ライフサイエンスコーパス: bi-allelic

1 the majority of the SNPs (84%) detected was bi-allelic, a substantial number was tri-allelic with li

2 Eleven HI patients had bi-allelic ABCA12 mutations, whereas in the remaining th

3 by the SmoA1 transgene was unchanged by the bi-allelic absence of Notch1, Notch2, or Hes5 genes.

4 hat developing thymocytes exhibit uniformed, bi-allelic activation of the Vbeta gene before V-DJ reco

5 er, in ovarian, breast and prostate cancers, bi-allelic alterations are mutually exclusive of each ot

6 er members of the HR pathway and if mono- or bi-allelic alterations of HR-related genes have a phenot

7 These bi-allelic alterations often associate with genomic feat

8 two markers 9.5 kb apart at the CD4 locus: a bi-allelic Alu deletion and a multi-allelic repeat.

9 In summary, we showed that individuals with bi-allelic amorphic (i.e., null and/or hypomorphic) vari

10 Expression of the gene was bi-allelic and coequal in both control and affected indi

11 er of genome-editing applications, including bi-allelic and mono-allelic editing, and the generation

12 nts discovered in our study were exclusively bi-allelic and mostly in a homozygous state (in 15 famil

13 seven (53.8%) FGPs, including two cases with bi-allelic APC inactivation (truncating intragenic mutat

14 In this study, we uncover bi-allelic assortments of 23 different (22 loss-of-funct

15 Here we demonstrate that bi-allelic Atm deletion in mouse models of Kras-mutant l

16 TELO2- and TTI2-related bi-allelic autosomal-recessive (AR) encephalopathies hav

17 The RECAP test identified all bi-allelic BRCA deficient samples (n = 15) in this cohor

18 otypic spectrum observed in individuals with bi-allelic BRCA1, BRCA2, or PALB2 pathogenic variants an

19 Here, we report two bi-allelic (c.737C>A [p.Pro246His] and c.1105A>G [p.Met3

20 s from five unrelated families, we show that bi-allelic CAMSAP1 loss-of-function variants cause a cli

21 cing across independent families to identify bi-allelic candidate genetic variants in the Programmed

22 orted ARS-related diseases, individuals with bi-allelic CARS variants are unique in presenting with a

23 Each affected person carries bi-allelic CARS variants: one individual is compound het

24 e frequency of CCR5 editing exceeded 90% and bi-allelic CCR5 editing exceeded 70% resulting in signif

25 tumor formation was complete irrespective of bi-allelic Cic function and the distance between adjacen

26 Using this method, we show robust bi-allelic correction of homozygous sickle cell mutation

27 he goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1

28 s retrieved from PubMed, 96 studies with 439 bi-allelic CRB1 patients were included.

29 dentified genotype-phenotype associations in bi-allelic CRB1 patients.

30 caused by CSF1R deficiency and implied that bi-allelic CSF1R mutations cause a spectrum of neurologi

31 iduals from three unrelated families who had bi-allelic CSF1R mutations.

32 ) provides an appropriate data structure for bi-allelic data.

33 ereditary spastic paraplegia (HSP) who carry bi-allelic deleterious variants in ABHD16A.

34 and skeletal anomalies, all harboring rare, bi-allelic deleterious variants in SNAPIN, which encodes

35 We detected bi-allelic deleterious variants in TULP3, encoding a cri

36 t ten individuals, from eight families, with bi-allelic, deleterious SNAPC4 variants.

37 the pre-B ALL cell line BLIN-1, which has a bi-allelic deletion of p16(INK4a) p19(ARF) but does not

38 , a dic(9;20) chromosomal abnormality, and a bi-allelic deletion of the p16(INK4a) and p19(ARF) genes

39 In contrast, one MEF line that sustained bi-allelic deletions of INK4a initially remained diploid

40 Bi-allelic deletions of the tumor suppressor p16(Ink4a)

41 monstrates the varying effects of single- or bi-allelic disruption of PTEN on cortical phenotypes.

42 ssive and non-syndromic RP, carrying as well bi-allelic DNA changes in COQ8B, a gene involved in the

43 tion ExE, while being completely silenced by bi-allelic DNA methylation in the epiblast.

44 Bi-allelic DNA2 mutations that reduce DNA2 concentration

45 iency of DOHH activity in cells carrying the bi-allelic DOHH variants.

