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

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

干扰ALADIN结合的NDC1双等位基因变异与神经病变和三A样综合征相关。

Daphne J Smits ,Jordy Dekker ,Hannie Douben ,Rachel Schot ,Helen Magee ,Somayeh Bakhtiari ,Katrin Koehler ,Angela Huebner ,Markus Schuelke ,Hossein Darvish ,Shohreh Vosoogh ,Abbas Tafakhori ,Melika Jameie ,Ehsan Taghiabadi ,Yana Wilson ,Margit Shah ,Marjon A van Slegtenhorst ,Evita G Medici-van den Herik ,Tjakko J van Ham ,Michael C Kruer ,Grazia M S Mancini

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

使用 RNA-seq 识别致病转录本的网络可访问应用程序:提高神经发育障碍诊断的灵敏度

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 N

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

功能性检测结合前体mRNA剪接分析可提高1型神经纤维瘤病和Legius综合征患者的变异分类和诊断水平

Douben, Hannie; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Louwen, Jesse; Haan, Marian Kroos-de; Punt, Mattijs; van Ommeren, Babeth; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; van Bever, Yolande; van Vliet, Margreethe; Oostenbrink, Rianne; Saris, Jasper J; Wagner, Anja; van Ierland, Yvette; van Ham, Tjakko; van Minkelen, Rick

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

通过对表观正常的诊断性DNA检测结果进行皮肤成纤维细胞转录组筛选,可以高效鉴定致病性NF1变异体。

Douben, Hannie C W; Nellist, Mark; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; Hoogeveen-Westerveld, Marianne; Louwen, Jesse; van Veghel-Plandsoen, Monique; de Valk, Walter; Saris, Jasper J; Hendriks, Femke; Korpershoek, Esther; Hoefsloot, Lies H; van Vliet, Margreethe; van Bever, Yolande; van de Laar, Ingrid; Aten, Emmelien; Lachmeijer, Augusta M A; Taal, Walter; van den Bersselaar, Lisa; Schuurmans, Juliette; Oostenbrink, Rianne; van Minkelen, Rick; van Ierland, Yvette; van Ham, Tjakko J

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

通过对DNA诊断不完整的患者进行扩展分析,发现了庞贝病中的新型GAA变异和嵌合现象

In 't Groen, Stijn L M; de Faria, Douglas O S; Iuliano, Alessandro; van den Hout, Johanna M P; Douben, Hannie; Dijkhuizen, Trijnie; Cassiman, David; Witters, Peter; Barba Romero, Miguel-Ángel; de Klein, Annelies; Somers-Bolman, Galhana M; Saris, Jasper J; Hoefsloot, Lies H; van der Ploeg, Ans T; Bergsma, Atze J; Pijnappel, W W M Pim

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

FRAS1相关细胞外基质1 (FREM1) 缺乏会导致人类和小鼠发生先天性膈疝。

Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

钙粘蛋白-连环蛋白复合物 CDH1 和 CTNND1 成员的变异会导致眼睑唇腭裂综合征

Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pitto

Aging of bone marrow- and umbilical cord-derived mesenchymal stromal cells during expansion

骨髓和脐带间充质基质细胞在扩增过程中的老化

Samantha F H de Witte, Eleonora E Lambert, Ana Merino, Tanja Strini, Hannie J C W Douben, Lisa O'Flynn, Steve J Elliman, Annelies J E M M de Klein, Philip N Newsome, Carla C Baan, Martin J Hoogduijn

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

375例食管闭锁和/或气管食管瘘患者的拷贝数变异

Brosens, Erwin; Marsch, Florian; de Jong, Elisabeth M; Zaveri, Hitisha P; Hilger, Alina C; Choinitzki, Vera Gisela; Hölscher, Alice; Hoffmann, Per; Herms, Stefan; Boemers, Thomas M; Ure, Benno M; Lacher, Martin; Ludwig, Michael; Eussen, Bert H; van der Helm, Robert M; Douben, Hannie; Van Opstal, Diane; Wijnen, Rene M H; Beverloo, H Berna; van Bever, Yolande; Brooks, Alice S; IJsselstijn, Hanneke; Scott, Daryl A; Schumacher, Johannes; Tibboel, Dick; Reutter, Heiko; de Klein, Annelies