日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

对潜在剪接变体进行常规的基于RNA的分析有助于基因组诊断,并揭示计算机预测工具的局限性。

Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C W; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B R; Hollink, Iris R; Meerstein-Kessel, Lisette; Hoefsloot, Lies H; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J A; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W; Verheijen-Mancini, Grazia M; van de Laar, Ingrid M B H; Kievit, Anneke J A; Verhagen, Judith M A; Stuurman, Kyra E; Donker Kaat, Laura; van Dooren, Marieke F; Wessels, Marja W; Oldenburg, Rogier A; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J M; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J; Saris, Jasper J; Nellist, Mark; van Ham, Tjakko J

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling

1型神经纤维瘤病胚胎植入前遗传学检测:分子遗传学方面及其对生育咨询的影响

Vernimmen, V; De Rycke, M; Moutou, C; Dreesen, J; Blok, M J; van Minkelen, R; Lauer-Zillhardt, J; Verdyck, P; Keymolen, K; van Uum, C; Homminga, I; Brandts, L; Stumpel, C T R M; Coonen, E; Heijligers, M; van Zelst-Stams, W; Zamani Esteki, M; van den Wijngaard, A; de Die-Smulders, C E M; Paulussen, A D C

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I

GHSR功能缺失变异与身材矮小和低IGF-I相关

Punt, Lauren D; Kooijman, Sander; Mutsters, Noa J M; Yue, Kaiming; van der Kaay, Daniëlle C M; van Tellingen, Vera; Bakker-van Waarde, Willie M; Boot, Annemiek M; van den Akker, Erica L T; van Boekholt, Anneke A; de Groote, Kirsten; Kruijsen, Anne R; van Nieuwaal-van Maren, Nancy H G; Woltering, M Claire; Heijligers, Malou; van der Heyden, Josine C; Bannink, Ellen M N; Rinne, Tuula; Hannema, Sabine E; de Waal, Wouter J; Delemarre, Lucia C; Rensen, Patrick C N; de Bruin, Christiaan; van Duyvenvoorde, Hermine A; Visser, Jenny A; Delhanty, Patric J D; Losekoot, Monique; Wit, Jan M; Joustra, Sjoerd D

Preimplantation genetic testing for cardiomyopathies: a case series illustrating the clinical and technological perspective

心肌病植入前基因检测:病例系列阐述其临床和技术前景

Faassen, Isa M E; Heijligers, Malou; Weijermans, Nadine H N; van Buul-van Zwet, Marianne L; Zietse, Carlijn S; Zamani Esteki, Masoud; Paulussen, Aimee D C; Verdonschot, Job A J

Artificial intelligence-simplified information to advance reproductive genetic literacy and health equity

利用人工智能简化信息,以提升生殖遗传学素养和促进健康公平。

Naghdi, Marjan; Cao, Ping; Essers, Rick; Heijligers, Malou; Paulussen, Aimee D C; van der Lugt, Arie; Ruiter, Robert A C; van Zelst-Stams, Wendy A G; Salumets, Andres; Zamani Esteki, Masoud

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases

遗传性心脏病胚胎植入前基因检测临床指南

Verdonschot, Job A J; Hellebrekers, Debby M E I; van Empel, Vanessa P M; Heijligers, Malou; de Munnik, Sonja; Coonen, Edith; Dreesen, Jos C M F; van den Wijngaard, Arthur; Brunner, Han G; Zamani Esteki, Masoud; Heymans, Stephane R B; de Die-Smulders, Christine E M; Paulussen, Aimée D C

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

荷兰对唇裂、牙槽裂和/或腭裂(非综合征型)患者进行诊断性基因组检测

Wurfbain, Lisca Florence; Cox, Inge Lucia; van Dooren, Maria Francisca; Lachmeijer, Augusta Maria Antonia; Verhoeven, Virginie Johanna Maria; van Hagen, Johanna Maria; Heijligers, Malou; Klein Wassink-Ruiter, Jolien Sietske; Koene, Saskia; Maas, Saskia Mariska; Veenstra-Knol, Hermine Elisabeth; Ploos van Amstel, Johannes Kristian; Massink, Maarten Pieter Gerrit; Mink van der Molen, Aebele Barber; van den Boogaard, Marie-José Henriette