1 th on Irish history, as well as the study of
Mendelian and complex disease genetics involving populat
2 mapping recessive loci contributing to both
Mendelian and complex disease risk.
3 domestic dog that has emerged as a model for
Mendelian and complex traits.
4 essential and significantly associated with
Mendelian and orphan diseases, or somatic mutations in c
5 support future human genetic discoveries in
Mendelian and population genetics.
6 ction of non-coding variants associated with
Mendelian and with complex diseases.
7 experimental genetic tools, both classical (
Mendelian)
and molecular.
8 ping and gene-expression analysis to map the
Mendelian blue locus, which abolishes yellow pigmentatio
9 Mendelian causes of inherited cancer susceptibility are
10 Familial combined hypolipidemia, a
Mendelian condition characterized by substantial reducti
11 th well-established inheritance patterns for
Mendelian conditions, and repeated cross-validation that
12 f 13 adults harboring mutations for 8 severe
Mendelian conditions, with no reported clinical manifest
13 and six have been reported to underlie known
Mendelian conditions.
14 ecause the overall fraction of patients with
Mendelian defects is low, the number of potential candid
15 variants seen in 187 overlapping genes with
Mendelian disease associations in 1566 patients who had
16 Mutations in non-cancer-related
Mendelian disease genes were seen in 55 of 1566 cases (3
17 fies incidental rare variants in established
Mendelian disease genes, but the frequency of related cl
18 nriched for amino acid changing variants and
Mendelian disease genes.
19 to which non-coding mutations contribute to
Mendelian disease is a major unknown in human genetics.
20 ig also provides insights into understanding
Mendelian disease mutations and as a tool for guiding pr
21 When investigating
Mendelian disease using exome or genome sequencing, dist
22 ur knowledge, the first detection of a known
Mendelian disease variant in prehistory.
23 he application of whole-genome sequencing in
Mendelian disease, especially for single-nucleotide and
24 notypes in over 5 million simulated cases of
Mendelian disease, identifying 39% of disease genotypes
25 esumed pathogenic germline variants in known
Mendelian disease-associated genes were identified in 24
26 nriched in embryonic lethal mouse knockouts,
Mendelian disease-associated genes, and regulators of tr
27 inflammatory bowel disease (IBD) as well as
Mendelian disease-associated IBD.
28 We apply MAPPIN to a set of
Mendelian disease-causing mutations and accurately predi
29 ectly predict human (OMIM) and animal (OMIA)
Mendelian disease-causing variants.
30 Using data from
Mendelian disease-gene discovery projects, we show that
31 nderstanding of the continuum of complex and
Mendelian disease.
32 gh some affect essential genes implicated in
Mendelian disease.
33 tion and discovery of regulatory variants in
Mendelian disease.
34 that could help elucidate the mechanisms of
Mendelian diseases and new therapeutic strategies.
35 The expressivity of
Mendelian diseases can be influenced by factors independ
36 stantial progress in revealing the causes of
Mendelian diseases can be made by exploring the non-codi
37 determine the degree of overlap between two
mendelian diseases in the same patient; the diseases can
38 To date, only 4 genes are known to cause
Mendelian diseases in which congenital hydrocephalus is
39 also indicate that incomplete penetrance for
Mendelian diseases is likely more common than previously
40 y unrecognized feature of SE architecture in
Mendelian diseases of immunity: heterozygous mutations i
41 ed in trans is well-established in recessive
Mendelian diseases, we have not yet explored how such ge
42 uals of diverse ancestries and families with
Mendelian diseases.
43 ectively look for ITD's in other cancers and
Mendelian diseases.
44 to associate regulatory variants to specific
Mendelian diseases.
45 essment of variants in genes associated with
Mendelian diseases.
46 Patients with this autosomal recessive
Mendelian disorder display constitutional genomic instab
47 , lead to a previously undescribed recessive
Mendelian disorder in the progressive symmetric erythrok
48 ylase, represents a rare autosomal recessive
Mendelian disorder of aberrant sex steroid production.
49 XL2 has not yet been associated with a human
Mendelian disorder.
