ライフサイエンスコーパス: proband

1 y measurement identified osteoporosis in one proband.

2 through whole-exome sequencing (WES) of the proband.

3 .616G>A, p.(Asp206Asn)] in the mother of the proband.

4 sequencing confirmed the new mutation in the proband.

5 year(s) after test result disclosure to the proband.

6 s, leading to rapid genetic diagnosis of the probands.

7 identified in Non-Hispanic African ancestry probands.

8 t diagnosis and disease variant discovery in probands.

9 was severely reduced in fibroblasts from two probands.

10 mutations and heterogeneity in the IQ of ASD probands.

11 two SSBI phenotypes from parents to autistic probands.

12 te variants in 56 of 557 (10%) unrelated HCM probands.

13 9738 exome sequenced trios with DD-affected probands.

14 volume, and lower structural connectivity in probands.

15 n 68% and more than 20 years in one third of probands.

16 variants in SPTBN2 as causative in three DDD probands.

17 and third-degree relatives of OCD and TD/CTD probands.

18 tively, these mutations contribute to 10% of probands.

19 t probands from those (n = 91) of the latest probands.

20 iabetes was the presenting feature in 6 of 9 probands.

21 creening is positive in approximately 50% of probands.

22 iopsies and whole peripheral blood of living probands.

23 ntly more cortical inhibition than their SCZ probands.

24 nts or offspring) of 2122 unrelated vitiligo probands.

25 c risk were significantly overtransmitted to probands.

26 applied to 2059 variants in a test set of 97 probands.

27 lar intellectual phenotypes in unrelated ASD probands.

28 Of the probands, 14 had a clinical diagnosis of homozygous FH a

29 Twenty-three probands (16.1%) and 4 affected relatives (2.8%) (mean [

30 to retinal function were found in another 11 probands (16.4%), but the clinical correlations showed i

31 A total of 5 of 29 probands (17.2%) with a strong family history of neurops

32 Two probands, 2.5 and 22-year-old, with the same homozygous

33 We studied: 42 ARVC probands, 23 male, aged 42, interquartile range 33-49, 2

34 total of 112 individuals, including 36 CPVT probands (24 homozygotes/compound heterozygotes and 12 h

35 r diagnosis was identified in a further 3/12 probands (25%).

36 hythmogenic right ventricular cardiomyopathy probands, 322 (64.3%) carried 327 desmosomal P/LP varian

37 Thirty-one changes were observed in 37 probands (4.5%; 95% CI, 3.2%-6.1%) and included 7 loss-o

38 PKP2 cohorts included similar proportions of probands (41% versus 42%) and patients with truncating m

39 g variants were identified in 498 of the 878 probands (56%), encompassing 152 distinct monogenic diso

40 initive molecular diagnosis was made in 8/12 probands (67%) and a possible molecular diagnosis was id

41 AIDA frequency was higher in probands (8%, P=0.006), in ARs (21.6%, P=0.00001), and i

42 issense variant was identified in the second proband, a second-degree relative with aortic dilation,

43 tudy was to examine choroid plexus volume in probands across the psychosis spectrum and in their firs

44 ormed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment

45 Cardiac arrest was observed in 5 probands (age 15.3 +/- 1.9 years) and ventricular tachyc

46 Primary fibroblasts from both probands also exhibited markedly enlarged intracellular

47 ic yield of reflexing to trio after negative proband analysis was 0.7% (1 of 147).

48 [NM_182680.1:c.143T>C, p.(Leu48Ser)] in the proband and a novel homozygous MMP20 mutation [NM_004771

49 rformed in two nuclear families, including a proband and a parent affected by AgP and an unaffected p

50 AHA- and/or AIDA-positive status in the proband and at least one of the respective relatives was

51 Median time between disclosure to the proband and counseling of relatives was 6 months (range:

52 nts in 3 index families comprised of an HLHS proband and relative(s) with cardiomyopathy.

53 5 patients) were identified in more than one proband and, therefore, considered nonunique.

54 sity mapping and whole-exome sequencing in 5 probands and 2 unaffected family members from 4 unrelate

55 elevations in a group of 7 markers in 36% of Probands and 20% of HCs.

