OOIR: Observatory of International Research

Papers

(The median citation count of Neurogenetics is 5. 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 2021-04-01 to 2025-04-01.)

Article	Citations
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study	26
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants	20
Welcoming articles on genotype-dependent clinical features and diagnostics	18
Acknowledgement to referees 2020/2021	17
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation	15
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype	14
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer	12
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants	12
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families	11
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation	10
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review	10
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects	9
Increased unfolded protein responses caused by MED17 mutations	8
A novel pathogenic variant in the 3ʹ end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?	8
Multi-system neurological disorder associated with a CRYAB variant	7
Does genetic anticipation occur in familial Alexander disease?	7
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees	7
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly	6
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant	6
Correction to: Increased unfolded protein responses caused by MED17 mutations	5
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene	5