maternal Serum Screening

Autor: Lena Sagi-Dain, Liat Salzer Sheelo, Dana Brabbing-Goldstein, Reut Matar, Sarit Kahana, Ifaat Agmon-Fishman, Cochava Klein, Merav Gurevitch, Lina Basel-Salmon, Idit Maya

Publikováno v: Obstetrics and gynecology. 139(5)

To examine the effect of maternal age on the rate of clinically significant chromosomal microarray analysis results in pregnancies with abnormal maternal serum screening and to establish the residual risk for abnormal microarray findings after omitti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49edebc8631e8a87aff0f7de7225c51
https://pubmed.ncbi.nlm.nih.gov/35576346

What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

Autor: Hagith Yonath, Shlomit Rienstein, Sharon Zeligson, Amihood Singer, Adi Reches, Lena Sagi-Dain, Idit Maya, Shay Ben Shachar

Publikováno v: Acta Obstetricia et Gynecologica Scandinavica. 99:757-764

Introduction Ventricular septal defect (VSD) represents the most common type of congenital cardiac anomaly, affecting more than 1 in 300 live births. The objective of this study was to examine the incidence and nature of abnormal chromosomal microarr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff05eea8d6c169599635fa13e9daa2c
https://doi.org/10.1111/aogs.13708