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1 onogenic disorders may therefore actually be digenic.
2 ous for a POMP mutation, thus establishing a digenic and autosomal dominant inheritance pattern of PR
3 f rds and rom1 in patients with RDS-mediated digenic and dominant RP.
4                      RNA-seq analysis in the digenic and monogenic mouse models highlighted the cilia
5 equilibrium was contributed by the composite digenic and quadrigenic disequilibrium whose values and
6 action was synergistic in both species, with digenic animals exhibiting phenotypes of rapidly progres
7       We suggest that the application of the digenic approach to additional disease cohorts will sign
8 abinoid segregation patterns consistent with digenic as well as epistatic modes of inheritance were o
9 uitary development and provide support for a digenic basis for hypopituitarism.
10                                          The digenic cases all had the same RDS mutation (the missens
11 l, individual clinical information excluding digenic cases, and redundant articles.
12  CRISPR-Cas9 genome editing in mice as being digenic causes of HLHS.
13 S carrying primary LHON variants, and report digenic co-occurrence of the m.11778G > A variant with d
14 on frequencies for compound heterozygous and digenic combinations were calculated from the results fo
15 case, 5 properdin mutated individuals, and 4 digenic complement deficiencies were identified.
16                                  To identify digenic dependencies, we developed a CRISPR paralog targ
17         To comprehensively map monogenic and digenic dependencies, we performed CRISPR-Cas9 screening
18           We further substantiate a proposed digenic diallelic inheritance of ciliopathies by the ide
19               Furthermore, we found possible digenic disease by detecting one individual who carried
20  forest classifier for identifying candidate digenic disease gene pairs by features derived from biol
21 iated LSS, consistent with recent reports of digenic disease in individuals manifesting with LSS due
22 he rapid screening of variant gene pairs for digenic disease potential, we freely provide the predict
23 ariant gene pairs for the potential to cause digenic disease.
24 IDA, the largest available database of known digenic-disease-causing gene pairs, and several sets of
25 ilibria need to be combined into a composite digenic disequilibrium and further define a composite qu
26 utation in ZMPSTE24 and hypothesized to be a digenic disorder (Navarro et al, Lamin A and ZMPSTE24 (F
27                          However, only a few digenic disorders have been reported, all discovered by
28                                          The digenic (double homozygous) rga/gal-3 mutants are able t
29  main QTL explained 66% of the variance, and digenic epistasis accounted for 16% of the variance.
30 r main QTL explained 62% of the variance and digenic epistasis accounted for only 5% of the variance.
31 e effects were important and that dominance, digenic epistasis and maternal effects were not signific
32 or 64% of the total phenotypic variance, and digenic epistasis explained 11.8% of the variance.
33 for 29% of the total phenotypic variance and digenic epistasis explained 39% of the variance.
34 tween populations that revealed additive and digenic epistasis for the same trait.
35 These findings provide further evidence that digenic epistatic interactions can contribute to the com
36                              Six significant digenic epistatic interactions were also observed.
37 ses segregated for the high oleic trait in a digenic fashion.
38                          However, an unusual digenic form of RP has been described.
39 -causing gene pairs, and several sets of non-digenic gene pairs, including variant pairs derived from
40 ation and the Atp2b2 Oblivion mutation cause digenic genetic hearing loss, Cas9/sgRNA delivery target
41 notype with compound heterozygosity in 7 and digenic heterozygosity in 14.
42                                     Compound/digenic heterozygosity was identified in 16% of ARVC-cau
43 desmosomal genes mutations; second variants (digenic heterozygosity) were identified in 16 of 38 subj
44 zygosity) or in a second complementary gene (digenic heterozygosity).
45 ncludes reduced penetrance with compound and digenic heterozygosity.
46 heterozygosity, and 4 cases of CELSR1-MYO15A digenic heterozygosity.
47                  We generated mice that were digenic heterozygotes for Myo7a(sh1-8J) and one of each
48 n loci can interact to cause hearing loss in digenic heterozygotes of both species.
49  Cytoarchitectural defects in the cochlea of digenic heterozygotes, including degeneration of the ste
50 lity CHD, 29 are more likely to be potential digenic hits as predicted by the DiGePred tool.
51                                              Digenic homozygous mutations in RNF216 and OTUD4, which
52 fies a human IFNAR1 mutation and describes a digenic immunodeficiency specific to type I and type II
53            A new study identifies a role for digenic inheritance and an epigenetic modifier in facios
54                              We hypothesized digenic inheritance and looked for additional molecular
55                   Because modifier genes and digenic inheritance are not always distinguishable, we a
56  and statistical modeling strongly supported digenic inheritance as the best-fitting model.
57                    Only very few examples of digenic inheritance have been described in the neuromusc
58 al pheochromocytoma syndrome consistent with digenic inheritance identified through a combination of
59  is a powerful and timely tool for detecting digenic inheritance in WES data from patients.
60 e a two-locus genome-wide test for detecting digenic inheritance in WES data.
