Literature DB >> 32318731

Predicting incidences of neurodevelopmental disorders.

Johannes R Lemke1.   

Abstract

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Mesh:

Year:  2020        PMID: 32318731     DOI: 10.1093/brain/awaa079

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  3 in total

1.  Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Authors:  Sarah E M Stephenson; Gregory Costain; Laura E R Blok; Michael A Silk; Thanh Binh Nguyen; Xiaomin Dong; Dana E Alhuzaimi; James J Dowling; Susan Walker; Kimberly Amburgey; Robin Z Hayeems; Lance H Rodan; Marc A Schwartz; Jonathan Picker; Sally A Lynch; Aditi Gupta; Kristen J Rasmussen; Lisa A Schimmenti; Eric W Klee; Zhiyv Niu; Katherine E Agre; Ilana Chilton; Wendy K Chung; Anya Revah-Politi; P Y Billie Au; Christopher Griffith; Melissa Racobaldo; Annick Raas-Rothschild; Bruria Ben Zeev; Ortal Barel; Sebastien Moutton; Fanny Morice-Picard; Virginie Carmignac; Jenny Cornaton; Nathalie Marle; Orrin Devinsky; Chandler Stimach; Stephanie Burns Wechsler; Bryan E Hainline; Katie Sapp; Marjolaine Willems; Ange-Line Bruel; Kerith-Rae Dias; Carey-Anne Evans; Tony Roscioli; Rani Sachdev; Suzanna E L Temple; Ying Zhu; Joshua J Baker; Ingrid E Scheffer; Fiona J Gardiner; Amy L Schneider; Alison M Muir; Heather C Mefford; Amy Crunk; Elizabeth M Heise; Francisca Millan; Kristin G Monaghan; Richard Person; Lindsay Rhodes; Sarah Richards; Ingrid M Wentzensen; Benjamin Cogné; Bertrand Isidor; Mathilde Nizon; Marie Vincent; Thomas Besnard; Amelie Piton; Carlo Marcelis; Kohji Kato; Norihisa Koyama; Tomoo Ogi; Elaine Suk-Ying Goh; Christopher Richmond; David J Amor; Jessica O Boyce; Angela T Morgan; Michael S Hildebrand; Antony Kaspi; Melanie Bahlo; Rún Friðriksdóttir; Hildigunnur Katrínardóttir; Patrick Sulem; Kári Stefánsson; Hans Tómas Björnsson; Simone Mandelstam; Manuela Morleo; Milena Mariani; Marcello Scala; Andrea Accogli; Annalaura Torella; Valeria Capra; Mathew Wallis; Sandra Jansen; Quinten Weisfisz; Hugoline de Haan; Simon Sadedin; Sze Chern Lim; Susan M White; David B Ascher; Annette Schenck; Paul J Lockhart; John Christodoulou; Tiong Yang Tan
Journal:  Am J Hum Genet       Date:  2022-04-07       Impact factor: 11.043

2.  Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.

Authors:  Xu Wang; Di Cui; Changhong Ding; Chunhong Chen; Xiaohui Wang; Fang Fang; Hong Jin; Xiaotun Ren
Journal:  Genes (Basel)       Date:  2022-05-19       Impact factor: 4.141

3.  Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

Authors:  Ana Santos-Gómez; Federico Miguez-Cabello; Natalia Juliá-Palacios; Deyanira García-Navas; Víctor Soto-Insuga; Juan J García-Peñas; Patricia Fuentes; Salvador Ibáñez-Micó; Laura Cuesta; Ramón Cancho; Patricia Andreo-Lillo; Gema Gutiérrez-Aguilar; Olga Alonso-Luengo; Ignacio Málaga; Antonio Hedrera-Fernández; Àngels García-Cazorla; David Soto; Mireia Olivella; Xavier Altafaj
Journal:  Int J Mol Sci       Date:  2021-11-23       Impact factor: 5.923

  3 in total

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