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References from Diagnostic yield of genome sequencing in children with progressive movement disorders. Local targets link to admitted publications; unresolved targets remain external evidence.
Genetic testing of movements disorders: A review of clinical utility
10.5334/tohm.835 · 2024 · External reference
Genetic landscape of pediatric movement disorders and management implications
10.1212/nxg.0000000000000265 · 2018 · External reference
Phenotypic and genetic complexity in pediatric movement disorders
10.3389/fgene.2022.829558 · 2022 · External reference
Clinical and genetic spectrum in a large cohort of hereditary spastic paraplegia
10.1002/mds.29728 · 2024 · External reference
Increased diagnostic yield in complex dystonia through exome sequencing
10.1016/j.parkreldis.2020.04.003 · 2020 · External reference
Genomic analysis in the age of human genome sequencing
10.1016/j.cell.2019.02.032 · 2019 · External reference
Children’s rare disease cohorts: An integrative research and clinical genomics initiative
10.1038/s41525-020-0137-0 · 2020 · External reference
Toward representative genomic research: The children’s rare disease cohorts experience
2023 · External reference
The GENESIS database and tools: A decade of discovery in Mendelian genomics
10.1016/j.expneurol.2024.114978 · 2024 · External reference
Deep structured learning for variant prioritization in Mendelian diseases
10.1038/s41467-023-39306-7 · 2023 · External reference
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
10.1186/s13059-020-02017-z · 2020 · External reference
REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats
10.1186/s13073-022-01085-z · 2022 · External reference
SIns: A novel insertion detection approach based on soft-clipped reads
10.3389/fgene.2021.665812 · 2021 · External reference
A novel Alu element insertion in ATM induces exon skipping in suspected HBOC patients
10.1155/2023/6623515 · 2023 · External reference
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
10.1016/j.gim.2023.100839 · 2023 · External reference
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
10.1016/j.gim.2024.101218 · 2024 · External reference
Methylation assay in KMT2B-related dystonia: A novel diagnostic validation tool
10.1186/s13148-024-01780-1 · 2024 · External reference
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
10.1016/j.gim.2023.100856 · 2023 · External reference
SCA27 caused by a chromosome translocation: Further delineation of the phenotype
10.1007/s10048-009-0197-x · 2009 · External reference
SCA27 is a cause of early-onset ataxia and developmental delay
10.1016/j.ejpn.2014.11.013 · 2015 · External reference
Spinocerebellar ataxia 27: Clinical phenotype of twin sisters with FGF14 deletion
10.1055/s-0037-1598110 · 2017 · External reference
Spinocerebellar ataxia 27: A review and characterization of an evolving phenotype
10.5334/tohm.436 · 2018 · External reference
Novel in-frame FGF14 deletion causes spinocerebellar ataxia type 27A: Clinical response to deep brain stimulation and 4-aminopyridine
10.1002/mds.30183 · 2025 · External reference
The crystal structure of netrin-1 in complex with DCC reveals the bifunctionality of netrin-1 as a guidance cue
10.1016/j.neuron.2014.07.010 · 2014 · External reference
Unresolved reference
1993 · External reference
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
10.1002/ana.22122 · 2010 · External reference
Expanding the clinical spectrum of LONP1-related mitochondrial cytopathy
10.3389/fneur.2019.00981 · 2019 · External reference
LONP1 alleviates ageing-related renal fibrosis by maintaining mitochondrial homeostasis
10.1111/jcmm.70090 · 2024 · External reference
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome
10.1002/acn3.51335 · 2021 · External reference
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
10.1038/s41588-020-0695-1 · 2020 · External reference
Clinical actionability of genetic findings in cerebral palsy: A systematic review and meta-analysis
10.1001/jamapediatrics.2024.5059 · 2025 · External reference
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
10.1172/jci40076 · 2010 · External reference
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis
10.1212/01.nxg.0000464295.65736.da · 2015 · External reference
Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy
10.1016/j.ymthe.2024.08.009 · 2024 · External reference
Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis
10.1007/s10549-022-06723-z · 2022 · External reference
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gim.2024.101243 · 2025 · External reference
Genome sequencing for diagnosing rare diseases
10.1056/nejmoa2314761 · 2024 · External reference
10.1101/2025.01.06.631535
10.1101/2025.01.06.631535 · External reference
