OOIR: Observatory of International Research

Papers

(The TQCC of Neurology-Genetics 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 2022-05-01 to 2026-05-01.)

Article	Citations
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	74
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	50
The Second Decade of Neurology® Genetics Beckons	41
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	39
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	33
Paroxysmal Ataxia	32
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	29
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	27
Complex 4q35 and 10q26 Rearrangements	27
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy	22
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	21
Proceedings of the 28th International Stroke Genetics Consortium Workshop	20
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	20
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9	19
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	18
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	17
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	17
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	17
PRRT 2 -Related Epilepsy	17
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	16
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	16
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	16
The Genetics of TDP-43 Type C Neurodegeneration	15
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	15
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	14

Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	14
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	14
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	14
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	14
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	13
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	13
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	13
DEGS1 -Related Hypomyelinating Leukodystrophy	13
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	13
Frameshift and Copy Number Variants in SACS -Related Neuropathy	12
The Spectrum of Genetic Risk in Alzheimer Disease	12
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
Message From the Editors to Our Reviewers	12
Utility of Targeted RNA Analysis in Neurogenetic Disorders	12
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	12
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	12
Augmenting Diagnostic Yield From Genomic Sequencing	12
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	11
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	11
RFC1 Repeat Distribution in the Cypriot Population	11
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	11
Acid Ceramidase Deficiency	11
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	11
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	11
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	11
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	10
Genetic Testing for Malformations of Cortical Development	10
Expanding the Phenotype Spectrum of β-Mannosidosis	10
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	10
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	10
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	10
The Persistence of Duchenne vs Becker Muscular Dystrophies	10
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	9
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	9
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	9
Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease	9
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	9
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	9
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	9
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	9
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8
Unlocking Genetic Clues	8
LAMA2 -Related Muscular Dystrophy Across the Life Span	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
Post-Traumatic Headache in Children and Genetic Risk of Migraine	8
Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
Neurogenetics and Neurology® Genetics	8
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8

Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis	8
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Expanding the Clinicoradiologic Phenotype of the CTSA -Associated Small Vessel Disease CARASAL	7
Investigating the Genetic Relationship Between Vitamin B12 Metabolism and Parkinson Disease	7
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	7
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Novel TOP3A Variant Associated With Mitochondrial Disease	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Pediatric Cohort of Charcot-Marie-Tooth Disease	7
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	7
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	7
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	7
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
Adult Phenotype of SYNGAP1 -DEE	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Women With Genetic Epilepsies	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	6
CSF1R -Related Disorder	6
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity	6
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	6
Genome Sequencing in the Parkinson Disease Clinic	6