56 cted whole-exome sequencing (WES) on 668 CM1 probands and 232 family members and performed gene-burde

57 re, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a c

58 METHODS AND Clinical data of 23 probands and 35 family members carrying this variant wer

59 We performed whole-exome sequencing in 67 probands and 93 relatives from a large cohort of familia

60 ranscriptome and protein analyses in arhinia probands and controls showed no differences in SMCHD1 mR

61 8 possible ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations (DNM

62 We collected probands and families (n = 56) with high hyperopia or na

63 Exome sequencing was performed on 412 probands and family members from our DCM cohort, identif

64 The phenotype in probands and family members was characterized by atriove

65 abnormalities that are intermediate between probands and healthy controls.

66 In probands and in ARs, these antibodies were associated wi

67 re eligible for analysis dividing into n=384 probands and n=135 relatives.

68 S in a large cohort of 531 unrelated Spanish probands and one Australian family with autosomal domina

69 Twenty additional c.1000G>C probands and one c.1000G>A proband were identified, and

70 t met inclusion criteria; the mean number of probands and relatives per study was 242 and 826, respec

71 robands and schizophrenia diagnoses for both probands and relatives were obtained.

72 eating disorder not otherwise specified) for probands and schizophrenia diagnoses for both probands a

73 D, we compared genome sequences from 749 CHD probands and their parents with those from 1,611 unaffec

74 d whole-exome sequencing of a hundred trios (probands and their parents) with detailed records of the

75 Comparing probands and unaffected siblings, we observe several DNM

76 The study returns results to probands and, when indicated, to relatives.

77 identified disease-causing mutations in each proband, and these mutations cosegregated with the AI ph

78 achycardia in 10 (age 16.6 +/- 2.7 years), 6 probands, and 4 family members.

79 nes with variants shared among more than two probands, and burden tests of rare variants using a case

80 obands; collectively, the cohorts span 3,429 probands, and the observed rate of de novo variation in

81 AHA frequency was higher (36.8%) in probands, ARs (37.8%), and healthy relatives (25%) than

82 cutive genotyped hypertrophic cardiomyopathy probands at 5 tertiary hypertrophic cardiomyopathy cente

83 These traits are also expressed in probands at high genetic risk of BD.

84 th increased platelet aggregate size both in probands' blood and with the recombinant variants.

85 f new cases of high Lp(a) in relatives of FH probands both with and without high Lp(a), and prospecti

86 were identified as the cause of DEE in eight probands, but the functional consequences of the mutatio

87 ched for potential "multiple-hit" cases; one proband carried a rare AUTS2 variant in combination with

88 Two probands carried bi-allelic LRP5 variants, both presenti

89 Probands carry more gene-disruptive CNVs and SNVs, resul

90 We identified 110 (49%) probands carrying 55 different pathogenic point mutation

91 Probands carrying LoF or deletion DNVs in LoF-intolerant

92 In contrast to control cells, the probands' cells showed mitochondrial swelling, which was

93 ntaining 2 DN damaging variants in unrelated probands: CHD8 and SCUBE1.

94 The proband cohort consisted of individuals born in Sweden (

95 us patterns are observed for two independent proband cohorts and several other important ASD-associat

96 ere from cohorts with at least 400 sequenced probands; collectively, the cohorts span 3,429 probands,

97 d CRP were significantly higher in psychosis probands compared to HCs, and there were marker-specific

98 ed enrichment for rare variants in BAV/AscAA probands compared with controls.

99 id plexus volume was significantly larger in probands compared with first-degree relatives or healthy

100 Proband-derived fibroblasts had enlarged endosomal struc

101 We use mammalian cell lines and proband-derived fibroblasts to further confirm the patho

102 Using proband-derived induced pluripotent stem cells (iPSCs),

103 aMKIIalpha catalytic domain, identified in a proband diagnosed with ASD, decreases both CaMKIIalpha s

104 n-frame deletion was identified in the third proband diagnosed with catecholaminergic polymorphic ven

105 rall diagnostic odds-ratio, 4.17 versus 7.8; probands diagnostic odds-ratio, 4.04 versus 18.1; and pr

106 (lived outside of the United States, n = 5; proband did not approve of contact, n = 7).

