CoREST: A functional corepressor required for regulation of neural-specific gene expression

Marı́a Estela Andrés, Corinna Bürger, María José Peral Rubio, +6

Proceedings of the National Academy of Sciences

Gene Regulatory NetworkSynaptic SignalingSocial SciencesTranscriptional RegulationCellular Regulatory Mechanism +18

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo, +37

Nature Genetics

Somatic VariantMendelian DisorderGenetic DisorderGeneticsMolecular Biology +5

Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

Stephan Züchner, Julia E. Dallman, Rong Wen, +19

The American Journal of Human Genetics

Functional GenomicsMendelian DisorderGenetic DisorderNext-generation SequencingGenetics +8

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo, +91

Nature Genetics

Biallelic MutationsSomatic VariantGenetic DisorderGeneticsDiabetes +7

Crossing the blood–brain–barrier with transferrin conjugated carbon dots: A zebrafish model study

Shanghao Li, Zhili Peng, Julia E. Dallman, +4

Colloids and Surfaces B Biointerfaces

NeuroregenerationMolecular NeuroscienceZebrafish Model StudyBlood–brain BarrierMedicine +9

Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Kemal O. Yariz, Duygu Duman, Celia Zazo Seco, +26

The American Journal of Human Genetics

Developmental BiologyGeneticsAudiologyOtorhinolaryngologyAuditory Physiology +8

Tryptophan carbon dots and their ability to cross the blood-brain barrier

Keenan J. Mintz, Guillaume Mercado, Yiqun Zhou, +7

Colloids and Surfaces B Biointerfaces

NeuropeptidesMolecular NeuroscienceBlood–brain BarrierNeurophysiologyBlood-brain Barrier +9

Translocation of CaM kinase II to synaptic sites in vivo

Michelle R. Gleason, Shin‐ichi Higashijima, Julia E. Dallman, +3

Nature Neuroscience

Synaptic PlasticityMolecular PhysiologySignal TransductionMolecular NeuroscienceSignaling Pathway +12

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

Robert A. Kozol, Holly N. Cukier, Bing Zou, +13

Human Molecular Genetics

Intestinal dysmotility in a zebrafish (Danio rerio) shank3a;shank3b mutant model of autism

David M. James, Robert A. Kozol, Yuji Kajiwara, +6

Molecular Autism