OOIR: Observatory of International Research

Papers

(The median citation count of Neurogenetics is 6. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)

Article	Citations
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants	28
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia	21
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients	18
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene	18
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype	15
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study	15
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families	13
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse	12
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review	12
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations	11
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer	10
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant	9
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly	8
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype	7
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review	7
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study	7
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic	6
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects	6
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene	6
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation	6