107 Fibroblasts from probands displayed a lysosomal pH approximately 0.2 unit

108 ll Diagnostic odds-ratio (DOR) 4.17 vs. 7.8, probands DOR 4.04 vs. 18.1; probands {less than or equal

109 pective twin and family cohort, including 98 probands encompassing the entire spectrum of NAFLD and 1

110 The probands exhibited shared phenotypes of epilepsy, colobo

111 halopathy patients with KCNA2 mutations, the proband exhibits mild neurological impairment, more char

112 Among 2,772 SCZ probands, exome-wide DNM burden remained modest.

113 investigated a Bangladeshi family where the proband experienced 29 consecutive pregnancy losses with

114 ecurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3' re

115 the mitochondrial membrane potential of the probands' fibroblasts was intact, whereas ATP content in

116 HODS AND A total of 160 AC genotype-negative probands for 5 AC desmosomal genes by conventional mutat

117 In all six probands for whom parents were available, the mutations

118 The probands from families C, D, F, and G underwent Sanger s

119 autosomal-recessive Parkinson's disease, 242 probands from families with autosomal-dominant Parkinson

120 a mainland Chinese population, including 192 probands from families with autosomal-recessive Parkinso

121 In this study probands from Lineagen (UT, U.S.A.) of both sexes were s

122 reduce ascertainment bias, we distinguished probands from nonprobands.

123 Of 725 probands from the CIDRNZ with CID, the proportion presen

124 analyse trio exome sequence data from 4,293 probands from the DDD Study with severe developmental di

125 When applied to a cohort of disease-affected probands from the Mayo Clinic Center for Individualized

126 st-degree relatives of type 1 diabetes (T1D) probands from the TrialNet Pathway to Prevention Study.

127 o-affected siblings (n = 90) of the earliest probands from those (n = 91) of the latest probands.

128 85 sporadic, 125 with family history, and 52 probands from well-characterized ET pedigrees) and 200 c

129 After a pilot using 81 probands, further adjustments were made, resulting in 27

130 ce of gray matter thickening compared to the proband group with low inflammatory marker levels.

131 ociated X-linked ocular albinism and another proband had biallelic variants in SLC38A8, a glutamine t

132 Two probands had a retinal fold in one eye and chorioretinal

133 Of the remaining cohort, two probands had no variants and six probands had only a sin

134 Sixteen probands had normal resting QTc values and only develope

135 cohort, two probands had no variants and six probands had only a single variant, including four with

136 Four probands had rare damaging mutations (2 de novo) in TFAP

137 Three probands had rare damaging mutations in GLI2, SOX11, or

138 oral and parietal regions; psychotic bipolar probands had small reductions, primarily in frontal regi

139 Probands had structural brain abnormalities, severe neur

140 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a const

141 role in disease for noncoding mutations-ASD probands harbor both transcriptional- and post-transcrip

142 Other VOGM probands harbored rare inherited damaging mutations in E

143 ghtened risk of ASCVD, particularly when the proband has both FH and elevated Lp(a).

144 Approximately 40% of HCM probands have a nonfamilial subtype, with later onset an

145 All probands have a speech delay, and most present with inte

146 the predicted effects of the variants, both probands have an almost complete loss of PTPRJ at the me

147 Our preliminary data show that 15/97 (15.5%) probands have likely pathogenic/P variants, most of whic

148 ging MYH6 variants were identified in 10% of probands in our cohort-4 with familial congenital heart

149 ia provide accurate detection of symptomatic probands in specialized practice but have limited specif

150 ia provide accurate detection of symptomatic probands in specialized practice, but have limited Sp.

151 Probands in the elevated inflammatory marker group perfo

152 tely 0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB

153 hieved nearly complete resolution in the two probands in whom it has been applied, consistent with th

154 Probands included 27 patients with familial UM, 1 patien

155 ts (age 15.1 +/- 3.8 years), of whom 22 were probands, including 16 RV, 7 LD, and 9 biventricular ACM

156 e sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implic

157 Exome sequencing of 55 VOGM probands, including 52 parent-offspring trios, revealed

158 itative Melt Analysis (MS-QMA) on 3,340 male probands increased diagnostic yield from 1.60% to 1.84%

159 for rare variants and altered expression in proband iPSCs prioritized 10 candidates.

