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

Optimized ChIP-exo for mammalian cells and patterned sequencing flow cells

针对哺乳动物细胞和模式化测序流动槽优化的 ChIP-exo 实验

James, Daniela Q; Mukherjee, Sohini; Cannon, C Caiden; Mahony, Shaun

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

A PDLIM7 Variant in Familial Mitral Valve Prolapse: A Case Series

家族性二尖瓣脱垂中的PDLIM7变异:病例系列

van Wijngaarden, Aniek L; Koopmann, Tamara T; Ruivenkamp, Claudia A L; Wu, Hoi W; Ajmone Marsan, Nina; Barge-Schaapveld, Daniela Q C M

Optimized ChIP-exo for mammalian cells and patterned sequencing flow cells.

针对哺乳动物细胞和模式化测序流动池优化的 ChIP-exo

James Daniela Q, Mukherjee Sohini, Cannon C Caiden, Mahony Shaun

Germline variant affecting p53β isoforms predisposes to familial cancer

影响 p53β 亚型的生殖细胞变异会导致家族性癌症

Stephanie A Schubert, Dina Ruano, Sebastien M Joruiz, Jordy Stroosma, Nikolina Glavak, Anna Montali, Lia M Pinto, Mar Rodríguez-Girondo, Daniela Q C M Barge-Schaapveld, Maartje Nielsen, Bernadette P M van Nesselrooij, Arjen R Mensenkamp, Monique E van Leerdam, Thomas H Sharp, Hans Morreau, Jean-Chri

Accurate allocation of multimapped reads enables regulatory element analysis at repeats

精确分配多重比对的reads可以对重复序列处的调控元件进行分析。

Morrissey, Alexis; Shi, Jeffrey; James, Daniela Q; Mahony, Shaun

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants

非典型早衰症主要表现为早发性心脏瓣膜疾病,与LMNA基因变异相关

Wu, Hoi W; Van de Peppel, Ivo P; Rutten, Julie W; Jukema, J Wouter; Aten, Emmelien; Jazet, Ingrid M; Koopmann, Tamara T; Barge-Schaapveld, Daniela Q C M; Ajmone Marsan, Nina

Lessons from a lethal prolongation

从致命延长事件中吸取的教训

Buiten, Maurits S; Egorova, Anastasia D; Barge-Schaapveld, Daniela Q C M; Piers, Sebastiaan R D

The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview

表观特发性室颤的遗传基础:回顾性概述

Verheul, Lisa M; van der Ree, Martijn H; Groeneveld, Sanne A; Mulder, Bart A; Christiaans, Imke; Kapel, Gijs F L; Alings, Marco; Bootsma, Marianne; Barge-Schaapveld, Daniela Q C M; Balt, Jippe C; Yap, Sing-Chien; Krapels, Ingrid P C; Ter Bekke, Rachel M A; Volders, Paul G A; van der Crabben, Saskia N; Postema, Pieter G; Wilde, Arthur A M; Dooijes, Dennis; Baas, Annette F; Hassink, Rutger J

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

变异位点是导致致心律失常性心肌病患者的新型风险因素,该病由桥粒蛋白(DSP)截断变异引起

Hoorntje, Edgar T; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N; Te Meerman, Gerard J; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D; Barge-Schaapveld, Daniela Q C M; van den Berg, Maarten P; Bootsma, Marianne; Bosman, Laurens P; Correnti, Gemma; Duflou, Johan; Eppinga, Ruben N; Fatkin, Diane; Fietz, Michael; Haan, Eric; Jongbloed, Jan D H; Hauer, Arnaud D; Lam, Lien; van Lint, Freyja H M; Lota, Amrit; Marcelis, Carlo; McCarthy, Hugh J; van Mil, Anneke M; Oldenburg, Rogier A; Pachter, Nicholas; Planken, R Nils; Reuter, Chloe; Semsarian, Christopher; van der Smagt, Jasper J; Thompson, Tina; Vohra, Jitendra; Volders, Paul G A; van Waning, Jaap I; Whiffin, Nicola; van den Wijngaard, Arthur; Amin, Ahmad S; Wilde, Arthur A M; van Woerden, Gijs; Yeates, Laura; Zentner, Dominica; Ashley, Euan A; Wheeler, Matthew T; Ware, James S; van Tintelen, J Peter; Ingles, Jodie