Publications by authors named "S Boyadjiev"

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

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Article Synopsis
  • Bladder exstrophy epispadias complex (BEEC) is a rare birth defect with unclear causes, though genetics may play a role, and newer sequencing technologies help pinpoint genetic factors.
  • The study aimed to find rare genetic variants linked to bladder regeneration in 12 patients with BEEC, classifying their bladder function as either sufficient or insufficient.
  • Out of 44 genes studied, the researchers discovered rare genetic variants in two genes among sufficient cases and seven variants across five genes in unsuspected cases, highlighting the potential genetic contributors to the condition.
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Article Synopsis
  • - Craniosynostosis (CS) is a birth defect caused by the early fusion of skull sutures, with nonsyndromic CS, specifically sagittal nonsyndromic craniosynostosis (sNCS), being the most common type, linked to genetic factors, particularly on chromosome 20.
  • - This study is the first to use whole-genome sequencing on 63 families to identify high-risk rare gene variants related to sNCS, employing advanced statistical tests to analyze the data and pinpoint significant genetic locations.
  • - A noteworthy locus at 20p12.3 was found, containing three potential causal variants associated with cranial shape changes; however, no significant rare variants or gene copy number variants emerged,
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The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate genome-wide association study on 3D cranial vault shape extracted from magnetic resonance images of 6772 children from the ABCD study cohort yielding 30 genome-wide significant loci. Follow-up analyses indicate that these loci overlap with genomic risk loci for sagittal craniosynostosis, show elevated activity cranial neural crest cells, are enriched for processes related to skeletal development, and are shared with the face and brain.

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Osteoporosis is the most prevalent bone condition in the ageing population. This systemic disease is characterized by microarchitectural deterioration of bone, leading to increased fracture risk. In the past 15 years, genome-wide association studies (GWAS), have pinpointed hundreds of loci associated with bone mineral density (BMD), helping elucidate the underlying molecular mechanisms and genetic architecture of fracture risk.

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