Latest Research in Genomics and Rare Diseases

14 research papers · 0.1 average citations · 2026 median publication year

Top Research Topics in Genomics and Rare Diseases

Highest-Cited Papers

  1. Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease (1 citations)
  2. Longitudinal EEG, Seizure, and Developmental Patterns in Children With CDKL5 Deficiency Disorder in the First 2 Years of Life (1 citations)
  3. A familial 22.59 Mb deletion of the 10q11.21q21.3 region on the neocentromeric chromosome 10 with coexistence of SMC(10): Case report and review of literature.
  4. Using Genomic Data in Personalized Oncology Medicine: An Exploratory Expert-Elicitation Study with Narrative Regulatory Mapping of Regulations, Implementations, and Challenges in Saudi Arabia
  5. Caring for Rare Genetic Disease: A Vision for the Future
  6. Ultra-early treatment initiated at 9 days of age for spinal muscular atrophy: a case report
  7. Linguistic and communicative profile of children with Dravet Syndrome: A descriptive case series
  8. Argument in Favor of Reporting Adult-onset Conditions in Prenatal Diagnosis
  9. Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome
  10. Academic achievement in Noonan Syndrome, spectrum, and related disorders
  11. Succinylation-related gene GLS regulates mannose and glycerophospholipid metabolism to promote irritable bowel syndrome: an integrated study combining Mendelian randomization, SMR, and mediation analysis
  12. Fructose and Alcohol Hepatotoxicity: Demographic Overlap and Mechanistic Interactions
  13. Statistical power in UK genetic syndrome research; evidence from studies of Down syndrome, Fragile X syndrome and Williams syndrome as model syndrome groups
  14. Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases
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L3 Region - - 2026 Sep Q3

Genomics and Rare Diseases

14 papers
0.1 avg cites

Top Topics (10)

Genomics and Rare Diseases2
Genomic variations and chromosomal abnormalities1
Genetics and Neurodevelopmental Disorders1
BRCA gene mutations in cancer1
Neurogenetic and Muscular Disorders Research1
Language Development and Disorders1
Prenatal Screening and Diagnostics1
Parvovirus B19 Infection Studies1
Protein Tyrosine Phosphatases1
Gastrointestinal motility and disorders1

Top Publications (14)

1.Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease1c2.Longitudinal EEG, Seizure, and Developmental Patterns in Children With CDKL5 Deficiency Disorder in the First 2 Years of Life1c3.A familial 22.59 Mb deletion of the 10q11.21q21.3 region on the neocentromeric chromosome 10 with coexistence of SMC(10): Case report and review of literature.4.Using Genomic Data in Personalized Oncology Medicine: An Exploratory Expert-Elicitation Study with Narrative Regulatory Mapping of Regulations, Implementations, and Challenges in Saudi Arabia5.Caring for Rare Genetic Disease: A Vision for the Future6.Ultra-early treatment initiated at 9 days of age for spinal muscular atrophy: a case report7.Linguistic and communicative profile of children with Dravet Syndrome: A descriptive case series8.Argument in Favor of Reporting Adult-onset Conditions in Prenatal Diagnosis9.Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome10.Academic achievement in Noonan Syndrome, spectrum, and related disorders11.Succinylation-related gene GLS regulates mannose and glycerophospholipid metabolism to promote irritable bowel syndrome: an integrated study combining Mendelian randomization, SMR, and mediation analysis12.Fructose and Alcohol Hepatotoxicity: Demographic Overlap and Mechanistic Interactions13.Statistical power in UK genetic syndrome research; evidence from studies of Down syndrome, Fragile X syndrome and Williams syndrome as model syndrome groups14.Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases
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