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

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

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

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

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Vrijenhoek, Terry; Kraaijeveld, Ken; Elferink, Martin; de Ligt, Joep; Kranendonk, Elcke; Santen, Gijs; Nijman, Isaac J; Butler, Derek; Claes, Godelieve; Costessi, Adalberto; Dorlijn, Wim; van Eyndhoven, Winfried; Halley, Dicky J J; van den Hout, Mirjam C G N; van Hove, Steven; Johansson, Lennart F; Jongbloed, Jan D H; Kamps, Rick; Kockx, Christel E M; de Koning, Bart; Kriek, Marjolein; Deprez, Ronald Lekanne Dit; Lunstroo, Hans; Mannens, Marcel; Mook, Olaf R; Nelen, Marcel; Ploem, Corrette; Rijnen, Marco; Saris, Jasper J; Sinke, Richard; Sistermans, Erik; van Slegtenhorst, Marjon; Sleutels, Frank; van der Stoep, Nienke; van Tienhoven, Marianne; Vermaat, Martijn; Vogel, Maartje; Waisfisz, Quinten; Weiss, Janneke Marjan; van den Wijngaard, Arthur; van Workum, Wilbert; Ijntema, Helger; van der Zwaag, Bert; van IJcken, Wilfred F J; den Dunnen, Johan T; Veltman, Joris A; Hennekam, Raoul; Cuppen, Edwin; Cserni, Gábor; Papp, Eszter; Járay, Balázs; Kálmán, Endre; Krenács, Tibor; Tóth, Erika; Török, Miklós; Udvarhelyi, Nóra; Vörös, András; Kulka, Janina

BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing

通过临床RNA测序诊断BRCC3相关综合征型烟雾病

Venema, Myrrhe; Albuainain, Fatimah; Schot, Rachel; Roozenbeek, Bob; Sleutels, Frank; van Ham, Tjakko; Barakat, Tahsin Stefan

Mechanisms of extracellular electron transfer in anaerobic methanotrophic archaea

厌氧甲烷氧化古菌胞外电子传递机制

Ouboter, Heleen T; Mesman, Rob; Sleutels, Tom; Postma, Jelle; Wissink, Martijn; Jetten, Mike S M; Ter Heijne, Annemiek; Berben, Tom; Welte, Cornelia U

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

丝氨酸/苏氨酸激酶 NEK8 激酶结构域中的某些杂合变异可导致常染色体显性多囊肾病

Laura R Claus, Chuan Chen, Jennifer Stallworth, Joshua L Turner, Gisela G Slaats, Alexandra L Hawks, Holly Mabillard, Sarah R Senum, Sujata Srikanth, Heather Flanagan-Steet, Raymond J Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjak

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

神经发育障碍中的新生 MCM6 变异:与锌结合残基相关的可识别表型

Daphne J Smits, Rachel Schot, Cristiana A Popescu, Kerith-Rae Dias, Lesley Ades, Lauren C Briere, David A Sweetser, Itaru Kushima, Branko Aleksic, Suliman Khan, Vasiliki Karageorgou, Natalia Ordonez, Frank J G T Sleutels, Daniëlle C M van der Kaay, Christine Van Mol, Hilde Van Esch, Aida M Bertoli-A

Expecting the unexpected: a review of learning under uncertainty across development

预料之外:对发展过程中不确定性下的学习进行回顾

Topel, Selin; Ma, Ili; Sleutels, Jan; van Steenbergen, Henk; de Bruijn, Ellen R A; van Duijvenvoorde, Anna C K