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 2021-06-01 to 2025-06-01.)

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	20
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene	18
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study	15
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype	15
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations	13
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse	13
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families	13
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer	10
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	9
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant	9
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype	9
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation	7
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study	7
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene	6
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