OOIR: Observatory of International Research

Papers

(The median citation count of Neurogenetics is 4. 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 2021-02-01 to 2025-02-01.)

Article	Citations
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants	21
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants	16
Welcoming articles on genotype-dependent clinical features and diagnostics	14
Acknowledgement to referees 2020/2021	12
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families	12
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer	12
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study	11
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation	11
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype	10
Increased unfolded protein responses caused by MED17 mutations	9
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation	9
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects	7
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review	7
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?	7
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees	7
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder	6
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center	6
Multi-system neurological disorder associated with a CRYAB variant	6
Does genetic anticipation occur in familial Alexander disease?	6
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly	5
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant	5
Correction to: Increased unfolded protein responses caused by MED17 mutations	4
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	4
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene	4
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse	4

Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant