Latest Research in Genomic variations and chromosomal abnormalities

13 research papers · 2026 median publication year

Top Research Topics in Genomic variations and chromosomal abnormalities

Highest-Cited Papers

  1. Population-specific genetic variants and related health outcomes in a cohort of Inuit children in Nunavut
  2. Genotype–cognitive phenotype associations in Duchenne muscular dystrophy: the role of mutation location and ambulatory status in a pediatric cohort
  3. A rare coexistence of 47,XXX and Silver–Russell syndrome: a case report
  4. Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study
  5. Phenotyping and Hierarchical Clustering in Genetically Unresolved DSD Identifies Distinct Multisystem Clinical Subgroups – A DSDgene study
  6. Case Report: Early multidisciplinary rehabilitation and longitudinal functional outcomes in a child with a maternally derived 15q11.2-q13.1 copy-number gain
  7. Prenatal and Postnatal Identification of Phelan–McDermid Syndrome in a Tertiary Referral Center: A 15-Case Series and Literature Review
  8. Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing
  9. AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral‐centre study
  10. Genetic testing in paediatric neurological disorders
  11. Mosaic trisomy 22: Reaching the diagnosis through the skin
  12. Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry
  13. Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease
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L3 Region - - 2026 Sep Q3

Genomic variations and chromosomal abnormalities

13 papers

Top Topics (10)

Genomic variations and chromosomal abnormalities2
Genomics and Rare Diseases2
Digestive system and related health1
Muscle Physiology and Disorders1
Genetic Syndromes and Imprinting1
Lysosomal Storage Disorders Research1
Sexual Differentiation and Disorders1
Inflammasome and immune disorders1
Genetic and rare skin diseases.1
Blood disorders and treatments1

Top Publications (13)

1.Population-specific genetic variants and related health outcomes in a cohort of Inuit children in Nunavut2.Genotype–cognitive phenotype associations in Duchenne muscular dystrophy: the role of mutation location and ambulatory status in a pediatric cohort3.A rare coexistence of 47,XXX and Silver–Russell syndrome: a case report4.Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study5.Phenotyping and Hierarchical Clustering in Genetically Unresolved DSD Identifies Distinct Multisystem Clinical Subgroups – A DSDgene study6.Case Report: Early multidisciplinary rehabilitation and longitudinal functional outcomes in a child with a maternally derived 15q11.2-q13.1 copy-number gain7.Prenatal and Postnatal Identification of Phelan–McDermid Syndrome in a Tertiary Referral Center: A 15-Case Series and Literature Review8.Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing9.AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral‐centre study10.Genetic testing in paediatric neurological disorders11.Mosaic trisomy 22: Reaching the diagnosis through the skin12.Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry13.Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease
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