ライフサイエンスコーパス: biallelic

1 of which are monoallelic and others that are biallelic.

2 frequency of 0.7% in Europeans, implies that biallelic AAGGG expansion in RFC1 is a frequent cause of

3 vo, we generated mice with prostate-specific biallelic ablation of Spop.

4 We compared association tests based on a biallelic additive model constraining the effect of a si

5 In addition, the comparison of patients with biallelic and heterozygous mutations in PRKN/PINK1 sugge

6 Conclusion: WES identified biallelic and heterozygous PKD1L1 variants of interest i

7 iously unreported RASGRP2 variants that were biallelic and likely pathogenic.

8 Biallelic ARMC5 inactivation in PMAH suggested that ARMC

9 ng a homozygous variant in two siblings, and biallelic ATAD3A deletions mediated by nonallelic homolo

10 s a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations; increased

11 orter activity, whereas demethylation caused biallelic CD177 expression.

12 Biallelic CD19 gene mutations cause common variable immu

13 genomic instability, and near-uniform, often biallelic, CDKN2A loss with rare TP53 mutations.

14 We here show that combined biallelic Cebpa and Gata2 zinc finger-1 (ZnF1) mutations

15 MVA due to biallelic CEP57 mutations, or of unknown cause, is not a

16 analyzed 187 consanguineous ASD families for biallelic CNVs.

17 d depth filter most improved the genome-wide biallelic concordance rate.

18 an efficient, rapid and scalable method for biallelic conditional gene knockouts in diploid or aneup

19 dentified rare (allele frequency < 4x10(-5)) biallelic CPAMD8 variants in 5.7% (5/88) of probands wit

20 We sought to assess the contribution of biallelic CPAMD8 variants to childhood and juvenile open

21 Biallelic CPAMD8 variation was associated with a highly

22 ells with either monoallelic CRM1WT/E571K or biallelic CRM1E571K/E571K using CRISPR/Cas9.

23 By contrast, we did not found any biallelic CUBN variants in proteinuric patients with red

24 Our results show that CXCR3 escapes XCI, biallelic CXCR3-expressing T cells produce more CXCR3 pr

25 than monoallelic CXCR3-expressing cells, and biallelic CXCR3-expressing T cells produce more IFN-gamm

26 Biallelic deficiency precipitated fatal autoimmunity wit

27 f adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1 DADA2 results i

28 icient H1650 lung cancer cells, which have a biallelic deletion of Atg7, and in H460 Atg7-knockout ce

29 eurofibroma growth in mice with conditional, biallelic deletion of Nf1 in the Schwann cell lineage.

30 In contrast, biallelic deletions in individuals with ASD were enriche

31 Using a dual-guide gene targeting approach, biallelic deletions in the CCR5 gene were introduced int

32 Here we characterize large biallelic deletions in the region encoding the ATAD3C, A

33 The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous r

34 Only a small subset of biallelic deletions were predicted to result in coding e

35 metabolic wasting (SAM) syndrome, caused by biallelic desmoglein 1 (DSG1) mutations, exhibit skin le

36 etinal phenotype compared with patients with biallelic DHDDS mutations.

37 Here, we show that biallelic Dicer1 deletion with aP2-Cre drives aggressive

38 ncluded for PKD1 Recent data have shown that biallelic disease including at least one weak ADPKD alle

39 The identification of biallelic disease-causing mutations is also diagnostic,

40 s pigmentosa (ARRP) (n = 47) associated with biallelic disease-causing sequence variants in USH2A.

41 We document biallelic disruption of known or emerging recessive neur

42 are disorders of DNA damage repair caused by biallelic disruption of the WRN or BLM DNA helicases res

43 as a novel fork protection factor and report biallelic DONSON mutations in 29 individuals with microc

44 By identifying biallelic EFL1 mutations in SDS, we define this leukemia

45 sessment alone could not accurately identify biallelic EIF2AK4 mutation carriers.

46 Biallelic EIF2AK4 mutations are found in patients classi

47 Patients with PAH with biallelic EIF2AK4 mutations had a shorter survival.

48 nts with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations.

49 Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency

50 casian patients was recently shown to be the biallelic expansion of a pentanucleotide (AAGGG)n repeat

51 ate a greater range of expression level than biallelic expression (BAE) genes, and this information m

52 We conclude that biallelic expression of EXITS genes in females explains

53 e of DNA methylation at KvDMR1, which led to biallelic expression of Kcnq1ot1 and suppression of mate

54 n of the maternally expressed UBE3A gene and biallelic expression of paternal-only genes.