50 yndrome than to be a causal gene for another
Mendelian disorder.
51 The genetic and molecular dissection of rare
Mendelian disorders associated with constitutive overpro
52 expands an increasingly recognized group of
Mendelian disorders involving chromatin remodeling and m
53 tion of dominant (monoallelic) mutations for
Mendelian disorders is more difficult, because of the ab
54 gmentosa (RP) encompasses a diverse group of
Mendelian disorders leading to progressive degeneration
55 hesis pathways have been implicated in a few
Mendelian disorders of keratinization, although ceramide
56 cally and genetically heterogeneous group of
Mendelian disorders primarily affecting photoreceptor ce
57 hom the phenotype resulted from two distinct
mendelian disorders that affected different organ system
58 s and mutations associated with the commoner
Mendelian disorders were first discovered, technological
59 disease risk (MDR) results (associated with
Mendelian disorders), carrier variants, pharmacogenomic
60 Across a variety of
Mendelian disorders, approximately 50-75% of patients do
61 f the more common lethal autosomal recessive
Mendelian disorders, is presented here as an example.
62 Indeed, that several non-
Mendelian disorders, most particularly systemic lupus er
63 the global efforts to collect subjects with
Mendelian disorders, to better define the disorders and
64 to discover variants associated to specific
Mendelian disorders.
65 ty of gene-disease pairs across a variety of
Mendelian disorders.
66 cantly more likely to be a causal gene for a
Mendelian epilepsy syndrome than to be a causal gene for
67 SNP, indel and complex polymorphisms, using
Mendelian error rates as an indicator of genotypic accur
68 type calling accuracy and reduce phasing and
Mendelian errors, especially at low to modest coverage.
69 viable Sgta(-/-) offspring, but at less than
Mendelian expectancy.
70 We investigated the genetic basis of a
Mendelian female-limited color dimorphism (FLCD) that se
71 ify SLC26A1 mutations as causing a recessive
Mendelian form of nephrolithiasis.
72 Mendelian forms of hydrocephalus account for a small fra
73 more than 500 genes have been implicated in
Mendelian forms of ID.
74 ct the function of this neural circuit cause
Mendelian forms of obesity.
75 th the assumption that these cases represent
Mendelian forms of the disease.
76 Pus1(-/-) mice were born at the expected
Mendelian frequency and were non-dysmorphic.
77 Carriers of additional
Mendelian gene variants have younger ages at onset (AAO)
78 n of additional rare variants in established
Mendelian genes and/or GBA, in individuals with and with
79 hods (more clinical focus, considering known
Mendelian genes, in PhenIX, versus gene discovery in Exo
80 866 samples in the Baylor-Hopkins Center for
Mendelian Genomics (BHCMG) cohort and detected 773 HMZ d
81 U54HG006542 to the Baylor-Hopkins Center for
Mendelian Genomics, and US National Institute of Neurolo
82 Building upon OMIA (Online
Mendelian Inheritance in Animals), we introduced a curat
83 multicentric carpotarsal osteolysis (Online
Mendelian Inheritance in Man #166300), a pathology cause
84 Kleefstra syndrome (KS) (
Mendelian Inheritance in Man (MIM) no.
85 EIEE13 [Online
Mendelian Inheritance in Man (OMIM) # 614558] is caused
86 pe III, or familial dysautonomia [FD; Online
Mendelian Inheritance in Man (OMIM) 223900], affects the
87 itization algorithms on diseases from Online
Mendelian Inheritance in Man (OMIM) database.
88 tly fewer nonsynonymous singletons in Online
Mendelian Inheritance in Man (OMIM) disease genes compar
89 ed relationship networks based on the Online
Mendelian Inheritance in Man database and our identified
90 ticles, GWAS meta-analyses, and OMIM (Online
Mendelian Inheritance in Man).
91 Online
Mendelian Inheritance in Man, OMIM((R)), is a comprehens
92 Non-
Mendelian inheritance of a selectable marker (neo), used
93 Gene drive systems that enable super-
Mendelian inheritance of a transgene have the potential
94 idence, to date, in support of the classical
Mendelian inheritance of Bardet-Biedl syndrome and other
95 lies did not differ from that expected given
Mendelian inheritance of such an allele.
