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Nature Medicine|July 21, 2026
Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathyOlivia Kim-McManus, Laurence Mignon, Julie Douville, et al.European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.Journal of Medical Genetics|October 7, 2019
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephalyShereen Georges Ghosh, Lu Wang, Martin W Breuss, et al.Human Molecular Genetics|August 15, 2019
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsyCristiana Pelorosso, Françoise Watrin, Valerio Conti, et al.American Journal of Human Genetics|July 9, 2016
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive MicrocephalyMartin W Breuss, Tipu Sultan, Kiely N James, et al.Plos Genetics|April 18, 2013
Drosophila DJ-1 decreases neural sensitivity to stress by negatively regulating Daxx-like protein through dFOXOSoojin Hwang, Saera Song, Yoon Ki Hong, et al.Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.Biorxiv : the Preprint Server for Biology|October 10, 2024
Genomic mosaicism reveals developmental organization of trunk neural crest-derived gangliaKeng Ioi Vong, Yanina D Alvarez, Geoffroy Noel, et al.Nature Biotechnology|January 2, 2023
Control-independent mosaic single nucleotide variant detection with DeepMosaicXiaoxu Yang, Xin Xu, Martin W Breuss, et al.Human Molecular Genetics|December 26, 2016
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityMartin W Breuss, Thai Nguyen, Anjana Srivatsan, et al.Pageof 31