Online First

January 15, 2021

January 13, 2021

January 12, 2021

January 04, 2021

December 21, 2020

December 15, 2020

  • Cognitive and behavioural genetics
    Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
    Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco
  • Genotype-phenotype correlations
    Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
    Xiaoshan Tang, Cuihua Liu, Xiaorong Liu, Jing Chen, Xiaoyan Fan, Jialu Liu, Duan Ma, Guanghai Cao, Zhi Chen, Daliang Xu, Ying Zhu, Xiaoyun Jiang, Lizhi Cheng, Yubing Wu, Ling Hou, Yuhong Li, Xiaoshan Shao, Shasha Zheng, Aihua Zhang, Bixia Zheng, Shan Jian, Zanhua Rong, Qingxiao Su, Xia Gao, Jia Rao, Qian Shen, Hong Xu, Chinese Children Genetic Kidney Disease Database (CCGKDD) “Internet Plus” Nephrology Alliance of the National Center for Children’s Care

December 14, 2020

December 03, 2020

November 30, 2020

November 23, 2020

November 20, 2020

November 18, 2020

November 16, 2020

November 10, 2020

  • Functional genomics
    Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
    Pasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia ur Rahman, Faisal Zafar, Nuzhat Rana, Fatima Rahman, Najwa Anwar, Shazia Maqbool, Maha S Zaki, Joseph G Gleeson, David Murphy, Hamid Galehdari, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, SYNAPS Study Group, Gaetan Lesca, Nicolas Chatron, Vincenzo Salpietro, Marilena Christoforou, Henry Houlden, William F Simonds, Thierry Pedrazzini, Reza Maroofian, Alexandre Reymond

November 09, 2020

October 28, 2020

October 26, 2020

October 16, 2020

October 15, 2020

October 13, 2020

September 29, 2020

September 25, 2020

September 22, 2020

September 17, 2020

September 16, 2020

September 11, 2020

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