Latest Research in Genetic Syndromes and Imprinting

Top Research Topics in Genetic Syndromes and Imprinting

• Genomics and Rare Diseases — 5 papers
• Genetic Syndromes and Imprinting — 1 papers
• Inflammatory Myopathies and Dermatomyositis — 1 papers
• Neurogenetic and Muscular Disorders Research — 1 papers
• Connective tissue disorders research — 1 papers
• Genetic factors in colorectal cancer — 1 papers
• Cholesterol and Lipid Metabolism — 1 papers
• Hair Growth and Disorders — 1 papers
• Neurological diseases and metabolism — 1 papers
• Metabolism and Genetic Disorders — 1 papers

Highest-Cited Papers

1. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV)
2. Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative
3. A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
4. Homozygous variants in ZSWIM6 cause severe syndromic short stature and developmental delay.
5. Twelve Japanese patients with POLG-related disorders: Population-specific genetic differences of POLG variants in Japan and Europe
6. Biallelic ABCA13 Loss‐of‐Function Variants in a Child With Neurodevelopmental Delay: A Case Report
7. First CDH3 -related HJMD case in a black patient: novel variants and diagnostic odyssey
8. Low-depth whole genome sequencing as a complementary approach for detecting clinically relevant variants in hearing loss
9. The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect
10. Recent advances in adult-onset disorders of muscle lipid metabolism
11. From Misdiagnosis to Discovery: Expanding the Spectrum of Spliceosomopathies
12. Three Novel de Novo SOX4 Variants Expanding the Phenotypic Spectrum: Case Series and Literature Review
13. Characterization of Dystrophin-Related Syndromes: Carriers, DMD, and BMD
14. COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 ( MC4DN10 )
15. ER stress and structural changes induced by rare WFS1 variant identified in autosomal dominant form of WFS1-related disorder
16. Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics
17. A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders
18. A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome
19. Biallelic SIGMAR1 variants in early-onset distal hereditary motor neuropathy: A Japanese case series
20. Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon