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

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

DNA甲基化特征在神经发育障碍常规诊断中的临床应用价值

Smits, Daphne J; Debuy, Christophe; Brooks, Alice S; Schot, Rachel; Ferraro, Federico; Rots, Dmitrijs; Bouman, Arjan; Verhoeven, Virginie J M; Donker Kaat, Laura; Kant, Sarina G; van Bever, Yolande; Demirdas, Serwet; Zeidler, Shimriet; van Dooren, Marieke F; Donze, Stephany H; Hoefsloot, Lies H; van Slegtenhorst, Marjon A; Wilke, Martina; Sleutels, Frank; Drost, Mark; Brüggenwirth, Hennie T; van Minkelen, Rick; Goverde, Anne; Hol, Janna A; van de Laar, Ingrid M B H; van Ierland, Yvette; Kievit, Anneke; van der Schoot, Vyne; Stuurman, Kyra E; Mancini, Grazia M S; Wessels, Marja W; van Ham, Tjakko J; Kleefstra, Tjitske; Barakat, Tahsin Stefan

Identification of the Determinants of Plexiform Neurofibroma Morbidity in Pediatric and Young Adult Neurofibromatosis Type 1 Patients: A Pilot Multivariate Approach

识别儿童和青少年1型神经纤维瘤病患者丛状神经纤维瘤发病率的决定因素:一项初步的多变量方法研究

de Brons, Biagio; Dhaenens, Britt; van Minkelen, Rick; Oostenbrink, Rianne

Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history

GRN基因的两个新变异:拷贝数变异分析和基因筛查在无家族史的额颞叶痴呆患者中的意义

De Houwer, Julie F H; Dopper, Elise G P; Rajicic, Ana; van Buuren, Renee; Arcaro, Marina; Galimberti, Daniela; Breedveld, Guido J; Wilke, Martina; van Minkelen, Rick; Jiskoot, Lize C; van Swieten, John C; Donker Kaat, Laura; Seelaar, Harro

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

AMFR功能障碍会导致人类常染色体隐性遗传性痉挛性截瘫,在临床前模型中,他汀类药物治疗有效。

Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A; van der Linde, Herma C; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T; Ruijter, George J G; Lütjohann, Dieter; Jacobs, Edwin H; Houlden, Henry; Pagnamenta, Alistair T; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H; van Ham, Tjakko J; Issa, Mahmoud; Zaki, Maha S; Gleeson, Joseph G; Willemsen, Rob; Kaya, Namik; Arold, Stefan T; Maroofian, Reza; Sanderson, Leslie E; Barakat, Tahsin Stefan

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

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

致编辑的信,关于 Kaivola 等人 (2020) 的论文:携带两个 C9orf72 六核苷酸重复序列中等长度等位基因与肌萎缩侧索硬化症或额颞叶痴呆无关

de Boer, Sterre C M; Woolley, Lauren; Mol, Merel O; Serpente, Maria; Reus, Lianne M; van Minkelen, Rick; van Vugt, Joke F A; Sorrentino, Federica; Veldink, Jan H; Seelaar, Harro; Galimberti, Daniela; van Ruissen, Fred; Mead, Simon; Rogaeva, Ekaterina; Pijnenburg, Yolande A L; van der Lee, Sven J

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

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

额颞叶痴呆患者颞叶萎缩模式独特,且携带TARDBP基因I383V变异。

Mol, Merel O; Nijmeijer, Sebastiaan W R; van Rooij, Jeroen G J; van Spaendonk, Resie M L; Pijnenburg, Yolande A L; van der Lee, Sven J; van Minkelen, Rick; Donker Kaat, Laura; Rozemuller, Annemieke J M; Janse van Mantgem, Mark R; van Rheenen, Wouter; van Es, Michael A; Veldink, Jan H; Hennekam, Frederic A M; Vernooij, Meike; van Swieten, John C; Cohn-Hokke, Petra E; Seelaar, Harro; Dopper, Elise G P

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