160 These findings hold independent of proband IQ.

161 The proband is a 37-year-old female with a history of neonat

162 al increased in subcohorts of families where probands lacked nonsynonymous germline mutations, especi

163 R) 4.17 vs. 7.8, probands DOR 4.04 vs. 18.1; probands {less than or equal to}25 years DOR 2.36 vs. 5.

164 Probands {less than or equal to}25 years had the worst d

165 diagnostic odds-ratio, 4.04 versus 18.1; and probands <=25 years diagnostic odds-ratio, 2.36 versus 5

166 Probands <=25 years had the worst diagnostic performance

167 and lower steady-state levels of lamin B1 in proband lymphoblasts.

168 Probands' muscle biopsies were dystrophic, and serum cre

169 The QTc-PRS in LQTS probands (n=137; 89.3+/-6.8) was significantly greater t

170 ents were detected in approximately 7% of AC probands negative for pathogenic point mutations in desm

171 Whole exome sequencing of DNA from probands of 24 rHS or HPP kindreds identified numerous m

172 MS-QMA analysis can cost-effectively screen probands of both sexes for methylation and FM mosaicism

173 P variants, most of which were identified in probands of Non-Hispanic European ancestry.

174 ied recessive null mutations in 8 additional probands, of which, 3 had NDM (<6 months).

175 dysfunction or behavioral problems in adult probands or carrier parents.

176 Twenty unrelated probands or families from Greece have been analyzed, of

177 three monozygotic (MZ) and 20 dizygotic (DZ) proband pairs con- or discordant for schizophrenia spect

178 ole genome sequencing in multiplex families, proband-parent trios, and case-control cohorts revealed

179 onal burden analyses in this large cohort of proband-parent trios, we could estimate in an unbiased m

180 ome or whole-genome sequencing studies (4167 probands plus 1786 controls) with our Chinese population

181 that prioritized de novo mutations in autism probands point to a small set of well-known ASD genes, t

182 carrying prioritized mutations identified in probands possess allele-specific regulatory activity, an

183 Following identification of deceased ACM probands possessing ANK2 rare variants and evidence of a

184 One proband presented with an opposing phenotype of microcep

185 The proband presented with bilateral cleft lip and palate, m

186 ve rare de novo missense variants in DDX6 in probands presenting with intellectual disability, develo

187 Data were collated from CIDRNZ probands presenting with RSCA (2002 to 2018).

188 In the first family, the proband presents with hepatic fibrosis, retinitis pigmen

189 maging missense variants are enriched in OCD probands (rate ratio, 1.52; p = .0005) and contribute to

190 he nature of phenotypic heterogeneity across probands remains unclear.

191 failure to identify mutation carriers among probands represents a lost opportunity to prevent cancer

192 r, the two CAPZA2 variants identified in the probands rescue this lethality at lower efficiency than

193 tified 0, 1, and >/=2 VOIs in 72, 74, and 28 probands, respectively.

194 astic heart defects, compared to patents the proband's iPSC-CMs exhibited reduced proliferation.

195 We also detected the mutant peptide in the proband's renal amyloid deposits.

196 We also detected the mutant peptide in the proband's renal and GI amyloid deposits.

197 The proband's symptoms are more characteristic of patients w

198 Clinically stable psychosis probands (Schizophrenia spectrum, n = 79; Psychotic Bipo

199 gnostic accuracy was highest for symptomatic probands (Se 92%; NPV 95%) with limited Sp (60%).

200 gnostic accuracy was highest for symptomatic probands (sensitivity 92%; negative predictive value 95%

201 Two probands shared one variant and the others have variants

202 Compared with healthy controls, psychotic probands showed decreased nodal efficiency mainly in bil

203 mation, and micronuclei in daughter cells of proband skin fibroblasts.

