ライフサイエンスコーパス: Mendelian

1 t from having the concept of the effectively Mendelian allele, a companion to the effectively neutral

2 ormative pathogenicity scores, implying that Mendelian and common disease variants share similar prop

3 mapping recessive loci contributing to both Mendelian and complex disease risk.

4 More and more variants underlying Mendelian and complex diseases are being discovered and

5 elements with the potential to contribute to Mendelian and complex disorders of human vision.

6 d blurred the distinction between monogenic (Mendelian) and complex diseases.

7 We identified 95 Mendelian associations between genes and rare diseases,

8 COPA syndrome is a recently described Mendelian autoimmune disorder caused by missense mutatio

9 nction, many near well-established genes for Mendelian cardiomyopathies.

10 is probably the highest across any group of Mendelian conditions in humans.

11 could be improved in order to better detect Mendelian CRC-associated conditions.

12 ation efforts to determine their validity as Mendelian DCM genes but have limited value in diagnostic

13 A single Mendelian disease family is not sufficient to implicate

14 le to prioritize both dominant and recessive Mendelian disease genes(5), that outperforms missense co

15 Most notably, Mendelian disease genes, particularly those associated w

16 s particularly useful for determining causal Mendelian disease genes.

17 PhenoPro for prioritizing the causal gene of Mendelian disease given both the HPO terms assigned to a

18 protein products, an important predictor of Mendelian disease risk.

19 thogenicity scores prioritizing variants for Mendelian disease, little is known about the utility of

20 Here, we assess the informativeness of Mendelian disease-derived pathogenicity scores for commo

21 level filter parameters utilizing historical Mendelian disease-gene association discovery data.

22 dentify compound heterozygosity in recessive Mendelian diseases and discover genetic drivers and diag

23 ed individuals has important applications in Mendelian diseases and population genomics.

24 of next-generation sequencing (NGS) for the Mendelian diseases diagnosis is expanding, the performan

25 entage of cases, including patients who have Mendelian diseases with co-occurrent EoE, rare genetic v

26 in 92.9% of 384 case reports comprising 262 Mendelian diseases, and the correct diagnosis had a mean

27 s rapidly improving diagnostic rates in rare Mendelian diseases, but even with whole genome or whole

28 might underlie tissue-specific phenotypes of Mendelian diseases.

29 is, mechanistic discovery and diagnostics of Mendelian diseases.

30 ce of SVs as a genomic mechanism in unsolved Mendelian diseases.

31 ice for the diagnosis of the causal genes of Mendelian diseases.

32 Here, we describe in detail a Mendelian disorder caused by the disruption of DNA demet

33 eptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmoplantar keratoderma an

34 quintessential epigenetic mark, yet no human Mendelian disorder of DNA demethylation has yet been del

35 ic heterogeneity support a model of PAH as a Mendelian disorder with complex disease features.

36 functional mutational signatures relevant to Mendelian disorders and the prioritization of de novo mu

37 hy, broadening the spectrum of this group of Mendelian disorders caused by alterations in epigenetic

38 TET3 deficiency and other Mendelian disorders of the epigenetic machinery show sub

39 n age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected.

40 Mendelian disorders with cutaneous manifestations compri

41 sal regulatory variants for common diseases, Mendelian disorders, and cancers.

42 phenotype associated with a spectrum of rare Mendelian disorders.

43 of non-rare variants in relatively prevalent Mendelian disorders.

44 asis for investigating their contribution to Mendelian disorders.

45 arly highly penetrant contributors to severe Mendelian disorders.

46 y, FamANC was able to correct all identified Mendelian errors and most of double crossovers.

47 n the collagen genes COL4A1 and COL4A2 cause Mendelian eye, kidney and cerebrovascular disease includ

48 renia is a complex genetic disorder, the non-Mendelian features of which are likely complicated by ep

49 ial hyperkalemic hypertension (FHHt), a rare Mendelian form of human arterial hypertension.

