Damir Musaev

Brd4 and P300 Confer Transcriptional Competency during Zygotic Genome Activation

Shun Hang Chan, Yin Tang, Liyun Miao et al. · Developmental Cell · 2019 · 170 citations · Full text

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Martin W. Breuss, Danny Antaki, Renee D. George et al. · Nature Medicine · 2019 · 104 citations · Full text

Infertility, Andrology, Developmental Biology +13

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 101 citations · Full text

Myelin Development, Myelin Sheath, Neurodegenerative Diseases +15

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens et al. · Nature Genetics · 2017 · 99 citations · Full text

Biology, Biallelic Mutations, Mendelian Disorder +5