204 ic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of dis

205 Nine variants (in eight probands) survived our filtering/prioritization strategy

206 sequently screened 73 genotype-negative ARVC probands tested previously for mutations in known ARVC g

207 ally expressed genes were more common in ASD probands than controls (P < 1 x 10(-6)), and genes carry

208 We report two consanguineous families with probands that exhibit intellectual disability, developme

209 In a derivation cohort of probands, the model has a robust diagnostic accuracy (AU

210 s quantified (using FreeSurfer) in psychosis probands, their first-degree and axis II cluster A relat

211 Whole brain GMD measures were examined in probands, their relatives, and healthy subjects organize

212 a gene and to also establish the numbers of probands to screen to detect multiple observations of va

213 We used mother-father-proband (trio) information from multiple technical repli

214 (AMH) and its receptor, AMHR2, in 3% of CHH probands using whole-exome sequencing.

215 Schizophrenia and schizoaffective probands versus healthy controls showed overlapping GMD

216 in co-localized regions if they occur in ASD probands versus in their unaffected siblings.

217 , mucocutaneous ulceration in a family whose proband was dependent on anti-TNF therapy for sustained

218 volume and higher levels of interleukin 6 in probands was also observed.

219 ote/compound heterozygote genotype status in probands was associated with a 3.2-fold (95% CI, 1.3-8.0

220 Of eighteen probands we can confidently diagnose three with OA and O

221 In other probands, we identified novel loss-of-function variants

222 itional c.1000G>C probands and one c.1000G>A proband were identified, and available tumors showed bia

223 All probands were affected by moderate-severe forms of the d

224 The parents of all probands were asymptomatic with normal QTc duration.

225 y-number variants, and karyotype variants in probands were considered to be pathogenic when they were

226 Thirty probands were enrolled, and 114 ARRs were identified.

227 were found in either APOB or PCSK9, but nine probands were homozygous for seven different LDLR mutati

228 Of the 2335 patients, 143 probands were investigated (mean [SD] age, 24.6 [10.8] y

229 tives of patients with SCZ and their related probands were investigated to assess frontal cortical in

230 Probands were linked to their biological parents, siblin

231 However, spouses of EoE probands were observed to be at increased risk of EoE (O

232 ents (median age at diagnosis 34.5 years, 91 probands) were included in this study.

233 ening of 5 desmosomal genes was performed in probands; when a sequence variant was identified, cascad

234 mutation and its effects are limited to the proband, whereas mosaicism also affecting the gametes, s

235 ility MendelProb can determine the number of probands which need to be screened to detect a minimum n

236 nonsense variant was identified in the first proband who underwent cardiac transplantation for diasto

237 Here, we report two pediatric probands who carry damaging heterozygous de novo mutatio

238 hythmogenic right ventricular cardiomyopathy probands who met 2010 Task Force Criteria and had underg

239 Studies of infant siblings of older autistic probands, who are at elevated risk for autism, have demo

240 gate asymptomatically in sisters of affected probands, who would incur elevated rates of ASD among th

241 f unrelated PCD subjects identified a second proband with a compound heterozygous variant carrying th

242 Subsequent therapy of the lead proband with a MEK inhibitor led to dramatic clinical im

243 complete absence of TBX4 transcripts in this proband with biallelic p.Tyr113(*) stop-gain mutations r

244 s, including an early nonsense mutation in a proband with femorogluteal lipodystrophy and non classic

245 irmed in a validation cohort of relatives of proband with NAFLD-cirrhosis (AUROC of 0.87).

246 , and an essential splice site mutation in a proband with partial lipodystrophy and a history of chil

247 Seven of 10 probands with a compound heterozygous TGM1 genotype had

248 Relatives of probands with a confirmed pathogenic genetic variant are

249 In 2 previous cohort studies of 115 probands with a pathogenic variant, family uptake of gen

250 d Lytrivi et al. sequenced the genome of two probands with a rare neonatal diabetes subtype that also

251 r, we identified nine DD- and/or ID-affected probands with a rare, heterozygous variant in the gene e

252 All relatives of probands with AN or OED (except parents and uncles/aunts

253 Probands with AN or OED were more likely to have schizop

254 N or OED (except parents and uncles/aunts of probands with AN) were at increased risk of schizophreni

255 dividuals with de novo mutations by matching probands with and without these genetic events on sex, I

256 nalysis of 699 unrelated Parkinson's disease probands with autosomal-dominant Parkinson's disease and

257 overlap between genes with damaging DNMs in probands with CHD and autism was also found.