50 -growing number of genes have been linked to Mendelian forms of dystonia, the cellular, anatomical, a

51 Early linkage analysis studies in Mendelian forms of these diseases, such as hypertrophic

52 athogenic variants, considered indicative of Mendelian forms.

53 lethal, generated Brca1(CC/Delta11) mice at Mendelian frequencies that were indistinguishable from B

54 , and we have shown that this is a result of Mendelian gene variants lowering the age of onset, rathe

55 earning method had higher sensitivity in the mendelian genes (prostate cancer: 99.7% vs 95.1% [differ

56 Genomics (ACMG) and 5197 clinically relevant mendelian genes.

57 Huntington's disease (HD) is a well studied Mendelian genetic disorder, less is known about its asso

58 Mendelian genetics attributes loss-of-function mutations

59 roaches from Drosophila mutagenesis to human Mendelian genetics have aided our understanding of the m

60 al disorders at the interface of complex and Mendelian genetics.

61 Sequence of the near-Mendelian haplotype reveals eleven causal mutation candi

62 We suggest that the group of Mendelian inborn errors of immunity referred to as the t

63 Online Mendelian Inheritance in Man, the Functional Annotation

64 The reconciliation between Mendelian inheritance of discrete traits and the genetic

65 and demonstrate its ability to promote super-Mendelian inheritance of the separate transgenes.

66 We induced super-Mendelian inheritance of the X-chromosome-shredding I-Pp

67 e primate-specific and less likely to have a Mendelian inheritance pattern, and they tend to cluster

68 drives are genetic elements that manipulate Mendelian inheritance ratios in their favour.

69 opagation of a genetic element that bypasses Mendelian inheritance which can be used to bias sex dete

70 ay occur sporadically or as a consequence of Mendelian inheritance, for example in cystic fibrosis, p

71 nonsyndromic birth defects often exhibit non-Mendelian inheritance, incomplete penetrance or variable

72 and high-frequency (>80%) production of non-Mendelian inheritance, the facile and simultaneous homoz

73 Among genes with non-Mendelian inheritance, variants in APOL1 have the larges

74 ransmission above the 50% value predicted by Mendelian inheritance.

75 ssays to consistently generate and track non-Mendelian inheritance.

76 s in Parkinson disease: Mendelian versus non-Mendelian inheritance.

77 leles or by selfishly distorting the laws of Mendelian inheritance.

78 ed the inbred ancestry of infections and non-Mendelian inheritance.

79 cKL knockdown mice than would be expected by mendelian inheritance.

80 were also conducted for genes implicated in Mendelian kidney diseases.

81 liconius melpomene and Heliconius erato some Mendelian loci affecting mimicry shifts are well known.

82 nisms by which the background interacts with Mendelian loci remain unclear.

83 f continuous variation being due to multiple Mendelian loci remains unchanged.

84 of which 4 loci included genes implicated in mendelian long-QT syndrome.

85 elatively common variants, following a quasi-Mendelian model linking monogenic and complex inheritanc

86 test (ANEVA-DOT) applied to AE data from 70 Mendelian muscular disease patients showed accuracy in d

87 gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism.

88 therapeutic approaches could be employed in Mendelian phenotypes caused by the dysfunction of the hu

89 hreshold (P < 1.9 x 10(-3)) were followed by Mendelian randomisation (MR) analyses to test for causal

90 rther probe causal relationships, two-sample Mendelian randomisation (MR) analyses were conducted, wi

91 Mendelian randomisation (MR) analysis is an important to

92 ential causality of these associations using Mendelian randomisation (MR) analysis.