46 This study demonstrated the successful bi-allelic editing (-/-) of BLG in buffalo cells through

47 get the tyrosinase (Tyr) gene, achieving 88% bi-allelic editing and 42% homology-directed repair-medi

48 This results in an increase in bi-allelic editing, yet reduction of allele variance, in

49 d homology-directed repair while maintaining bi-allelic editing.

50 r genome sequencing identified six different bi-allelic EEFSEC variants in nine individuals from eigh

51 Here, we report bi-allelic EMILIN1 loss-of-function variants causative f

52 cover a phenotypic dichotomy associated with bi-allelic ERI1 variants by reporting eight affected ind

53 enotypic traits observed in individuals with bi-allelic ESAM variants overlap very closely with other

54 Affected individuals with bi-allelic ESAM variants showed profound global developm

55 Bi-allelic expression increases gradually after modest d

56 n, while the remaining third promoter drives bi-allelic expression of Peg3 with a paternal bias only

57 XIST occurs in fused cells and precedes the bi-allelic expression of selected Xi-genes by many heter

58 al transmission of the KO allele resulted in bi-allelic expression of the normally maternally express

59 In summary, bi-allelic expression of the RyR1 p.A4329D mutation phen

60 Bi-allelic expression of truncated and/or non-DNA-bindin

61 In contrast, Mez1 displays a bi-allelic expression pattern in the embryonic tissue, a

62 rt of individuals with ID, we identified two bi-allelic frameshift variants in METTL5, c.344_345delGA

63 iduals from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental

64 TEN deletion combined with survivin mono- or bi-allelic gene deletion.

65 Bi-allelic gene edited clones were validated by sequenci

66 Bi-allelic germline deficiency of IL2RA causes a rare au

67 Patients with bi-allelic germline mutations in mismatch repair (MMR) g

68 One of 75 cancers had bi-allelic germline mutations in MYH and on retrospectiv

69 Bi-allelic germline MYH mutations cause approximately 1

70 ellectual disability and epilepsy, revealing bi-allelic GOT2 mutations.

71 In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an ident

72 Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with micr

73 Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phe

74 of constructing near-perfect phylogenies on bi-allelic haplotypes, where the deviation from perfect

75 sequencing, revealed that 7 clones exhibited bi-allelic (-/-) heterozygous, bi-allelic (-/-) homozygo

76 nes exhibited bi-allelic (-/-) heterozygous, bi-allelic (-/-) homozygous, and mono-allelic (-/+) disr

77 e sequencing studies in 13 families revealed bi-allelic HPDL variants in each of the 17 individuals a

78 king and ciliary entry of membrane proteins; bi-allelic IFT140 variants cause the syndromic ciliopath

79 Bi-allelic Igf2r expression suppressed intestinal adenom

80 ) is a rare fatal cystic lung disease due to bi-allelic inactivating mutations in tuberous sclerosis

81 one male aged between 2 and 7.5 years) with bi-allelic inactivating mutations of PGM2L1 were identif

82 Bi-allelic inactivating mutations were found in the FXR1

83 Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotro

84 re, the authors show that mutually exclusive bi-allelic inactivation of HR genes are present in other

85 gn, likely congenital tumor that arises from bi-allelic inactivation of NF1.

86 Bi-allelic inactivation of NF2 is known to cause multipl

87 nducing colonic polyposis after Cre-mediated bi-allelic inactivation of the Apc gene.

88 In nearly all the tumours analysed we found bi-allelic inactivation of TP53 and RB1, sometimes by co

89 ing a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have low

90 ssion patterns of genes with monoallelic and bi-allelic inheritance patterns in the developing human

91 t frequencies at the Lef1 gene revealed that bi-allelic insertion of a PGK-Neo cassette occurred more

92 We report highly efficient and bi-allelic integration frequencies across multiple loci

93 eration of a homogenous cell population with bi-allelic integration of a DNA cassette at the selectio

