Last Updated: 09/26/2026
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Found 15 publications
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.
Journal: medRxiv : the preprint server for health sciences
Published: April 20, 2026
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Journal: HGG advances
Published: November 02, 2025
Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain.
Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain.
Journal: bioRxiv : the preprint server for biology
Published: June 03, 2024
Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain.
Journal: American journal of human genetics
Published: April 02, 2024
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Journal: JAMA neurology
Published: July 24, 2023
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 20, 2023
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Journal: Clinical genetics
Published: August 04, 2022
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 11, 2022
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy.
Journal: Neurology. Genetics
Published: July 10, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Journal: Brain : a journal of neurology
Published: June 23, 2022
Last Updated: 09/26/2026