55 Disruption of genomic imprinting leads to biallelic expression which may affect disease susceptibi

56 d imaging study in a cohort of 19 cases with biallelic FA2H mutations.

57 ument the first Mendelian phenotype due to a biallelic FANCM mutation.

58 HLRCC-associated tumors harbor biallelic FH inactivation that results in the accumulati

59 Both embryos and humans with biallelic FLVCR2 mutations exhibited reduced cerebral co

60 ations to phenotypic findings in humans with biallelic FLVCR2 mutations.

61 In most individuals, we identified biallelic frameshift variants in the molybdopterin bindi

62 ular supply of FAD cofactors, the finding of biallelic frameshift variants was unexpected.

63 We then compare mono- and biallelic genes at three distinct scales.

64 austive set of ten alternative scenarios for biallelic genetic variants.

65 Biallelic germline mutations affecting NTHL1 predispose

66 We describe 29 individuals carrying biallelic germline NTHL1 mutations from 17 families, of

67 ansgenic mice, we identified disease-linked, biallelic HAR mutations in active enhancers for CUX1, PT

68 In conclusion, we identified the same biallelic homozygous JUP mutation in two unrelated famil

69 Seven of 42 patients (16.7%) carried rare biallelic (homozygous or compound heterozygous) nonsynon

70 Four participants with biallelic IDH3A variants displayed a typical arRP phenot

71 lishes CTCF insulator activity, resulting in biallelic Igf2 expression that mimics increased levels s

72 unrelated families) were documented to share biallelic inactivating mutations affecting the NKX6-2 ho

73 We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encod

74 Analysis of tumor exomes with biallelic inactivating mutations in the investigated gen

75 Biallelic inactivation of BRCA1 or BRCA2 is associated w

76 ha subtype(4) and characterized by universal biallelic inactivation of ELP1 owing to somatic loss of

77 161 deficiency and the primary mechanism for biallelic inactivation of GPR161 in affected MB(SHH) tum

78 Biallelic inactivation of PALB2 and MLH1 was observed in

79 In tumor tissue tested with NGS, biallelic inactivation of RB1 was identified in 28 tumor

80 Biallelic inactivation of SMARCB1, encoding a member of

81 s, each containing multiple individuals with biallelic inactivation of SVBP caused by truncating vari

82 aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit S

83 defined by germline Ras disease and acquired biallelic inactivation of the respective genes in hemato

84 Specifically, the biallelic inactivation of the SWI/SNF subunit SMARCB1 re

85 number of copy number aberration changes and biallelic inactivation of tumor suppressor genes was inc

86 tumorigenic effects associated with somatic biallelic inactivation, although haploinsufficiency may

87 RCA1/2, respectively, selective pressure for biallelic inactivation, zygosity-dependent phenotype pen

88 ge repair (DDR) genes, of which 28 (42%) had biallelic inactivation.

89 In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoa

90 We have recently identified a biallelic intronic AAGGG repeat expansion in replication

91 analysis and genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replica

92 lysis defines the clinical features of human biallelic IRF8 deficiency, revealing a complex immunodef

93 , young, phenotypically normal patients with biallelic JUP mutations should be monitored for developm

94 it is very difficult to obtain homozygous or biallelic knockout mutants in citrus.

95 Using CRISPR/Cas9 technology, we generated biallelic knockout mutations in host genes encoding IRF5

96 at safe harbour loci (Rosa26 and AAVS1); (2) biallelic knockout of neurodevelopmental transcription f

97 Biallelic KO mutations of the target gene induced nephro

98 These data suggest that biallelic loss of BRCA1/2 in cancer cells may be a poten

99 ripheral nerve tumor, is associated with the biallelic loss of function of the NF1 tumor suppressor i

100 hypermethylation, RAD51C hypermethylation or biallelic loss of PALB2.

101 Biallelic loss of TSC1 or TSC2 is a known genetic driver

102 assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples

103 Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutatio

104 mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been

105 APC biallelic loss-of-function mutations are the most preval

106 sed by abnormal complement activation due to biallelic loss-of-function mutations in CD55.

107 We previously described biallelic loss-of-function mutations in EXPH5 in an auto

108 owed an increase in the frequency of somatic biallelic loss-of-function mutations in genes related to

109 es presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-ri

110 s with milder, later-onset NM and identified biallelic loss-of-function mutations in myopalladin (MYP

111 Here, we identified two homozygous biallelic loss-of-function mutations in PIK3CD and TNFRS

112 hput exome-sequencing approach to identify 2 biallelic loss-of-function mutations in PTPRJ that cause

113 t patients from six unrelated pedigrees with biallelic loss-of-function mutations in RIPK1 presenting

114 Affected individuals were found to possess biallelic loss-of-function mutations in the gene encodin

115 Biallelic loss-of-function mutations in the RNA-binding

116 These studies demonstrate that biallelic loss-of-function mutations in THPO cause BMF,

117 quencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13.