94 We identified bi-allelic KICS2 variants in eleven affected individuals

95 We used CRISPR-mediated deletion to create bi-allelic knockouts of ZFX and/or ZNF711 in female HEK2

96 Our results demonstrate that bi-allelic LETM1 variants are associated with defective

97 Our data demonstrate bi-allelic LoF variants in LGI3 cause a clinically disti

98 These combined data suggest that bi-allelic loss of ENG or ACVRL1 may be a required event

99 Together, these data argue that bi-allelic loss of function in an HHT gene is a required

100 Patients with bi-allelic loss of function mutations in the voltage-gat

101 Bi-allelic loss of function of the KAR-encoding gene GRI

102 Bi-allelic loss of function variants in TMC6, TMC8, and

103 Acquired bi-allelic loss of PTEN was found in one of these patien

104 noma (RMC) is an aggressive tumour driven by bi-allelic loss of SMARCB1 and tightly associated with s

105 We identified bi-allelic loss-of-function (LoF) variants in Oxidative

106 We report bi-allelic loss-of-function CACNA1B variants in six chil

107 rray CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating

108 rt 1, familial chylomicronemia syndrome with bi-allelic loss-of-function lipoprotein lipase (LPL) pat

109 Bi-allelic loss-of-function mutations in genes required

110 167 MMAF-affected individuals, we identified bi-allelic loss-of-function mutations in more than 30% o

111 Taken together, our results implicate bi-allelic loss-of-function NUP188 variants in a recessi

112 nalyses establishes compelling evidence that bi-allelic loss-of-function RFC4 variants contribute to

113 Bi-allelic loss-of-function variants in CACNA1B are pred

114 tal of 2,699 men with SPGF and detected rare bi-allelic loss-of-function variants in FKBP6 in five ad

115 ental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as present

116 Bi-allelic loss-of-function variants in genes that encod

117 Here, we report that bi-allelic loss-of-function variants in IPO8 cause a syn

118 Here, we report 12 individuals with bi-allelic loss-of-function variants in IPO8 who present

119 In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cau

120 we report 26 families (35 individuals) with bi-allelic loss-of-function variants in PRMT9, implicati

121 Genomic analysis revealed bi-allelic loss-of-function variants in SMPD4, coding fo

122 We identified 10 bi-allelic loss-of-function variants in the gene encodin

123 Nearly 3% of the human population carries bi-allelic loss-of-function variants in the gene encodin

124 quencing, we identified the first human with bi-allelic loss-of-function variants in the gene IREB2 l

125 ibe a severe neurological disorder caused by bi-allelic loss-of-function variants in thioredoxin (TRX

126 nical, genetic, and functional evidence that bi-allelic loss-of-function variants in TMEM147 cause sy

127 dromic neurodevelopmental disorder caused by bi-allelic loss-of-function variants in ZSCAN10.

128 Here, we report bi-allelic loss-of-function variations in SMO in seven i

129 Here, we report a human patient with bi-allelic, loss-of-function mutations in PIK3CG resulti

130 Two probands carried bi-allelic LRP5 variants, both presenting with bilateral

131 ohort of 45 individuals with heterozygous or bi-allelic MACF1 variants to explore the phenotypic spec

132 e ancestry-specific allele frequencies for a bi-allelic marker given genotypes and local ancestries o

133 and their DNA analyzed for 104 Y-chromosome bi-allelic markers and 17 associated STR loci.

134 ey entail no loss of informativeness because bi-allelic markers are fully informative in analysing cr

135 tion of 25 individuals from 18 families with bi-allelic MED16 variants who have a multiple congenital

136 ght can distinguish between mono-allelic and bi-allelic methylation of the MLH1 mismatch repair gene

137 ibit phenotypic consequences associated with bi-allelic Mez1 expression.

138 are often but not invariably associated with bi-allelic miR15a/miR16 loss.

139 m 11 unrelated families harboring ultra-rare bi-allelic missense and loss-of-function LETM1 variants

140 An emphasis was given to the bi-allelic missense and nonsense mutations because of th

141 A novel bi-allelic missense in the exon 9 of CRB1; c.2936G > A;

142 We discovered bi-allelic missense mutations in ADAMTS3.

143 Mono-allelic and bi-allelic missense variants localize to conserved resid

144 thesis during embryogenesis, and NADSYN1 has bi-allelic missense variants that cause NAD deficiency-d

145 p to 2-fold (monoallelic models) and 6-fold (bi-allelic models) more enriched for high-confidence NDD

146 Genome sequencing identified bi-allelic MRPL49 variants in individuals from nine unre

147 sistent with a form of COXPD associated with bi-allelic MRPL49 variants, expanding the understanding

148 rofiling of the BAF complex in wild-type and bi-allelic mutant ACTL6B neural progenitor cells and neu

149 As expected, the bi-allelic mutant T(0) plant and the T(1) progeny homozy

150 Bi-allelic mutant TP53 status was observed in 174 (76%)

151 Ten individuals harbored bi-allelic mutations and presented with global developme

152 d by defects in peroxisome biogenesis due to bi-allelic mutations in any of 13 different PEX genes.

