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Plos Genetics|May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopiaErin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.Annals of Neurology|May 4, 2010
Developmental and degenerative features in a complicated spastic paraplegiaM Chiara Manzini, Anna Rajab, Thomas M Maynard, et al.Cell|March 19, 2024
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytesJavier Ganz, Lovelace J Luquette, Sara Bizzotto, et al.Nature Genetics|June 19, 2019
Recessive gene disruptions in autism spectrum disorderRyan N Doan, Elaine T Lim, Silvia De Rubeis, et al.Genes & Development|March 5, 2015
Control of a neuronal morphology program by an RNA-binding zinc finger protein, UnkemptJernej Murn, Kathi Zarnack, Yawei J Yang, et al.Human Molecular Genetics|June 14, 2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsStefania Di Costanzo, Anuradha Balasubramanian, Heather L Pond, et al.Scientific Reports|August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorderKlaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.European Journal of Human Genetics : EJHG|August 20, 2021
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disabilityNatja Haag, Ene-Choo Tan, Matthias Begemann, et al.Proceedings of the National Academy of Sciences of the United States of America|June 12, 2020
Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brainAugust Yue Huang, Pengpeng Li, Rachel E Rodin, et al.Nature Genetics|March 20, 2019
Linked-read analysis identifies mutations in single-cell DNA-sequencing dataCraig L Bohrson, Alison R Barton, Michael A Lodato, et al.Pageof 34