Associated Papers
MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.
Archer J et al.
Clinical Genetics, 2026
Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.
Zhou C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
MAP1B related syndrome: Case presentation and review of literature.
Julca DM et al.
American Journal of Medical Genetics. Part A, 2019
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Heinzen EL et al.
Plos Genetics, 2018
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