153 Each have bi-allelic mutations in AP1B1, the gene encoding the bet

154 is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small sigma

155 come from eight unrelated families and have bi-allelic mutations in APC2, encoding adenomatous polyp

156 Bi-allelic mutations in ARSs typically cause severe, ear

157 y, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NAR

158 Bi-allelic mutations in BRCA2 are associated with a rare

159 ls with TTD; all of these individuals harbor bi-allelic mutations in components of the basal transcri

160 ohesinopathies and Fanconi anemia, caused by bi-allelic mutations in DDX11.

161 Additionally, bi-allelic mutations in GBA1 cause Gaucher disease (GD),

162 Bi-allelic mutations in GBA1, the gene that encodes beta

163 Here, we report bi-allelic mutations in GPAA1 in ten individuals from fi

164 While 19%-41% of affected individuals harbor bi-allelic mutations in IL36RN, the genetic cause is not

165 al magnetic resonance imaging, we identified bi-allelic mutations in INPP5K, encoding inositol polyph

166 sks of cancer (5 had mutations in APC, 3 had bi-allelic mutations in MUTYH, and 1 had a mutation in S

167 We conclude that de novo and bi-allelic mutations in NARS1 are a significant cause of

168 We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosph

169 Altogether our data identified bi-allelic mutations in PRDM13 as causing a olivopontoce

170 r development associated with four different bi-allelic mutations in PRDM13, including homozygous tru

171 und in some retinoblastoma patients, exhibit bi-allelic mutations in RB1, the retinoblastoma gene, an

172 e 2 RTS, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by incr

173 Here we report bi-allelic mutations in SAMD7 as a cause of autosomal-re

174 Using exome sequencing, we identified bi-allelic mutations in TANGO2 encoding transport and Go

175 eveloping breast, ovarian and other cancers; bi-allelic mutations in these genes clinically manifest

176 knock-out human background demonstrated that bi-allelic mutations mimic engineered deletion deficits

177 ns of the tumour suppressor genes, including bi-allelic mutations of both Pten and p53 in tumours.

178 ng cause of early infant death, is caused by bi-allelic mutations of SMN1.

179 tate cancer commonly presents with targeted, bi-allelic mutations of the PTEN and TP53 tumor suppress

180 malities of the flagellum (MMAF), pathogenic bi-allelic mutations were identified in the CCDC146 gene

181 ocyst rate, increased the number of targeted bi-allelic mutations, and resulted in similar degree of

182 apitulated in two individuals with different bi-allelic mutations, and reversed on clonal genetic rep

183 e activity was deficient in fibroblasts with bi-allelic mutations.

184 to generate offspring with mono-allelic and bi-allelic mutations.

185 tations was detected, excepting a child with bi-allelic MUTYH mutations who was excluded from the mai

186 the CRISPR/Cas9 system to generate mono- and bi-allelic null mutations in the Tyr locus by zygote inj

187 the identification of additional cases with bi-allelic null OBSCN variants will further delineate OB

188 Given genetic data indicating that bi-allelic null U8 alleles are likely incompatible with

189 with missense variants but not in those with bi-allelic null variants, who showed mild intellectual d

190 -derived DNA of seven patients we identified bi-allelic (one germline, one somatic) variants within o

191 hat cause sporadic hypothalamic hamartoma to bi-allelic (one germline/one somatic) variants, implicat

192 h to predict cancer risk in individuals with bi-allelic or heterozygous BRCA1 or BRCA2 variants.

193 -free T1 plants, with 33% of them containing bi-allelic or homozygous mutations in both genes.