96 hough experimental crosses have revealed the
Mendelian inheritance of this trait, its genetic basis r
97 trio confirmed read ratios inconsistent with
Mendelian inheritance only in the proband.
98 function, such as identifying variants with
Mendelian inheritance or identifying shared chromosomal
99 eer "anti-prion drives" that reverse the non-
Mendelian inheritance pattern of prions and eliminate th
100 ed recurrently, explaining the seemingly non-
mendelian inheritance pattern.
101 lls from CLAMMS and four other algorithms to
Mendelian inheritance patterns on a pedigree; we compare
102 Glaucoma can occur at all ages, with
Mendelian inheritance typical for the rare early onset d
103 Mendelian inheritance via gametocyte integration results
104 In addition, non-
Mendelian inheritance was found among progeny of A1cf an
105 ias their transmission into gametes, defying
Mendelian inheritance.
106 However, in this study we show that
Mendelian inherited CTNNB1 mutations can cause non-syndr
107 Kabuki syndrome is a
Mendelian intellectual disability syndrome caused by mut
108 For example, mutations in PPARG cause
Mendelian lipodystrophy and increase risk of type 2 diab
109 une diseases, but BACH2 mutations that cause
Mendelian monogenic primary immunodeficiency have not pr
110 Mendelian mutations in ALAS2 are a cause of sideroblasti
111 c noncirrhotic portal hypertension, in which
Mendelian mutations may account for disease.
112 f evolutionary conservation and incidence of
Mendelian mutations, suggestive of important functional
113 Neither APOL1 risk group was enriched for
Mendelian mutations.
114 homeostatic control of this system caused by
Mendelian mutations.
115 in exons harboring dominant versus recessive
Mendelian mutations.
116 and renal histomorphometry and sequencing of
Mendelian nephrotic syndrome genes were performed.
117 Mendelian neuropsychiatric disorders are rare but their
118 missense variants in PKLR, a gene mutated in
Mendelian non-spherocytic hemolytic anemia, associated w
119 twork capable of triggering obesity in a non-
Mendelian, "
on/off" manner.
120 Traits are defined as
Mendelian or complex based on family pedigree and popula
121 ial to identify patients with a CI defect of
Mendelian origins, whilst highlighting the necessity of
122 c cause had >/=1 additional rare variants in
Mendelian PD genes, as compared with no known mutation P
123 ghlights the potential genetic complexity of
Mendelian PD.
124 and optic atrophy (PEHO) syndrome is a rare
Mendelian phenotype comprising severe retardation, early
125 Our findings document the first
Mendelian phenotype due to a biallelic FANCM mutation.
126 at EG-GWAS can identify loci associated with
Mendelian phenotypes both within and across breeds.
127 TPM4 cause a previously undescribed dominant
Mendelian platelet disorder.
128 the spatiotemporal consequences of the super-
Mendelian population genetics before potential applicati
129 tuberculosis infection and of patients with
Mendelian predisposition to severe tuberculosis have sta
130 dividuals, with the most extreme cases being
Mendelian primary immunodeficiencies (PIDs).
131 e Werner syndrome (WS) is a prototypic adult
Mendelian progeroid syndrome in which signs of premature
132 ased inheritance that shares many of the non-
Mendelian properties of prions.
133 Our aim was to use
Mendelian randomisation (MR) to investigate the causal e
134 To our knowledge,
Mendelian randomisation (MR)-the use of genetic instrume
135 es were included as covariates, and an Egger
Mendelian randomisation (MR-Egger) analysis to estimate
136 GWAS findings have also been used in
mendelian randomisation analyses probing the causal asso
137 ventional, multivariable adjusted, and Egger
Mendelian randomisation analysis (58 studies; 198 598 in
138 Conventional and multivariate
Mendelian randomisation analysis implicates a causal rol
139 In this study we applied
Mendelian randomisation analysis using 17 genetic varian
140 te, we additionally did both a multivariable
Mendelian randomisation analysis, in which the genetic a
141 Egger
Mendelian randomisation analysis, which accounts for ple
142 f urate on coronary heart disease risk using
Mendelian randomisation analysis.
