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 2020-10-01 to 2024-10-01.)

Article	Citations
Milestones in genetics of cerebellar ataxias	21
Spinocerebellar ataxias (SCAs) caused by common mutations	16
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study	14
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR	13
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants	12
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse	12
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations	12
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	12
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes	11
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants	11
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation	10
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	9
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype	8
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
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases	7
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype	7
Pitt–Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations	6
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center	6
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study	6
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families	6
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy	6
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center	5
Increased unfolded protein responses caused by MED17 mutations	5
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic	4

Does genetic anticipation occur in familial Alexander disease?	4
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series	4
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene	4
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees	4
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly	4
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant	4