194 rphism was observed with homicidal behavior (bi-allelic: OR = 1.29, p = 0.016, tri-allelic: OR = 1.32

195 We now report human bi-allelic P4HA1 mutations in a family with a congenital

196 enome Atlas (TCGA) data set and observe that bi-allelic pathogenic alterations in homologous recombin

197 We report bi-allelic pathogenic HPDL variants as a cause of a prog

198 We identified bi-allelic pathogenic KDELR2 variants as a cause of OI i

199 ng trio exome sequencing, we identified rare bi-allelic pathogenic missense and truncating DOHH varia

200 We report bi-allelic pathogenic mutations in MDH2 in three unrelat

201 The present study provides evidence that bi-allelic pathogenic variants in ACBD6 lead to a distin

202 We report bi-allelic pathogenic variants in HS2ST1 in four individ

203 six individuals, including two fetuses, with bi-allelic pathogenic variants in MAN2C1; the individual

204 ical diagnosis of Leigh syndrome, who harbor bi-allelic pathogenic variants in NDUFAF8.

205 Bi-allelic pathogenic variants in POLR3B are a well-esta

206 Together, these findings support bi-allelic pathogenic variants in SNAPIN as a likely cau

207 Bi-allelic pathogenic variants in ZBTB11 have been assoc

208 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (1

209 on of Mez2 and Mez3 is not imprinted, with a bi-allelic pattern of transcription for both genes in bo

210 in vivo approaches, we provide evidence that bi-allelic PDCD2 variants cause an autosomal recessive r

211 om nine unrelated families with 10 different bi-allelic PIGK variants.

212 The identification of bi-allelic PKD1L1 mutations recapitulates previous findi

213 In the present study, TNF genotypes of 3 bi-allelic polymorphisms were determined in 32 Caucasian

214 Altogether, our findings implicate bi-allelic PRMT9 loss-of-function variants as causal for

215 ndependent families with 11 individuals with bi-allelic protein-truncating variants and one individua

216 Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individ

217 We describe bi-allelic RINT1 alterations as the cause of a multisyst

218 Here, we report bi-allelic RNU4ATAC mutations in five patients presentin

219 We report the discovery of bi-allelic RORC loss-of-function mutations in seven indi

220 hrough whole-exome sequencing, we identified bi-allelic RPS6KC1 variants in 13 individuals from 8 ind

221 In particular, the bi-allelic RyR1 p.A4329D mutation caused a milder phenot

222 This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elong

223 t allows selective introduction of mono- and bi-allelic sequence changes with high efficiency and acc

224 D2 wild-type ccRCCs relative to tumours with bi-allelic SETD2 aberrations and that H3K36me3-negative

225 We find that bi-allelic SETD2 aberrations are not associated with mic

226 ay to co-analyze host and symbionts based on bi-allelic single nucleotide polymorphisms (SNP) markers

227 e association studies using large numbers of bi-allelic single nucleotide polymorphisms (SNPs) have b

228 Genotyping bi-allelic single nucleotide polymorphisms (SNPs) provid

229 ni 2.5M array and the TOPMed panel, >=90% of bi-allelic single-nucleotide variants (SNVs) are well im

230 r a recombining region within which a single bi-allelic site has experienced natural selection.

231 Global variation at the five bi-allelic sites (DYS271, DYS287, and the three point mu

232 Altogether, these data suggest that these bi-allelic SNAPC4 variants result in loss of function an

233 of human populations using relatively dense, bi-allelic SNP data.

234 yses resulted in 32,313 highly confident and bi-allelic SNP markers.

235 s using DArT sequencing data delivered 4,825 bi-allelic SNPs, which supported genetic diversity and p

236 Despite being bi-allelic, SNPs had similar correlations to genome-wide

237 lelic germline Nf1 gene loss is coupled with bi-allelic somatic (glial progenitor cell) Nf1 gene inac

238 Collectively, our results indicate that bi-allelic SPATA5L1 variants lead to a human disease cha

239 They were found to have bi-allelic splicing variants in TUBGCP6.

240 led sites, but we discovered a ~ 31 megabase bi-allelic supergene associated with the size polymorphi

241 , a machine-learning approach for genotyping bi-allelic SVs.

242 to several epigenetic regulators, recovering bi-allelic targeted clones with a high efficiency of 60%

243 , in a single T-lineage cell that had stable bi-allelic TCR beta rearrangements.