118 olvement was more prevalent in missense than biallelic loss-of-function variants (82-93% vs 53%; p =

119 Biallelic loss-of-function variants in HAAO or KYNU, two

120 In contrast, biallelic loss-of-function variants in LAMB3 cause reces

121 al-recessive thrombocytopenia, we identified biallelic loss-of-function variants in PTPRJ .

122 Our results suggest that biallelic loss-of-function variants in SLC7A6OS are a no

123 We also identified biallelic loss-of-function variants in VPS41, another HO

124 died 12 human families with PCH7, uncovering biallelic, loss-of-function mutations in TOE1, which enc

125 compound heterozygous null mutations in LRBA Biallelic LRBA mutations cause common variable immunodef

126 nd haematological findings that is caused by biallelic MADD variants.

127 cal data show that in general, patients with biallelic MAK mutations had a later age of onset and a m

128 led Y-chromosomal haplotyping in horses with biallelic markers and demonstrate the potential of our a

129 for testing Hardy-Weinberg equilibrium with biallelic markers at the X chromosome.

130 r facultatively sexual haploids possessing a biallelic mating-type locus (e.g., Chlamydomonas, ascomy

131 tin expression in four further patients with biallelic MFN2 mutations and at least one p.Arg707Trp al

132 with appropriate management of patients with biallelic mismatch repair deficiency (BMMRD) syndrome, a

133 Here, we identify biallelic missense and frameshift mutations in NARS1 in

134 We report biallelic missense and frameshift pathogenic variants in

135 , and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, wh

136 five unrelated families with five different biallelic missense variants in VARS.

137 COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role

138 the retinal and auditory symptoms in (i) 56 biallelic molecularly confirmed USH2A patients and (ii)

139 In humans a biallelic mutation in the PTRH2 gene causes infantile-on

140 iPSC-derived neurons with either a single or biallelic mutation in TSC2 demonstrated hypersynchrony a

141 SC2 protein expression, and 1 culture showed biallelic mutation in TSC2, one of which was germline an

142 We have achieved a biallelic mutation rate of 44.4% and a homozygous mutati

143 unrelated families, a previously unreported biallelic mutation, JUP: c.201delC; p.Ser68Alafs(*)92, w

144 ccurs early in life as a result of monogenic biallelic mutations affecting lymphocyte cytotoxicity.

145 To our knowledge, no germline biallelic mutations affecting this complex have been rep

146 K genes, we demonstrated 45-86% frequency of biallelic mutations and the successful creation of singl

147 Moreover, BAP1-acquired biallelic mutations are frequent in human cancers.

148 AM is an elegant model of malignancy because biallelic mutations at a single genetic locus confer all

149 LbCpf1 generated biallelic mutations at nearly 100% efficiency at four in

150 cell-derived dendritic cells (iPS-DCs) with biallelic mutations can be used to investigate the regul

151 However, no patient with null biallelic mutations has ever been described, and murine

152 To date, biallelic mutations in 31 ARS genes are known to cause r

153 Arginase deficiency is caused by biallelic mutations in arginase 1 (ARG1), the final step

154 rge cohorts of affected individuals revealed biallelic mutations in ARHGEF18 in three such individual

155 ur individuals from unrelated families where biallelic mutations in C1QBP cause a defect in mitochond

156 Unlike patients with biallelic mutations in CARD11 causing severe CID, the R3

157 me sequencing, we identified three different biallelic mutations in CHRNA3, which encodes the alpha3

158 Biallelic mutations in CPT2 cause carnitine palmitoyltra

159 als, whole-exome sequencing (WES) identified biallelic mutations in DNAJC12, which encodes a heat sho

160 up of these individuals, defined by germline biallelic mutations in DNAJC21 (DNAJ homolog subfamily C

161 In both families we identify biallelic mutations in DNASE2, associated with a loss of

162 Biallelic mutations in Dock2 have been identified in pat

163 Here, we report biallelic mutations in EFL1 in 3 unrelated individuals w

164 Biallelic mutations in EIF2AK4 were identified in 5 pati

165 Biallelic mutations in either TMC6 or TMC8 are detected

166 In summary, we show that biallelic mutations in EXTL3 disturb glycosaminoglycan s

167 Patients harbored biallelic mutations in genes encoding the spliceosome co

168 disability, and muscular hypotonia revealed biallelic mutations in IARS.

