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 2022-08-01 to 2026-08-01.)

Article	Citations
The Second Decade of Neurology® Genetics Beckons	83
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	57
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy	38
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	34
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	32
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	32
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	26
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	24
Complex 4q35 and 10q26 Rearrangements	22
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change	22
Paroxysmal Ataxia	22
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	20
Proceedings of the 28th International Stroke Genetics Consortium Workshop	19
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	18
The Genetics of TDP-43 Type C Neurodegeneration	18
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	18
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	18
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	18
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	17
PRRT 2 -Related Epilepsy	17
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	17
Preparing Amyotrophic Lateral Sclerosis Clinics to Provide Longitudinal Care for Individuals Carrying ALS Risk Variants	16
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	16
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	16
The Spectrum of Genetic Risk in Alzheimer Disease	16

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9	16
DEGS1 -Related Hypomyelinating Leukodystrophy	16
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	15
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	15
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	15
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	14
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	14
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	14
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	14
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	13
Message From the Editors to Our Reviewers	13
Utility of Targeted RNA Analysis in Neurogenetic Disorders	13
Frameshift and Copy Number Variants in SACS -Related Neuropathy	13
Augmenting Diagnostic Yield From Genomic Sequencing	13
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	13
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	13
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	12
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	12
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	12
Genetic Testing for Malformations of Cortical Development	12
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	12
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	12
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	11
Expanding the Phenotype Spectrum of β-Mannosidosis	11
Acid Ceramidase Deficiency	11
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	11
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	11
The Persistence of Duchenne vs Becker Muscular Dystrophies	11
RFC1 Repeat Distribution in the Cypriot Population	11
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	10
Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease	10
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	10
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	10
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	10
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	10
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	9
Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant	9
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	9
Neurogenetics and Neurology® Genetics	9
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder	9
Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay	9
Unlocking Genetic Clues	9
LAMA2 -Related Muscular Dystrophy Across the Life Span	9
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
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis	8
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	8
Novel TOP3A Variant Associated With Mitochondrial Disease	7
Pediatric Cohort of Charcot-Marie-Tooth Disease	7
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	7
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	7
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	7
Expanding the Clinicoradiologic Phenotype of the CTSA -Associated Small Vessel Disease CARASAL	7
Genetically Guided Pharmacotherapy for Structural Neurovascular Lesions	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Investigating the Genetic Relationship Between Vitamin B12 Metabolism and Parkinson Disease	7
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	7
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	7
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	7
Parkinson Disease Pathogenic Variants	7
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
Expanding the Spectrum of BCAP31 -Associated Diseases	6
Population Attributable Risk in Alzheimer and Parkinson Diseases	6
Genome Sequencing in the Parkinson Disease Clinic	6
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	6
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity	6
NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome	6
CSF1R -Related Disorder	6
KIF5C -Related Neurodevelopmental Disorder	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Adult Phenotype of SYNGAP1 -DEE	6