143 We then used a conventional
Mendelian randomisation approach to investigate the caus
144 Mendelian randomisation studies from Asia suggest detrim
145 igher cancer risk, associations supported by
mendelian randomisation studies.
146 Using a
mendelian randomisation study design and genetic data on
147 In this
mendelian randomisation study, we measured lipoprotein(a
148 In this
mendelian randomisation study, we used data from cohort
149 Using
mendelian randomisation the association among MTHFR C677
150 Using a
Mendelian randomisation(MR) approach, we examined the ca
151 Therefore, we elected to perform
Mendelian randomization (MR) analyses to evaluate whethe
152 We performed
Mendelian randomization (MR) analyses using two genetic
153 Mendelian randomization (MR) analyses were performed to
154 We used the two-sample
Mendelian randomization (MR) approach to circumvent thes
155 c co-heritability analysis, and a two-sample
Mendelian Randomization (MR) design to determine if elev
156 Mendelian randomization (MR) is an increasingly importan
157 matitis, or elevated serum IgE levels, using
Mendelian randomization (MR) methodology to control bias
158 Mendelian randomization (MR) provides less confounded re
159 Mendelian randomization (MR) provides us the opportunity
160 n of this relation remains ambiguous.We used
Mendelian randomization (MR) to infer the direction of c
161 ionship between RA and AD was assessed using
Mendelian Randomization (MR), using summary data from th
162 DBP, respectively) in adults with the use of
Mendelian randomization (MR).
163 established and new methods for undertaking
Mendelian randomization (MR).
164 In this study, we used summary-data-based
Mendelian randomization (SMR), a method developed to ide
165 ltivariable regression in </=5909 adults and
Mendelian randomization (using cis-acting genetic varian
166 suitable genetic instrumental variables make
Mendelian randomization a time- and cost-efficient appro
167 Bidirectional
Mendelian randomization among up to 4,513 individuals of
168 Mendelian randomization analyses are consistent with a c
169 Mendelian randomization analyses did not support a causa
170 Mendelian randomization analyses evaluating the associat
171 owever, these findings were not supported by
Mendelian randomization analyses for most metabolites.
172 morphisms for WHRadjBMI were used to conduct
Mendelian randomization analyses in 14 prospective studi
173 Mendelian randomization analyses in current smokers show
174 Mendelian randomization analyses infer causal influences
175 Additional integrative
Mendelian randomization analyses of gene expression and
176 Mendelian randomization analyses showed increased risks
177 Mendelian randomization analyses suggest causal inverse
178 in whole blood gene expression and conducted
Mendelian randomization analyses to investigate the func
179 We carried out two-sample
Mendelian randomization analyses using the inverse-varia
180 Mendelian randomization analyses were conducted using su
181 Mendelian randomization analyses were performed using si
182 Mendelian randomization analyses were then performed usi
183 ctive cohort studies and further carried out
Mendelian randomization analyses, using height-associate
184 Mendelian randomization analysis did not provide evidenc
185 Mendelian randomization analysis indicated a positive ca
186 Mendelian randomization analysis may help to ascertain t
187 The sample size for the
Mendelian randomization analysis of colorectal cancer wa
188 Mendelian randomization analysis showed significant posi
189 Additionally, the
Mendelian randomization analysis suggests a causal relat
190 ts, type 2 diabetes, and CHD was tested in a
mendelian randomization analysis that combined case-cont
191 ity is a causal factor for VTE, we performed
Mendelian randomization analysis using a genetic risk sc
192 In a two-sample
Mendelian randomization analysis using genetic associati
193 We performed two sample bidirectional
Mendelian randomization analysis using single nucleotide
194 -based analysis and summary statistics-based
Mendelian randomization analysis, although further repli
195 nalyses and were also partially supported by
Mendelian randomization analysis, although this latter a
196 In a
Mendelian randomization analysis, genetically elevated b
197 Using inverse-variance weighted
Mendelian randomization analysis, we found support for a
198 Network
Mendelian randomization analysis-an approach using genet
199 al variable estimator for eGFR (P<0.01) in a
Mendelian randomization analysis.