93 This mendelian randomisation (MR) study sought to investigate

94 pid traits implemented through multivariable Mendelian randomisation (MR), we sought to compare their

95 ationship between LBW and lung function with Mendelian randomisation analyses and studied angiogenesi

96 In two-sample Mendelian randomisation analyses, using summary genetic

97 Summary-data-based Mendelian Randomisation analysis of the eBMD GWAS and os

98 Mendelian Randomisation analysis supports a potential ca

99 Mendelian randomisation analysis supports causal roles f

100 The use of Mendelian randomisation as a foundation for intervention

101 ing methylation and expression data within a Mendelian randomisation framework identified putatively

102 ed large genome-wide association studies and Mendelian randomisation methods to reduce confounding to

103 hted Mendelian randomisation, and four other Mendelian randomisation methods, to test whether smoking

104 This Personal View considers whether Mendelian randomisation provides a solution to these dif

105 Mendelian randomisation shows causal neonatal gene expre

106 Future Mendelian randomisation studies of aortic haemodynamic e

107 In addition to LDL cholesterol, mendelian randomisation studies support a causal role fo

108 current smoking, may be suitable for future Mendelian randomisation studies.

109 nsitivity analyses, we find no evidence with Mendelian randomisation techniques that smoking causes A

110 The results of Mendelian randomisation using the inverse variance weigh

111 as the outcome for inverse variance weighted Mendelian randomisation, and four other Mendelian random

112 and used one-sample two stage least squares Mendelian randomization (2SLS MR) to show a causal relat

113 We performed a generalized summary Mendelian randomization (GSMR) analysis using summary st

114 e explored causal associations with 2-sample Mendelian randomization (MR) accounting for genetic cova

115 Mendelian randomization (MR) allows the evaluation of th

116 We performed Mendelian randomization (MR) analyses of the effects of

117 essure in the UK Biobank population and used Mendelian randomization (MR) analyses using the ~750 000

118 sion, polygenic risk scoring, and two-sample Mendelian randomization (MR) analyses were used to inves

119 reference and food intake is now possible in Mendelian randomization (MR) analyses.

120 We used these estimates to conduct Mendelian Randomization (MR) analyses.

121 Two-sample Mendelian randomization (MR) analysis estimates a causal

122 Mendelian randomization (MR) analysis identified several

123 ied in epigenome-wide analyses, we conducted Mendelian randomization (MR) analysis to examine their r

124 betes and performed two-sample bidirectional Mendelian randomization (MR) analysis to prioritize our

125 Two-sample summary data mendelian randomization (MR) analysis was performed to i

126 In Mendelian randomization (MR) analysis, variants that exe

127 nvolved in disease development, we performed Mendelian randomization (MR) analysis.Methods: RNA seque

128 proteins on 225 phenotypes using two-sample Mendelian randomization (MR) and colocalization.

129 Genetic analyses used Mendelian randomization (MR) and data from 394 waist-to-

130 tween pubertal maturation and asthma through Mendelian randomization (MR) and explored the joint effe

131 UK Biobank (n = 321,047) by using two-sample Mendelian randomization (MR) and then replicated this in

132 then be used as instrumental variables in a Mendelian randomization (MR) approach to identify the ca

133 systolic blood pressure and generated linear Mendelian randomization (MR) estimates for the effect of

134 amine genetic variation in height within the Mendelian randomization (MR) framework to determine whet

135 7 patients with ALS and 23,475 controls in a Mendelian randomization (MR) framework.

136 Mendelian randomization (MR) is a valuable tool for dete

137 Mendelian randomization (MR) is an analytic technique us

138 Mendelian randomization (MR) is an epidemiological techn

139 Mendelian randomization (MR) is the use of genetic varia

140 ssion analyses and 2-sample regression-based Mendelian randomization (MR) mediation analysis were per

141 Here, we present a probabilistic Mendelian randomization (MR) method, PMR-Egger, for TWAS

142 ensitivity analyses, including complementary Mendelian randomization (MR) methods, and secondary alco

143 One-sample Mendelian randomization (MR) of 116,419 Danish individua

144 One-sample Mendelian randomization (MR) of 17,311 European individu

145 ci provide useful tools for causal analyses: Mendelian randomization (MR) studies have provided evide

