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Abbreviation : DNVs
Long Form : de novo variants
No. Year Title Co-occurring Abbreviation
2022 de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project. LCLs, SSC
2022 De novo variants are a common cause of genetic hearing loss. HL
2022 Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores. ---
2022 Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders. ASD, DD, FDR, NDDs
2022 Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease. CHD, PPI, WES
2022 Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study. IEI, WES
2022 Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment. ASD, dnTEIs, ESC, TEs
2021 Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism. HADDS, NDDs
2021 Cross-Disorder Analysis of De Novo Variants Increases the Power of Prioritising Candidate Genes. NDDs
10  2021 De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. ES, FSGS, SRNS
11  2021 Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders. NDDs
12  2020 De novo damaging variants associated with congenital heart diseases contribute to the connectome. CHD, NDD
13  2020 De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. LOF
14  2020 De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. DEE, SEMA6B
15  2020 Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. ID, MH
16  2020 Functional annotation of de novo variants from healthy individuals. ---
17  2020 Genomic analyses implicate noncoding de novo variants in congenital heart disease. CHD, CI, OR
18  2020 Spatio-Temporal Roles of ASD-Associated Variants in Human Brain Development. ASD
19  2019 Autism and developmental disability caused by KCNQ3 gain-of-function variants. ASD, EEG, GOF, NDD
20  2019 Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism. ASD
21  2019 PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders. DNP
22  2019 Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations. ddPCR, HSCR
23  2019 Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. DD
24  2019 Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases. LOF, NTD, WES, WIPI1
25  2018 De novo variants in neurodevelopmental disorders with epilepsy. NDDs
26  2018 Low-level parental mosaicism affects the recurrence risk of holoprosencephaly. ddPCR, HPE, NGS
27  2017 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. ID
28  2017 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism. ASD, CHs, gTDT, NGSEA, RAVs, WES
29  2015 Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal development. ---
30  2014 Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. SCZ