Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alyssa S. Wetzel"'
Autor:
Alyssa S. Wetzel, Benjamin W. Darbro
Publikováno v:
BMC Genomic Data, Vol 23, Iss 1, Pp 1-3 (2022)
Abstract Objective The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies. W
Externí odkaz:
https://doaj.org/article/11d5a9290fc4459481bcf3b716e9e31c
While copy number variants (CNVs) have been identified as an important cause of rare genetic disorders, they have also been identified in unaffected control populations, making clinical interpretation of these lesions challenging. Discriminating beni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97468729b8b02a0e3c1d82d010290b13
https://doi.org/10.1101/2022.10.17.22280252
https://doi.org/10.1101/2022.10.17.22280252
The interpretation of clinical chromosomal microarrays (CMAs) has historically relied on the relevance of identified copy number variants (CNVs) to the clinical phenotype. New interpretation guidelines are focused on standardizing pathogenicity class
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3785a22a0ab27788acb5f9e8a1f9a03
https://doi.org/10.1101/2022.09.26.22278681
https://doi.org/10.1101/2022.09.26.22278681