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

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome

长读长DNA和RNA测序揭示了TCOF1基因内含子中插入逆转录转座子是导致特雷彻·柯林斯综合征的原因。

Ferraro, Federico; Kühn, Nikolas; Rots, Dmitrijs; van der Linde, Herma C; Mohseni, Banin; van Unen, Leontine; Drost, Mark; Nellist, Mark; Koekkoek, Marieke; Schot, Rachel; de Gier, Henriette W; Pleumeekers, Mieke; Barakat, Tahsin Stefan; Kleefstra, Tjitske; Weerts, Marjolein; van Dooren, Marieke F; van Ham, Tjakko J

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

结节性硬化症患者中 TSC1 和 TSC2 的分子和功能评估

Dufner-Almeida Luiz Gustavo, Cardozo Laís F M, Schwind Mariana R, Carvalho Danielly, Almeida Juliana Paula G, Cappellano Andrea Maria, Alegria Thiago G P, Nanhoe Santoesha, Nellist Mark, Passos-Bueno Maria Rita, Chiavegatto Silvana, Silva Nasjla S, Rosemberg Sérgio, Pereira Ana Paula A, Antoniuk Sérgio Antônio, Haddad Luciana A

Association of Blast‐induced Hearing Loss with Progression of Alzheimer’s Disease Pathology

爆炸性听力损失与阿尔茨海默病病理进展的关联

Overwater, Iris E; Swenker, Rob; van der Ende, Emma L; Hanemaayer, Kimberley Bm; Hoogeveen-Westerveld, Marianne; van Eeghen, Agnies M; Lequin, Maarten H; van den Ouweland, Ans Mw; Moll, Henriëtte A; Nellist, Mark; de Wit, Marie-Claire Y; Fotouhi, Maryam; Sheikh‐Bahaei, Nasim; Choupan, Jeiran; Fotouhi, Maryam; Sheikh‐Bahaei, Nasim; Choupan, Jeiran; Kerr, Nadine A; Sangaletti, Rachele; Walters, Winston; Rajguru, Suhrud M

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

对 TSC1 和 TSC2 进行靶向基因组测序,揭示了先前结节性硬化症基因检测结果正常的个体中存在的致病变异。

West, Hannah D; Nellist, Mark; Brouwer, Rutger W W; van den Hout-van Vroonhoven, Mirjam C G N; de Almeida, Luiz Gustavo Dufner; Hendriks, Femke; Elfferich, Peter; Raja, Meera; Giles, Peter; Alfano, Rosa M; Peron, Angela; Sznajer, Yves; De Waele, Liesbeth; Jansen, Anna; Koopmans, Marije; Kievit, Anneke; Farach, Laura S; Northrup, Hope; Sampson, Julian R; Thomas, Laura E; van IJcken, Wilfred F J

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

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

对1型神经纤维瘤病相关认知变异的遗传因素进行研究

Ottenhoff, Myrthe J; Rietman, André B; Mous, Sabine E; Plasschaert, Ellen; Gawehns, Daniela; Brems, Hilde; Oostenbrink, Rianne; van Minkelen, Rick; Nellist, Mark; Schorry, Elizabeth; Legius, Eric; Moll, Henriette A; Elgersma, Ype

Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

一名患有结节性硬化症的患者,因一种新的TSC2错义变异而出现严重出血并发症并接受了多次肾移植。

Živčić-Ćosić, Stela; Mayer, Karin; Đorđević, Gordana; Nellist, Mark; Hoogeveen-Westerveld, Marianne; Miletić, Damir; Rački, Sanjin; Klein, Hanns-Georg; Trobonjača, Zlatko

Regulation of E-cadherin/catenin association by tyrosine phosphorylation

酪氨酸磷酸化对E-钙黏蛋白/连环蛋白结合的调控

Dan, Han C; Sun, Mei; Yang, Lin; Feldman, Richard I; Sui, Xue-Mei; Ou, Chien Chen; Nellist, Mark; Yeung, Raymond S; Halley, Dicky J J; Nicosia, Santo V; Pledger, Warren J; Cheng, Jin Q; Roura, Santiago; Miravet, Susana; Piedra, José; García de Herreros, Antonio; Duñach, Mireia