258 biallelic CPAMD8 variants in 5.7% (5/88) of probands with childhood glaucoma and 2.1% (2/96) of prob

259 Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a

260 We used exome sequencing data from 7833 probands with developmental disorders (DDs) and their un

261 Probands with DNMs or rare inherited mutations in the 67

262 vealed another two variants in UQCRC1 in the probands with familial Parkinson's disease, c.931A>C (p.

263 possibly pathogenic variants (3.64%) and 59 probands with GBA p.L444P (3.52%).

264 We also detected 61 probands with GBA possibly pathogenic variants (3.64%) a

265 Furthermore, the age at onset of the 132 probands with genetic diagnoses (median, 31.5 years) was

266 HODS AND Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center betwe

267 8+/-6 years, cardiovascular mortality in FG+ probands with HCM was similar to G+ HCM (22% versus 14%;

268 The clinical phenotype of FG+ and G+ probands with HCM was similar.

269 FG+ carriers included 134 FG+ probands with HCM, 54 FG+ relatives diagnosed with HCM a

270 systolic and diastolic dysfunction than FG+ probands with HCM.

271 offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in

272 Whole genome sequencing was performed in 197 probands with HLHS, 43 family members, and 813 controls.

273 s with childhood glaucoma and 2.1% (2/96) of probands with juvenile open-angle glaucoma.

274 4T>C mutation was 2.7% in the cohort of 1741 probands with LHON.

275 in 68 of 90 probands with LVNC and 34 of 84 probands with LVHT (76% and 40%, respectively; P<0.001).

276 VOIs were found in 68 of 90 probands with LVNC and 34 of 84 probands with LVHT (76%

277 osis and their 72 first-degree relatives, 24 probands with NAFLD without advanced fibrosis and their

278 ional analysis of a prospective cohort of 26 probands with NAFLD-cirrhosis and 39 first-degree relati

279 ive cohort of 306 participants, including 44 probands with NAFLD-cirrhosis and their 72 first-degree

280 demonstrated that first-degree relatives of probands with NAFLD-cirrhosis have a 12 times higher ris

281 vanced fibrosis in first-degree relatives of probands with NAFLD-cirrhosis.

282 Probands with newly diagnosed cancer-associated pathogen

283 For male probands with no FM detected by standard testing (n = 18

284 The cohorts included: (i) 279 probands with no FXS full mutation (FM: CGG > 200) detec

285 There were 251 (61%) probands with no reported family history of HCM, includi

286 history of HCM, including 166 (40% of total) probands with no sarcomere mutation, that is, nonfamilia

287 For females, 11% of 43 probands with NS alleles by the AmplideX sizing assay ha

288 by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of func

289 Five of the 23 probands with positive results (21.7%) had more than 1 C

290 ermediate Phenotypes consortium included 326 probands with psychotic disorders (107 with schizophreni

291 ral superior temporal regions than controls, probands with SAD only exhibited lower nodal efficiency

292 CaM pathogenic variant (CALM3-D130G) among 4 probands with shared clinical features of prolonged QTc

293 D and subsequently sequenced a cohort of 134 probands with TD to identify genetic factors predisposin

294 ts of 128 present-day dilated cardiomyopathy probands with TTNtv using the reverse parent-offspring m

295 Two-hundred five unrelated probands with various forms of cardiomyopathy were evalu

296 mpairment (8/9), ataxia (6/9), dysarthria in probands with verbal ability (6/9), hypotonia (7/9), hyp

297 pervised naive Bayes classification of 6,993 probands with WES data and sufficient phenotypic informa

298 ndred thirty-seven individuals (61% men; 317 probands) with TTNtv were recruited in 14 centers (372 [

299 The early clinical diagnosis of probands without family history is not addressed by both

300 were more likely to have schizophrenia than probands without these disorders.