146 We conducted a Mendelian randomization (MR) study to disentangle the co

147 The objective of this two-sample Mendelian randomization (MR) study was to analyze their

148 Applying the principles of Mendelian randomization (MR) systematically across the g

149 et of valid genetic variants is critical for Mendelian randomization (MR) to correctly infer risk fac

150 We applied 2-sample Mendelian randomization (MR) to estimate the causal effe

151 We therefore use Mendelian randomization (MR) to evaluate whether obesity

152 We used two-sample Mendelian randomization (MR) to examine whether this ass

153 We used Mendelian randomization (MR) to predict the effect of al

154 Two-sample Mendelian randomization (MR) was used to infer the causa

155 Two-sample Mendelian randomization (MR) was used to infer the causa

156 ma sRAGE as a causal intermediate in ARDS by Mendelian randomization (MR), a statistical method to in

157 tivity traits implemented through two-sample Mendelian randomization (MR), we sought to strengthen th

158 ; triglycerides, TGs) with risk for BC using Mendelian randomization (MR).

159 the potential of a causal association using Mendelian randomization (MR).

160 Mendelian Randomization (MR-Base) R package was used in

161 elian randomization (SVMR) and multivariable Mendelian randomization (MVMR) to simultaneously assess

162 estry, we conducted 2-sample single-variable Mendelian randomization (SVMR) and multivariable Mendeli

163 Here we describe methods for within-family Mendelian randomization analyses and use simulation stud

164 (BMI), and PWD were assessed using 2-sample Mendelian randomization analyses based on published geno

165 The Mendelian randomization analyses confirmed strong eviden

166 Mendelian randomization analyses demonstrate that reduce

167 Mendelian randomization analyses did not provide evidenc

168 equently used as an instrumental variable in Mendelian randomization analyses for homeostatic modelin

169 Mendelian randomization analyses in independent samples

170 wn placenta imprinted genes, including KCNQ1 Mendelian randomization analyses revealed five loci wher

171 ted with several adverse health outcomes and Mendelian randomization analyses show a genetic associat

172 Mendelian randomization analyses show that genetic estim

173 Multivariable Mendelian randomization analyses showed that BMI account

174 Mendelian randomization analyses suggest that FVII activ

175 Mendelian randomization analyses suggested that blood tr

176 One-sample Mendelian randomization analyses suggested that the asso

177 Mendelian randomization analyses suggested that triglyce

178 tivariable-adjusted regressions and 2-sample Mendelian randomization analyses to assess observational

179 We conducted Mendelian randomization analyses using variants in genes

180 Mendelian randomization analyses were performed to infer

181 We conducted Mendelian randomization analyses where genetic variants

182 HUNT]), and carried out linear and nonlinear Mendelian randomization analyses.

183 titative trait locus, and summary data-based mendelian randomization analyses.

184 ts were strongly attenuated in within-family Mendelian randomization analyses.

185 Mendelian randomization analysis did not support a causa

186 Mendelian randomization analysis has recently suggested

187 A bidirectional two-sample Mendelian randomization analysis indicated that serum ch

188 We conducted a Mendelian randomization analysis to assess the causal re

189 Mendelian randomization analysis was able to estimate as

190 In our mendelian randomization analysis, we demonstrate that a

191 e to their expression variations through the Mendelian randomization analysis.

192 92 putatively causal CpGs for CVD traits by Mendelian randomization analysis.

193 This study utilized integrative analysis of Mendelian randomization and colocalization to uncover ca

194 different epidemiological approaches (e.g., mendelian randomization and negative control studies) sh

195 from conventional multivariable studies and Mendelian randomization and stronger than those from cli

196 a multiomics data analysis approach based on Mendelian randomization and utilized it to search for mo

197 Using a two-sample Mendelian randomization approach we found support that A

198 g lipids and cardiovascular outcomes using a Mendelian randomization approach.