200 nd evidence for a causal relationship in our
Mendelian randomization analysis.
201 redicted coffee consumption using two-sample
Mendelian randomization applied to large extensively gen
202 s study was to assess this hypothesis with a
Mendelian randomization approach that uses genetic varia
203 We used a two-step
Mendelian randomization approach to assess whether DNA m
204 nical medicine and drug discovery by using a
Mendelian randomization approach to interrogate the caus
205 Through a
Mendelian randomization approach, we assessed whether se
206 n D levels influence the risk of CAD using a
Mendelian randomization approach.
207 s applied to derive causal estimates using a
mendelian randomization approach.
208 Ls) from a broad range of tissues by using a
Mendelian randomization approach.
209 Under
mendelian randomization assumptions, our findings sugges
210 , then tested them for possible violation of
Mendelian randomization assumptions.
211 both observationally and genetically using a
Mendelian randomization design free of reverse causation
212 Also, genetic studies using the
Mendelian randomization design, an approach that minimiz
213 TL to increased risk of CHD using a network
Mendelian randomization design.
214 The first step
Mendelian randomization estimated that maternal vitamin
215 Here, we show that
Mendelian randomization estimates of total and direct ef
216 The second step
Mendelian randomization found weak evidence of a causal
217 We applied the
Mendelian randomization framework to evaluate the causal
218 We then conduct a 2-sample
Mendelian randomization investigation to assess the caus
219 Two-sample
Mendelian randomization investigation using published da
220 Mendelian randomization is the use of genetic variants a
221 tors limiting the assumption of causality in
Mendelian randomization may exist.
222 This review provides an overview of the
Mendelian randomization method, addresses assumptions an
223 We used two-sample
Mendelian randomization methods (inverse variance weight
224 istent results were obtained using different
mendelian randomization methods and a more conservative
225 e applied Egger regression and multivariable
Mendelian randomization methods to control for this type
226 ounding by lifestyle cannot be excluded, and
Mendelian randomization needs to be examined in a larger
227 The
Mendelian randomization odds ratio (OR) for CAD was 0.99
228 Mendelian randomization refers to an analytic approach t
229 Mendelian randomization requires large sample sizes, and
230 Mendelian randomization showed no causal relation betwee
231 disease, and outline opportunities to design
Mendelian randomization studies around kidney function a
232 Concurrently,
Mendelian randomization studies have provided intriguing
233 Mendelian randomization studies use genotypes as instrum
234 ed through the use of ecological, cohort, or
Mendelian randomization studies, each of which poses spe
235 association studies were used in a 2-sample
Mendelian randomization study design.
236 have performed a genome-wide association and
Mendelian randomization study of NT-proBNP.
237 We conducted a two-sample
Mendelian randomization study to test the hypothesis tha
238 with cognitive function among older men in a
Mendelian randomization study using a separate-sample in
239 We undertook a
Mendelian randomization study using data from genome-wid
240 nce in a sex-specific manner, we performed a
Mendelian randomization study using data from the Optima
241 Two-sample
mendelian randomization study using genetic variants ass
242 In this 2-stage
Mendelian randomization study, we first identified singl
243 nd features of skin aging in a bidirectional
Mendelian randomization study.
244 We used a two-sample
Mendelian randomization study.
