Associated Papers
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
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Cell Reports. Medicine, 2025
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Supplement: mmc3.xlsx › Table_S6
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
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Human Mutation, 2025
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Awamleh Z et al.
Human Molecular Genetics, 2023
Natural history of KBG syndrome in a large European cohort.
Loberti L et al.
Human Molecular Genetics, 2022
35861666 (PubMed )
Supplement: table_s2_ddac167.xlsx › Foglio2
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Guo L et al.
European Journal of Human Genetics : Ejhg, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
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Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
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