Further phenotypical delineation of DLG3-related neurodevelopmental disorders
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Rapid epigenomic classification of acute leukemia
A comprehensive DNA methylation reference of acute leukemia We curated a comprehensive DNA methylation-based reference cohort from published…
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Abul-Husn, N. S. & Kenny, E. E. Personalized medicine and the power of electronic health records. Cell 177,…
Regulatory genome annotation | Nature Reviews Genetics
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Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy
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Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
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A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family
Cerván-Martín M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic landscape of nonobstructive azoospermia and new perspectives for the…
Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts
Chromosome-level assembly of the migratory locust We conducted genome sequencing on an adult female locust with a heterozygosity…
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review
Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate…
Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases
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