199 Applying two-sample Mendelian randomization approaches we investigated assoc

200 and of complex traits and the suitability of Mendelian randomization as a causal inference strategy f

201 e-variance weighted method and multivariable Mendelian randomization as our main analytical approache

202 Mendelian randomization confirmed a direct positive effe

203 We used the Mendelian randomization design to explore the potential

204 A Mendelian randomization design was used to investigate g

205 This unbiased Mendelian Randomization estimate is consistent with a pr

206 We meta-analyzed Mendelian randomization estimates for regional variants

207 However, while Mendelian randomization estimates from samples of unrela

208 were combined into multi-allelic models and mendelian randomization estimates representing lifelong

209 Both Mendelian randomization estimates using unrelated indivi

210 r, only a subset of factors was supported by Mendelian randomization evidence, including confiding in

211 Moreover, Mendelian randomization evidenced a positive association

212 joint-tissue imputation (JTI) approach and a Mendelian randomization framework for causal inference,

213 Mendelian randomization identified 4 putatively causal p

214 Mendelian randomization identified a causal relationship

215 Mendelian randomization is an established method to asse

216 usal effect of BMI on diabetes by using four Mendelian randomization methods, where a total of 76 ind

217 gate why, this study applies a multivariable Mendelian randomization of intelligence and education.

218 A multivariable Mendelian randomization of schooling years and bipolar d

219 Integrative annotation using two-sample Mendelian randomization of these methylation regions hig

220 Here we report multivariable Mendelian randomization performed in a two-sample approa

221 We used a Mendelian randomization phenome-wide association study (

222 CI = -0.12 to -0.02), which in multivariable Mendelian randomization remained stable after adjustment

223 Mendelian randomization reveals stronger instrumental es

224 (model A) and longer-term benefits based on Mendelian randomization studies (model B).

225 usal pathways for hypertension identified in Mendelian randomization studies and highlight the opport

226 Mendelian randomization studies and randomized trials ha

227 ning the formal testing of this interaction (Mendelian randomization studies assessing whether T2D is

228 Replication Mendelian randomization studies could assess this furthe

229 Mendelian randomization studies of LDL-C and IS have rep

230 Estimates from Mendelian randomization studies of unrelated individuals

231 population structure and familial effects in Mendelian randomization studies.

232 obesity on lifespan was further supported by Mendelian randomization studies.

233 ed in a meta-analysis of this and a previous Mendelian randomization study (OR 1.08; 95% CI 1.02, 1.1

234 We conducted a two-sample Mendelian randomization study to investigate the associa

235 We conducted a two-sample Mendelian randomization study to investigate the causal

236 Mendelian randomization suggested causal association of

237 Mendelian randomization suggested causal effects on liab

238 Multivariable Mendelian randomization suggested possible inverse effec

239 Mendelian randomization suggests benefits of long-term i

240 Mendelian randomization suggests our top healthful dieta

241 Mendelian randomization supports a stronger causal relat

242 We used Mendelian randomization to assess the role of thyroid dy

243 We used 2-sample Mendelian randomization to consider the impact of birthw

244 We then used mendelian randomization to examine the causal effects of

245 associated with plasma proteins followed by Mendelian randomization to infer causal relations of pro

246 We applied summary-data-based Mendelian randomization to integrate ADHD and ASD GWAS d

247 We subsequently used summary-data-based Mendelian randomization to investigate if the same varia

248 We used Mendelian Randomization to obtain unconfounded estimates

249 tion analysis (moloc) and summary data-based Mendelian randomization to systematically annotate genom

