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

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity

对致病性SATB2错义变异体的功能表征揭示了其对染色质结合和转录活性的不同影响

den Hoed, Joery; Semmekrot, Fleur; Verseput, Jolijn; Dingemans, Alexander J M; Schijven, Dick; Francks, Clyde; Zarate, Yuri A; Fisher, Simon E

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder

SETBP1基因降解子以外的变异会破坏其DNA结合、转录和神经元分化能力,从而导致异质性神经发育障碍。

Wong, Maggie M K; Kampen, Rosalie A; Braden, Ruth O; Alagöz, Gökberk; Hildebrand, Michael S; Dingemans, Alexander J M; Corbally, Jean; den Hoed, Joery; Mendoza, Ezequiel; Claassen, Willemijn J J; Barnett, Christopher; Barnett, Meghan; Brusco, Alfredo; Carli, Diana; de Vries, Bert B A; Elmslie, Frances; Ferrero, Giovanni Battista; Jansen, Nadieh A; van de Laar, Ingrid M B H; Moroni, Alice; Mowat, David; Murray, Lucinda; Novara, Francesca; Peron, Angela; Scheffer, Ingrid E; Sirchia, Fabio; Turner, Samantha J; Vignoli, Aglaia; Vino, Arianna; Weber, Sacha; Chung, Wendy K; Gerard, Marion; López-González, Vanesa; Palmer, Elizabeth; Morgan, Angela T; van Bon, Bregje W; Fisher, Simon E

The NuRD component CHD3 promotes BMP signalling during cranial neural crest cell specification

NuRD 组分 CHD3 在颅神经嵴细胞分化过程中促进 BMP 信号传导。

Zoe H Mitchell ,Joery den Hoed ,Willemijn Claassen ,Martina Demurtas ,Laura Deelen ,Philippe M Campeau ,Karen Liu ,Simon E Fisher ,Marco Trizzino

Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review

多重高通量DNA技术在新生儿疾病筛查和确诊检测中的应用:范围界定综述

Fabella, Terence Diane; den Hoed, Joery; Henneman, Lidewij; Rodenburg, Wendy; Ket, Johannes C F; Schouten, Jan; Sistermans, Erik A

The TOXIN knowledge graph: supporting animal-free risk assessment of cosmetics

TOXIN知识图谱:支持化妆品无动物风险评估

Sepehri, Sara; Heymans, Anja; Win, Dinja De; Maushagen, Jan; Sanctorum, Audrey; Debruyne, Christophe; Rodrigues, Robim M; Kock, Joery De; Rogiers, Vera; Troyer, Olga De; Vanhaecke, Tamara

Current state of the treatment landscape of phenylketonuria

苯丙酮尿症治疗现状

Nulmans, Ine; Lequeue, Sien; Desmet, Liesbeth; Neuckermans, Jessie; De Kock, Joery

The low FODMAP diet in adolescents functional abdominal in a non-guided setting: a prospective multicenter cohort study

低FODMAP饮食对青少年功能性腹膜炎的非指导性干预:一项前瞻性多中心队列研究

Rexwinkel, Robyn; Vermeijden, Nicolaas Koen; Zeevenhooven, Judith; Kelder, Johannes; Groeneweg, Michael; Hummel, Thalia; Goede, Joery; van Wering, Herbert; Stapelbroek, Janneke; Benninga, Marc; Vlieger, Arine

KBTBD13 is an actin-binding protein that modulates muscle kinetics

KBTBD13是一种肌动蛋白结合蛋白,可调节肌肉动力学。

de Winter, Josine M; Molenaar, Joery P; Yuen, Michaela; van der Pijl, Robbert; Shen, Shengyi; Conijn, Stefan; van de Locht, Martijn; Willigenburg, Menne; Bogaards, Sylvia Jp; van Kleef, Esmee Sb; Lassche, Saskia; Persson, Malin; Rassier, Dilson E; Sztal, Tamar E; Ruparelia, Avnika A; Oorschot, Viola; Ramm, Georg; Hall, Thomas E; Xiong, Zherui; Johnson, Christopher N; Li, Frank; Kiss, Balazs; Lozano-Vidal, Noelia; Boon, Reinier A; Marabita, Manuela; Nogara, Leonardo; Blaauw, Bert; Rodenburg, Richard J; Küsters, Benno; Doorduin, Jonne; Beggs, Alan H; Granzier, Henk; Campbell, Ken; Ma, Weikang; Irving, Thomas; Malfatti, Edoardo; Romero, Norma B; Bryson-Richardson, Robert J; van Engelen, Baziel Gm; Voermans, Nicol C; Ottenheijm, Coen Ac

Toward a common interpretation of the 3Rs principles in animal research

探讨动物研究中3R原则的共同解读

Lauwereyns, Jan; Bajramovic, Jeffrey; Bert, Bettina; Camenzind, Samuel; De Kock, Joery; Elezović, Alisa; Erden, Sevilay; Gonzalez-Uarquin, Fernando; Ulman, Yesim Isil; Hoffmann, Orsolya Ivett; Kitsara, Maria; Kostomitsopoulos, Nikolaos; Neuhaus, Winfried; Petit-Demouliere, Benoit; Pollo, Simone; Riso, Brígida; Schober, Sophie; Sotiropoulos, Athanassia; Thomas, Aurélie; Vitale, Augusto; Wilflingseder, Doris; Ahluwalia, Arti

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

关键染色质修饰因子WDR5中杂合错义变异的聚集定义了一种新的神经发育障碍

Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A Micheil; Stumpel, Connie; Õunap, Katrin; Reinson, Karit; Seaby, Eleanor G; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H; Sheppard, Sarah E; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D; Campeau, Philippe M; Millan, Francisca; Taylor, Jesse A; Lochmüller, Hanns; Higgs, Martin R; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J; Schmanski, Andrew A; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E; Kramer, Jamie M; den Hoed, Joery; Fisher, Simon E; Brunner, Han G; Kleefstra, Tjitske