61                                 Furthermore, digenic inheritance may well contribute to the clinical
62 humans, we also have obtained evidence for a digenic inheritance of a USH1 phenotype in three unrelat
63                              We propose that digenic inheritance of deleterious changes impacting bot
64 o include in this review several examples of digenic inheritance of hearing loss that have been repor
65                 Here, we report evidence for digenic inheritance of HH.
66  DNA variants at two different genetic loci (digenic inheritance).
67 hat progressive piebaldism might result from digenic inheritance, of the KIT(V620A) mutation that cau
68                                           In digenic inheritance, pathogenic variants in two genes mu
69                                  Looking for digenic inheritance, we sequenced the genes encoding the
70 r of patients, suggesting the possibility of digenic inheritance.
71 healthy carriers of m.14674T>C, supporting a digenic inheritance.
72 ts that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription f
73 ildren is unusual and might be the result of digenic interaction between FCD1 and an independent late
74                                   Mapping of digenic interactions for a deletion mutant of each paral
75 re, we conducted a comprehensive analysis of digenic interactions in CHD by utilizing a large CHD tri
76 , our findings suggest the potential role of digenic interactions in CHD pathogenesis and provide ins
77 orresponding case-control test for detecting digenic interactions in various population stratificatio
78                                Investigating digenic interactions, the simplest form of oligogenic in
79  were substantially more frequent (>6x) than digenic interactions.
80 ibraries targeting paralog pairs to optimize digenic knockout screens.
81 ccessfully identifying a previously reported digenic lesion in patients with craniosynostosis.
82                        Compound heterozygous digenic (LMNA [lamin]/titin deletion A-band) with monoge
83                       Our findings suggest a digenic mechanism of disease for m.11778G>A-associated L
84 ay contraction to 1-10 units (FSHD1) or by a digenic mechanism requiring pathogenic variants in a D4Z
85                    This suggests a potential digenic mode of inheritance of FHL as a result of a syne
86  often unknown (less than 40%), so we used a digenic model approach for the identification of contrib
87 ons in both HSD11B1 and H6PD in a triallelic digenic model of inheritance, resulting in low 11beta-HS
88                      IGT4 represents a novel digenic model of insulin resistance coupled with an insu
89                     Here, we present a novel digenic model of type 2 diabetes in mice heterozygous fo
90 ciliary expression and length changes in the digenic models.
91 s and the previous finding that PMCAs act as digenic modulators in Ca(2+)-linked pathologies, the PMC
92 this study, we show that the SR62 locus is a digenic module encoding the Sr62(TK) TK and an NLR (Sr62
93 nd rat models and characterized and compared digenic, monogenic, and wild-type phenotypes.
94 osage effects on the phenotype, we generated digenic mouse and rat models and characterized and compa
95                               We generated a digenic mouse model of human idiopathic epilepsy by comb
96 een Pkhd1 and Pkd1 depended on dosage in the digenic murine models, with no significant enhancement o
97                     Moreover, platelets from digenic mutation carriers contained less soluble guanyly
98 ith dominant mutations in OHC genes and with digenic mutations in the auditory hair cells, potentiall
99 hat the spontaneous recovery in infants with digenic mutations may be modulated by the above describe
100                                      De novo digenic mutations of telomere-associated proteins and in
101 ion (p.R1141X) in the ABCC6 gene, suggesting digenic nature of their skin findings.
102 c variant combinations in gene pairs (called digenic or bilocus variant combinations).
103  we further demonstrate its utility by using digenic pairs from the recent literature.
104                             Out of 39 unique digenic pairs in laterality CHD, 29 are more likely to b
105    Altogether, in laterality cohorts, 23% of digenic pairs were in the same structural complex of mot
106  Dhcr14 mice were intercrossed to test for a digenic phenotype.
107 and Six3 in mice supports the possibility of digenic pituitary disease in children.
108     This work demonstrates that monogenic or digenic POLR3A and POLR3C deficiencies confer increased
109  To address this challenge, we developed the digenic predictor (DiGePred), a random forest classifier
110                        One family (0.5%) has digenic RDS-ROM1 mutations.
111  locus RXC3 in conjunction with RXC4 confers digenic resistance to X. c. campestris.
112      Based on the recessive phenotype of the digenic rga/gal-3 mutant, the wild-type gene product of
113 ns in the RDS gene as a cause of dominant or digenic RP and mutations in the ROM1 gene as a cause of
114 Four other index patients were found to have digenic RP as a result of the combination of heterozygou
115 oreceptor degeneration in the mouse model of digenic RP was faster than in the wild-type and monogeni
116 M1 mutations, when present together, lead to digenic RP.
117 and mutations in the ROM1 gene as a cause of digenic RP.
118               Furthermore, our data reveal a digenic syndrome in the index family, with simultaneous
119 ci for pheochromocytoma and adds a recessive digenic trait to the increasingly broad genetic heteroge
120 ies generated by the combination of germline digenic variants at the TYMS-ENOSF1 locus represent a un
121  variants were identified in 2.8% (inherited digenic variants in 0.4%), 8.2%, and 13.5% of individual
122 s occurred in one in 88,866 individuals, and digenic variants in at least one in 44,793.
123                           trans-heterozygous digenic variants were also identified in 0.4% and 1.4% o
124                           trans-heterozygous digenic variants were identified in 2.8% (inherited dige
125  technologies unveil previously unrecognized digenic vulnerabilities that may be leveraged as new the

 
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