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 2022-06-01 to 2026-06-01.)

Article	Citations
The Second Decade of Neurology® Genetics Beckons	75
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	51
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy	41
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	40
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	36
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	32
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	30
Complex 4q35 and 10q26 Rearrangements	29
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	27
Paroxysmal Ataxia	22
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	22
Proceedings of the 28th International Stroke Genetics Consortium Workshop	21
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change	21
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	20
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	18
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	17
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9	17
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	17
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	17
The Genetics of TDP-43 Type C Neurodegeneration	16
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	16
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	16
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	16
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	16
PRRT 2 -Related Epilepsy	16

Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	15
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	15
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	15
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	14
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
DEGS1 -Related Hypomyelinating Leukodystrophy	14
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	14
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	13
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	13
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	13
The Spectrum of Genetic Risk in Alzheimer Disease	13
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	13
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	12
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
Augmenting Diagnostic Yield From Genomic Sequencing	12
Message From the Editors to Our Reviewers	12
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	12
Utility of Targeted RNA Analysis in Neurogenetic Disorders	12
Frameshift and Copy Number Variants in SACS -Related Neuropathy	12
Genetic Testing for Malformations of Cortical Development	11
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	11
Expanding the Phenotype Spectrum of β-Mannosidosis	11
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	11
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	11
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	11
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	11
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	11
RFC1 Repeat Distribution in the Cypriot Population	11
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	10
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	10
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	10
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	10
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	10
Acid Ceramidase Deficiency	10
The Persistence of Duchenne vs Becker Muscular Dystrophies	10
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	9
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	9
Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease	9
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
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	9
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	9
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
LAMA2 -Related Muscular Dystrophy Across the Life Span	8
Neurogenetics and Neurology® Genetics	8
Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction	8
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder	8
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8

Unlocking Genetic Clues	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8
Post-Traumatic Headache in Children and Genetic Risk of Migraine	8
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Expanding the Clinicoradiologic Phenotype of the CTSA -Associated Small Vessel Disease CARASAL	7
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	7
Novel TOP3A Variant Associated With Mitochondrial Disease	7
Parkinson Disease Pathogenic Variants	7
Pediatric Cohort of Charcot-Marie-Tooth Disease	7
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	7
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Investigating the Genetic Relationship Between Vitamin B12 Metabolism and Parkinson Disease	7
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
Adult Phenotype of SYNGAP1 -DEE	6
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	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
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	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
CSF1R -Related Disorder	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