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

An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes

一种精确的细胞检测方法,用于确定林奇综合征基因中编码和非编码变异的致病性

Glykofridis, Iris E; Dekker, Marleen; Stoepker, Chantal; van Ravesteyn, Thomas W; Tiersma, Yvonne; van der Ham, Cédric G; de Bruijn, Beaunelle; Ebrahim, Salma; de Menezes, Renée X; Kasteleijn, Esmee; Verheijen, Frans; van Ham, Tjakko J; Te Riele, Hein

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足性脑白质营养不良伴癫痫性脑病。

De Pace, Raffaella; Dominguez Gonzalez, Carlos A; Williamson, Chad D; Helman, Guy; Sanderson, Leslie E; Disanza, Brianna; Hsiao-Sánchez, Nicole; Pizzino, Amy; Muirhead, Kayla; Bonkowsky, Joshua L; Taft, Ryan J; Sannaa, Nouriya A; Dias, Patricia; Quintas, Ana Sofia; Mutlu, Mehmet Burak; Bas, Hasan; Oztürk, Hasan; Mojarrad, Majid; Alerasool, Masoome; Sheikhani, Shahriar; Jabbar, Hayder Kadhim; Issa, Awatif Hameed; Houlden, Henry; Zonic, Emir; Barakat, Tahsin Stefan; Tripolski, Kornelia; Romito, Antonio; Teferedegn, Eden; Vossough, Arastoo; Whitehead, Matthew T; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Simons, Cas; Wolvetang, Ernst; van Ham, Tjakko J; Bertoli-Avella, Aida M; Maroofian, Reza; Bonifacino, Juan S; Vanderver, Adeline

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature

通过临床RNA测序和文献回顾,诊断出两名患有CCDC32相关心脏面神经发育综合征的兄弟姐妹。

Albuainain, Fatimah; Venema, Myrrhe; Schot, Rachel; Huigen, Gideon; Mancini, Grazia M S; van Ham, Tjakko J; Barakat, Tahsin Stefan

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

纳米孔长读长测序技术可帮助危重病人实现超快速诊断和紧急临床决策。

Smits, Daphne J; Ferraro, Federico; Drost, Mark; van der Linde, Herma C; de Graaf, Bianca M; van Bever, Yolande; Brooks, Alice S; Bardina, Livija; Brüggenwirth, Hennie T; Debuy, Christophe; Donker Kaat, Laura; van Dijk, Bastiaan T; van Engelen, Nienke; Geeven, Geert; van de Graaf, Raoul; van Haaften-Visser, Désirée Y; van Hasselt, Peter M; Heijsman, Daphne; Hendriks, Yvonne M C; Hitti-Malin, Rebekkah J; Hoefsloot, Lies H; Huijbregts, Glenn; IJspeert, Hanna; Lamballais, Sander; Mijalkovic, Jona; Mol, Merel O; Nawawi, Diënna; Nederpelt, Nadine; Nibbeling, Esther A R; Te Rijdt, Wouter; Schot, Rachel; van Slegtenhorst, Marjon; Sleutels, Frank; Ulenkate, Eva L M; Van Veghel-Plandsoen, Monique; Verhagen, Judith M A; Vos, David; Wauters, Erwin; Wilke, Martina; Sylva, Marc; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kleefstra, Tjitske; Rots, Dmitrijs; Verhoeven, Virginie J M

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

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

The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development

非经典硫还原酶Tmx2b对于斑马鱼胚胎脑发育过程中神经元的存活至关重要

Dekker, Jordy; Lam, Wendy; van der Linde, Herma C; Ophorst, Floris; de Konink, Charlotte; Schot, Rachel; Kremers, Gert-Jan; Sanderson, Leslie E; Berdowski, Woutje M; van Woerden, Geeske M; Mancini, Grazia M S; van Ham, Tjakko J

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足性脑白质营养不良伴癫痫性脑病。

De Pace, Raffaella; Gonzalez, Carlos Dominguez; Williamson, Chad D; Helman, Guy; Sanderson, Leslie E; Disanza, Brianna; Hsiao-Sánchez, Nicole; Pizzino, Amy; Muirhead, Kayla; Bonkowsky, Joshua L; Taft, Ryan J; Sannaa, Nouriya A; Dias, Patricia; Quintas, Ana Sofia; Mutlu, Mehmet Burak; Bas, Hasan; Oztürk, Hasan; Mojarrad, Majid; Alerasool, Masoome; Sheikhani, Shahriar; Jabbar, Hayder Kadhim; Issa, Awatif Hameed; Houlden, Henry; Zonic, Emir; Barakat, Tahsin Stefan; Tripolski, Kornelia; Romito, Antonio; Teferedegn, Eden; Vossough, Arastoo; Whitehead, Matthew T; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Simons, Cas; Wolvetang, Ernst; van Ham, Tjakko J; Bertoli-Avella, Aida M; Maroofian, Reza; Bonifacino, Juan S; Vanderver, Adeline