Latest Research in Genomics and Rare Diseases

Top Research Topics in Genomics and Rare Diseases

• Genomics and Rare Diseases — 4 papers
• Genetic Syndromes and Imprinting — 2 papers
• Amyotrophic Lateral Sclerosis Research — 2 papers
• Hereditary Neurological Disorders — 2 papers
• Glycogen Storage Diseases and Myoclonus — 1 papers
• RNA modifications and cancer — 1 papers
• Neuropeptides and Animal Physiology — 1 papers
• Myeloproliferative Neoplasms: Diagnosis and Treatment — 1 papers
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities — 1 papers
• Genetic Neurodegenerative Diseases — 1 papers

Highest-Cited Papers

1. A methodological framework for real-world performance studies of clinical variant classification platforms at early organizational stages (1 citations)
2. First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant
3. SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago
4. L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
5. Development and validation of a multiplex targeted PCR-sequencing assay for opioid pharmacogenes genotyping
6. Genotype-first analysis redefines autosomal dominant LZTR1-related disorders susceptibility architecture
7. JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?
8. Clinical implications of variants of uncertain significance identified by multi-gene panel analysis in Korean patients with amyotrophic lateral sclerosis
9. Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families
10. Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy
11. Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing
12. Functional Characterization of the PAX8 p.Leu264Pro Variant Identified in a Patient with a Müllerian Duct Anomaly
13. Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis
14. Advanced Presentation of GEMIN5 Neurodevelopmental Disorder in an Elderly Female
15. Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies
16. A de novo FUS frameshift variant (p.Gly501Valfs*30) presenting with tremor and prominent extrapyramidal features in young-onset motor neuron disease: a case report
17. Resolving the complex CES1 genomic locus with Cas9-directed targeted long-read sequencing