245 Our results using
Mendelian randomization suggest that ALT reduces the ris
246 Further,
Mendelian randomization suggests that evening chronotype
247 The authors used 3 separate
Mendelian randomization techniques to evaluate the assoc
248 pharmacological effects of statins, we used
Mendelian randomization to assess associations of a gene
249 We used
Mendelian randomization to clarify the role of birth wei
250 We used
Mendelian randomization to estimate the causal effects o
251 We applied
Mendelian randomization to evaluate the association betw
252 The aim of this study was to use
Mendelian randomization to investigate whether cystatin
253 Genetic fine mapping and
Mendelian randomization uncover wide-spread causal effec
254 Mendelian randomization uses genetic variants as markers
255 In conclusion, multivariable
Mendelian randomization using summarized genetic data pr
256 We performed two-sample bi-directional
Mendelian randomization using summary level genomewide a
257 To circumvent confounding,
Mendelian randomization was applied in a subsample via t
258 Mendelian randomization was undertaken to assess a causa
259 ork that integrates genetic fine mapping and
Mendelian randomization with epigenome-wide association
260 We performed a
Mendelian randomization with instrumental variable analy
261 variable analysis with genetic instruments (
Mendelian randomization) was used in an extensively geno
262 l designs, instrumental variables (including
Mendelian randomization), family-based studies, and natu
263 iction and identification of instruments for
Mendelian randomization).
264 lar characterization of risk factors, use of
Mendelian randomization, and the key issues of study des
265 In
Mendelian randomization, genetic variants are used as un
266 Using 2-step epigenetic
Mendelian randomization, we investigated the role of DNA
267 Using two-sample
Mendelian randomization, we obtained unconfounded estima
268 Finally, through
Mendelian randomization, we provide evidence of shared g
269 use of instrumental variable methods such as
Mendelian randomization, which may be applied to evaluat
270 ents are related to diseases, we developed a
Mendelian randomization-based method combining 58 diseas
271 causal effect on type 2 diabetes risk using
Mendelian randomization.
272 d clarify diet-disease relationships through
Mendelian randomization.
273 tcomes and traits, such as pulse rate, using
mendelian randomization.
274 We performed a bi-directional
Mendelian randomization.
275 isease (CAD) and myocardial infarction using
mendelian randomization.
276 Among the
mendelian randomized analytic sample of 184305 individua
277 FLKO mice, while born at a normal
Mendelian ratio, developed severe anemia and exhibited p
278 s, and male Pgam5(-/-) mice were born at sub-
Mendelian ratio.
279 type, heterozygous, and homozygous mice in a
Mendelian ratio.
280 fl);Nr5a1-Cre(/+) mice were born at a normal
Mendelian ratio.
281 Nlrp2-deficient mice were born with expected
Mendelian ratios and that Nlrp2 was dispensable for inna
282 PAK4 knock-out (KO) mice were born at
Mendelian ratios in both genders.
283 xpress KrasG12D in utero, are born at normal
Mendelian ratios, develop hepatosplenomegaly, anemia, an
284 uti, and genotypes at this locus obey simple
Mendelian recessive inheritance of the black-throated ph
285 ion to induce spindle asymmetry and that non-
Mendelian segregation depended on this asymmetry.
286 eny (C1) of these plants showed the expected
Mendelian segregation of EPSPS edits.
287 Biased, or non-
Mendelian,
segregation is frequently observed but not we
288 fecting age at onset and age at death in the
Mendelian subgoup of FTLD-TDP due to expansions of the C
289 confirmed through analysis of patients with
Mendelian susceptibility to mycobacterial disease due to
290 Mendelian susceptibility to mycobacterial disease is a r
291 The non-
Mendelian systems rely on programmed editing of the germ
292 pe determination differ widely, ranging from
Mendelian systems to developmental nuclear differentiati
293 l of diverse collections and GWA for mapping
Mendelian traits to a candidate-gene level in melon.
294 nformation to rare variants in families with
Mendelian traits.
295 en methods that do versus do not make use of
Mendelian transmission in pedigrees, because this serves
296 Sex chromosome meiotic drive, the non-
Mendelian transmission of sex chromosomes, is the expres
297 Joint modeling approaches leveraging
Mendelian transmission within the parent-offspring trio
298 The effect of additional
Mendelian variants in LRRK2 G2019S mutation carriers, of
299 gest that the oligogenic inheritance of rare
Mendelian variants may be important in patient with a pr
300 nsynonymous SNVs is significantly higher for
Mendelian versus complex disease loci and in exons harbo