250 In this study, we apply the principles of Mendelian randomization to systematically evaluate trans

251 We used two-sample Mendelian randomization to test for genetic evidence of

252 We also performed Mendelian randomization using 8 genetic variants associa

253 Two-sample Mendelian randomization using TSH index variants as inst

254 Mendelian randomization was consistent with genetically

255 Two-sample Mendelian randomization was then used to validate potent

256 Using two-sample Mendelian randomization we analysed the association of g

257 Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, d

258 Summary data for 2-sample Mendelian randomization were obtained from genome-wide a

259 Using one-sample Mendelian randomization with data from the UK Biobank (N

260 Here we use Mendelian randomization, an instrumental variables techn

261 , followed by clinical association analyses, Mendelian randomization, and functional characterization

262 studies, whole-exome analysis, fine mapping, Mendelian randomization, and transcriptomic data analyse

263 the results using multiple analyses such as Mendelian randomization, functional assessment, co local

264 chitecture of miscarriage with biobank-scale Mendelian randomization, heritability, and genetic corre

265 etic correlation, cross-trait meta-analysis, Mendelian randomization, polygenic risk score, and funct

266 studies with cardiac disease phenotypes and Mendelian randomization, we find a causal relationship b

267 Using Mendelian randomization, we found evidence that hyperlip

268 r repurposing of licensed medications: using Mendelian randomization, we found evidence that low expr

269 Using the framework of 2-sample Mendelian randomization, we found that a 1-SD genetic el

270 he polling station, genetic correlations and Mendelian randomization, we show that there is a substan

271 Additionally, using Mendelian randomization, we were able to identify causal

272 e directionally concordant with observed and Mendelian randomization-inferred associations for GP-5,

273 y to be causally related to depression using Mendelian randomization.

274 ids, and glycaemic traits), using two-sample Mendelian randomization.

275 on observationally and with validation using Mendelian Randomization.

276 th SVS, but not other stroke subtypes, using Mendelian randomization.

277 for causal relationships with multivariable Mendelian randomization.

278 nction using both observational analysis and Mendelian randomization.

279 EIF4EBP, and RP-S6K circulating levels using Mendelian Randomization.

280 antly, both PrediXcan and summary-data-based Mendelian randomization/heterogeneity in dependent instr

281 METTL5-deficient mice are born at non-Mendelian rates and develop morphological and behavioral

282 -) mice were born at a significantly reduced Mendelian ratio and exhibited high mortality between 3 t

283 amin A/C and emerin are born at the expected Mendelian ratio but had a shorter lifespan than those on

284 a KO:Het:WT ratio approximating the expected Mendelian ratio of 1:2:1.

285 d progeny of R1 plants, Tnt1 segregated in a Mendelian ratio of 3:1 and no new Tnt1 transposition was

286 uble mutant embryos is lower than that for a Mendelian ratio, indicating deletion of Thm1 and Thm2 ca

287 Gpr27 knockout mice were born at expected Mendelian ratios and exhibited no gross abnormalities.

288 ZO-1cKO mice were viable, had normal Mendelian ratios, and had a normal lifespan.

289 c25a28 (encoding Mfrn2) are born at expected Mendelian ratios, but show decreased male fertility due

290 lete a genetic cross in vitro, demonstrating Mendelian segregation of chromosomes during meiosis.

291 Our data show that the Mendelian short telomere syndromes are associated with a

292 sms and a continuum between genes underlying Mendelian small vessel disease and those contributing to

293 this altered DC functionality contributes to Mendelian susceptibility to mycobacterial disease upon S

294 In humans, absence of SPPL2a leads to Mendelian susceptibility to mycobacterial disease, which

295 Here, we define the clinical features of the Mendelian syndrome associated with haploinsufficiency of

296 We named this new Mendelian syndrome CATIFA (cleft lip, cataract, tooth ab

297 In addition to Mendelian syndromes such as alpha-1 antitrypsin deficien

298 atosis type 2 (NF2) is an autosomal dominant Mendelian tumor predisposition disorder caused by germli

299 he cause of an unreported autosomal dominant mendelian tumor susceptibility syndrome: familial multin

300 (2016) Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.