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

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia

ESRRG基因变异与一种显性遗传的非进行性先天性运动障碍伴共济失调有关。

Bresack, Brandon; Kohl, Laura Renée; Afenjar, Alexandra; Audic, Frédérique; Burglen, Lydie; Charles, Perrine; Dundar, Nihal Olgac; van de Kamp, Jiddeke; Machol, Keren; Magoulas, Pilar; Goze-Martineau, Odile; Motazacker, Mahdi; Philippi, Heike; Reyes, Alejandra; Tutakhel, Omar A Z; Bertoli-Avella, Aida; Sticht, Heinrich; Abou Jamra, Rami; Oppermann, Henry

Welcome to 2025 from EJHG

欢迎来到2025年,来自EJHG

Matthijs, Gert; Dierking, Anna; Schmidtke, Jörg; Van Dijk, Fleur S; Nesbitt, Isabel M; Nikkels, Peter G J; Dalton, Ann; Bongers, Ernie M H F; van de Kamp, Jiddeke M; Hilhorst-Hofstee, Yvonne; Den Hollander, Nicolette S; Lachmeijer, Augusta M A; Marcelis, Carlo L; Tan-Sindhunata, Gita M B; van Rijn, Rick R; Meijers-Heijboer, Hanne; Cobben, Jan M; Pals, Gerard; McNeill, Alisdair

Dodecyl creatine ester therapy: from promise to reality

十二烷基肌酸酯疗法:从承诺到现实

Mabondzo, Aloïse; van de Kamp, Jiddeke; Mercimek-Andrews, Saadet

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis

TMPRSS3 听力损失的自然史和基因型-表型相关性:一项国际多中心队列分析

Colbert, Brett M; Lanting, Cris; Smeal, Molly; Blanton, Susan; Dykxhoorn, Derek M; Tang, Pei-Ciao; Getchell, Richard L; Velde, Hedwig; Fehrmann, Mirthe; Thorpe, Ryan; Chapagain, Prem; Elkhaligy, Heidy; Kremer, Hannie; Yntema, Helger; Haer-Wigman, Lonneke; Redfield, Shelby; Sun, Tieqi; Bruijn, Saskia; Plomp, Astrid; Goderie, Thadé; van de Kamp, Jiddeke; Free, Rolien H; Wassink-Ruiter, Jolien Klein; Widdershoven, Josine; Vanhoutte, Els; Rotteveel, Liselotte; Kriek, Marjolein; van Dooren, Marieke; Hoefsloot, Lies; de Gier, Heriette H W; Schaefer, Amanda; Kolbe, Diana; Azaiez, Hela; Rabie, Grace; Aburayyan, Armal; Kawas, Mariana; Kanaan, Moien; Holder, Jourdan; Usami, Shin-Ichi; Chen, Zhengyi; Dai, Pu; Holt, Jeffrey; Nelson, Rick; Choi, Byung Yoon; Shearer, Eliot; Smith, Richard J H; Pennings, Ronald; Liu, Xue Zhong

SLC26A1 is a major determinant of sulfate homeostasis in humans

SLC26A1 是人类硫酸盐稳态的主要决定因素

Anja Pfau, Karen I López-Cayuqueo, Nora Scherer, Matthias Wuttke, Annekatrin Wernstedt, Daniela González Fassrainer, Desiree Ec Smith, Jiddeke M van de Kamp, Katharina Ziegeler, Kai-Uwe Eckardt, Friedrich C Luft, Peter S Aronson, Anna Köttgen, Thomas J Jentsch, Felix Knauf

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia

SLC13A1硫酸盐转运蛋白基因的双等位基因变异会导致低硫酸血症,并伴有轻度脊椎骨骺干骺端发育不良。

van de Kamp, Jiddeke M; Bökenkamp, Arend; Smith, Desiree E C; Wamelink, Mirjam M C; Jansen, Erwin E W; Struys, Eduard A; Waisfisz, Quinten; Verkleij, Marieke; Hartmann, Michaela F; Wang, Rong; Wudy, Stefan A; Paganini, Chiara; Rossi, Antonio; Finken, Martijn J J

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

第二例谷氨酰胺酶过度活跃病例:癫痫表型扩展

Rumping, Lynne; Pouwels, Petra J W; Wolf, Nicole I; Rehmann, Holger; Wamelink, Mirjam M C; Waisfisz, Quinten; Jans, Judith J M; Prinsen, Hubertus C M T; van de Kamp, Jiddeke M; van Hasselt, Peter M

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

多个组蛋白H4基因中反复出现的新生错义突变是神经发育综合征的根本原因。

Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D; Bicknell, Louise S; van Haaften, Gijs

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing

耳蜗支持细胞需要 GAS2 来维持细胞骨架结构和听觉

Tingfang Chen, Alex M Rohacek, Matthew Caporizzo, Amir Nankali, Jeroen J Smits, Jaap Oostrik, Cornelis P Lanting, Erdi Kücük, Christian Gilissen, Jiddeke M van de Kamp, Ronald J E Pennings, Staci M Rakowiecki, Klaus H Kaestner, Kevin K Ohlemiller, John S Oghalai, Hannie Kremer, Benjamin L Prosser, D

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

组蛋白 H3.3 超越癌症:组蛋白 3 家族 3A 和 3B 的种系突变导致 46 名患者患上一种此前未发现的神经退行性疾病

Laura Bryant, Dong Li, Samuel G Cox, Dylan Marchione, Evan F Joiner, Khadija Wilson, Kevin Janssen, Pearl Lee, Michael E March, Divya Nair, Elliott Sherr, Brieana Fregeau, Klaas J Wierenga, Alexandrea Wadley, Grazia M S Mancini, Nina Powell-Hamilton, Jiddeke van de Kamp, Theresa Grebe, John Dean, Al