244 re gene expression signature, the absence of bi-allelic TCRG deletion, CD13 surface expression, heter

245 Here, we describe five individuals with bi-allelic TIAM1 missense variants who have developmenta

246 ese clinical and experimental data show that bi-allelic TM2D3 variants underlie a severe syndromic ne

247 individuals from 15 unrelated families with bi-allelic TMEM147 loss-of-function variants, including

248 whole-exome sequencing (WES), we identified bi-allelic TONSL mutations in 10 of 13 individuals with

249 r characterization of these individuals with bi-allelic TRAPPC11 variants highlights the functional i

250 me sequencing, we identified three different bi-allelic truncating mutations in TANGO2 in three unrel

251 We present six affected individuals with bi-allelic truncating variants in NUP188 and strikingly

252 'two-hit hypothesis' implicitly assumes that bi-allelic tumour suppressor gene (TSG) mutations cause

253 ned genotype-phenotype correlations, showing bi-allelic UGGT1 loss-of-function variants associated wi

254 Herein, we describe bi-allelic UGGT1 variants in fifteen individuals from te

255 Given M sequences with N bi-allelic variable sites, an O(NM) algorithm to derive

256 ellar ataxia in homozygous mice carrying the bi-allelic variant.

257 to unaffected controls, suggesting that the bi-allelic variants affect SNAPC4 accumulation.

258 M2 is the third tight-junction gene in which bi-allelic variants are associated with brain calcificat

259 l migration and brain development and define bi-allelic variants as a cause of a clinically distinct

260 We demonstrate that the bi-allelic variants identified cause loss of function of

261 Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2,

262 Mono- and bi-allelic variants in ALDH18A1 cause a spectrum of huma

263 We conclude that de novo and bi-allelic variants in AP1G1 are associated with neurode

264 resents genetic and functional evidence that bi-allelic variants in DAP3 result in a multisystem diso

265 we describe five unrelated individuals with bi-allelic variants in death-associated protein 3 (DAP3)

266 Our data suggest that rare bi-allelic variants in DOHH result in reduced enzyme act

267 emely rare de novo mono-allelic or inherited bi-allelic variants in EIF4A2.

268 ses of mitochondrial disease associated with bi-allelic variants in FASTKD5 add to a growing list of

269 Mono- and bi-allelic variants in human ROBO1 have been associated

270 individuals from 10 unrelated families with bi-allelic variants in INTS11 who present with global de

271 enotype to chromosome 21q21.3 and identified bi-allelic variants in JAM2.

272 related families with loss-of-function (LoF) bi-allelic variants in LGI3.

273 MIGs, all of whom were found to harbor rare, bi-allelic variants in minor spliceosome snRNAs.

274 share similar phenotypes with disease-causal bi-allelic variants in NADSYN1, encoding NAD synthetase

275 port six individuals from four families with bi-allelic variants in NRROS.

276 Together, our data establish that the bi-allelic variants in OGDHL are pathogenic, leading to

277 duals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurologica

278 Our findings provide evidence for bi-allelic variants in POPDC2 causing a Mendelian autoso

279 Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase act

280 Our research links bi-allelic variants in RFC4, encoding a core RFC complex

281 rodevelopmental delays from 21 families with bi-allelic variants in SPOUT1/CENP-32 detected by exome/

282 e-exome sequencing (WES), we here discovered bi-allelic variants in the formin DAAM2 in four unrelate

283 Bi-allelic variants in the gene HID1 domain-containing p

284 e, we describe ten affected individuals with bi-allelic variants in the neuronal cell adhesion molecu

285 and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either simila

286 Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-

287 individuals from 31 unrelated families with bi-allelic variants in tRNA methyltransferase 1 (TRMT1).

288 -Blizzard syndrome (JBS), which is caused by bi-allelic variants in UBR1, notably by the presence of

289 roidism, and genital anomalies, we uncovered bi-allelic variants in UBR7.

290 We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onse

291 We conclude that bi-allelic variants in WBP4 cause a developmental disord

292 The identified bi-allelic variants include 10 missense variants that di

293 In these individuals, bi-allelic variants mostly affect the Plakin domain.

294 A clinical review of eight families with bi-allelic variants reveals a possible complex neurodeve

295 The discovery cohort revealed 543 bi-allelic variants within 20 genes of the ADRbeta pathw

296 s predominantly reported in individuals with bi-allelic variants.

297 ons, we found three additional families with bi-allelic variation and similarly affected phenotypes i

298 rrows-Wheeler Transform (mPBWT) based on the bi-allelic version for compression and searching.

299 BWT will be negligible and comparable to the bi-allelic version of PBWT.

300 ecently generated by analyzing the effect of bi-allelic versus mono-allelic expression of the RyR1 p.