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 2020-03-01 to 2024-03-01.)

Article	Citations
Milestones in genetics of cerebellar ataxias	18
Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease	13
Spinocerebellar ataxias (SCAs) caused by common mutations	13
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder	12
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR	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
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study	12
Oligogenicity, C9orf72 expansion, and variant severity in ALS	12
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations	11
Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain	10
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation	9
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse	9
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures	9
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants	8
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes	8
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants	8
Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations	7
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients	7
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females	7
Rare copy number variations of planar cell polarity genes are associated with human neural tube defects	7
Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients	7
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1	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
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	7
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival	7

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis	6
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases	6
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype	6
Distal myopathy due to TCAP variants in four unrelated Chinese patients	6
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families	6
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype	5
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review	5
Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency	5
Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy	5
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center	4
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly	4
Pitt–Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations	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
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study	4
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center	4
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect	4