Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
SLC1A4 and Serine Homeostasis: Implications for Neurodevelopmental and Neurodegenerative Disorders.
Elazar D et al.
International Journal of Molecular Sciences, 2025
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Sivakumaran TA et al.
Genetics in Medicine Open, 2025
A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.
Odeh M et al.
Brain : a Journal of Neurology, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).
Ratz-Mitchem ML et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J et al.
Annals of Clinical and Translational Neurology, 2023
Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM).
Ratz ML et al.
Research Square, 2023
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.
Mohamed FE et al.
Frontiers in Pediatrics, 2023
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
A structural view onto disease-linked mutations in the human neutral amino acid exchanger ASCT1.
Stehantsev P et al.
Computational and Structural Biotechnology Journal, 2021
Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.
Xie S et al.
Cell Reports, 2020
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.
Abdelrahman HA et al.
Child Neurology Open, 2019
Systematic reanalysis of genomic data improves quality of variant interpretation.
Hiatt SM et al.
Clinical Genetics, 2018
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
Conroy J et al.
Journal of Human Genetics, 2016
A new tool for prioritization of sequence variants from whole exome sequencing data.
Glanzmann B et al.
Source Code for Biology and Medicine, 2016
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G et al.
Clinical Genetics, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh N et al.
Journal of Medical Genetics, 2015
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
Srour M et al.
Clinical Genetics, 2015
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
Fonseca AC et al.
Molecular Cytogenetics, 2015