169 induced pluripotent stem cells (hIPSCs) with biallelic mutations in IRF5, demonstrating for the first

170 Here we have described biallelic mutations in IRF8, which encodes an interferon

171 erythrokeratoderma, but our study shows that biallelic mutations in KDSR are implicated in an extende

172 hy Aicardi-Goutieres syndrome, we identified biallelic mutations in LSM11 and RNU7-1, which encode co

173 ation is not restricted to the rare cases of biallelic mutations in NAD synthesis pathway genes.

174 We identified biallelic mutations in PDXK in 5 individuals from 2 unre

175 polymerase delta complex caused by germline biallelic mutations in POLD1 or POLD2 as the underlying

176 PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial diseas

177 c lymphohistiocytosis (HLH) can be caused by biallelic mutations in PRF1, encoding perforin, or UNC13

178 a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five ind

179 all young-onset patients, 10 (3.3%) carried biallelic mutations in PRKN or PINK1.

180 the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initia

181 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS])

182 Here we show that biallelic mutations in the human XRCC1 gene are associat

183 Biallelic mutations in the ITK gene cause a T-cell prima

184 syndrome (CHS) is a rare disorder caused by biallelic mutations in the lysosomal trafficking regulat

185 Biallelic mutations in the MUTYH gene predispose individ

186 sheath Schwann cell tumors characterized by biallelic mutations in the neurofibromatosis type 1 (NF1

187 While biallelic mutations in the PALB2 tumor suppressor cause

188 Biallelic mutations in the photoreceptor-expressed aryl

189 Patients with a genetic (biallelic mutations in the SBDS gene) or clinical diagno

190 Here we report biallelic mutations in the sorbitol dehydrogenase gene (

191 A group of 12 patients with biallelic mutations in the WFS1 gene recruited from the

192 anconi anemia-D1 subtype are born alive with biallelic mutations in this gene.

193 Here, we identify biallelic mutations in three patients from two unrelated

194 Therefore, biallelic mutations in TSC2 and associated molecular dys

195 siological changes in human neurons but that biallelic mutations in TSC2 are necessary to induce gene

196 However, only biallelic mutations in TSC2 resulted in elevated neurona

197 t gene induced nephrogenic defects; however, biallelic mutations involving small in-frame deletions d

198 Our genetic studies identified biallelic mutations of PRUNE1 as responsible.

199 Recently, we identified biallelic mutations of SLC25A46 in patients with multipl

200 inally, the heritable form of PVOD is due to biallelic mutations of the EIF2AK4 gene.

201 Biallelic mutations of three prime repair exonuclease 1

202 However, only neurons with biallelic mutations of TSC2 demonstrated hyperactivity a

203 fluorescence (MCF), and CD107a MCF to detect biallelic mutations were 59.5%, 96.6%, and 93.8%, with s

204 Biallelic mutations were found in VPS33B, encoding VPS33

205 nically the most prevalent symptom caused by biallelic mutations within the leucine zipper-like trans

206 role of TP53, patients harbor both mono- and biallelic mutations(10).

207 gions of all linked genes failed to identify biallelic mutations.

208 coding eEF1A2, obtaining a high frequency of biallelic mutations.

209 tic MMR mutations (including 2 with germline biallelic MUTYH mutations); and 1 patient had somatic ML

210 ns in high-penetrance genes (five APC, three biallelic MUTYH, 11 BRCA1/2, two PALB2, one CDKN2A, and

211 enetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic MUTYH; 1, SMAD4); 13 patients had mutations in

212 In NLF (biallelic NF1 inactivation) and SK-N-AS (NRAS Q61K) cell

213 In PNFs, Schwann cells (SCs) have biallelic NF1 mutations necessary for tumorigenesis.

214 in the Schwann cell lineage, in addition to biallelic Nf2 gene inactivation, we generated the first

215 The genetic disease caused by biallelic NFASC variants includes neurodevelopmental imp

216 Biallelic null mutations in genes encoding interferon ga

217 including severe combined immune deficiency (biallelic null mutations), B-cell expansion with nuclear

218 We propose EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndro

219 -six affected subjects from 61 families with biallelic or multiple pathogenic/disease-associated EYS

220 ree mtDNA serum levels in both patients with biallelic or with heterozygous PRKN/PINK1 mutations comp

221 gosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyropho

222 nce of TBX4 transcripts in this proband with biallelic p.Tyr113(*) stop-gain mutations revealed nonse

223 These mice retain biallelic p53 and thus, normal basal p53 levels and acti

224 Biallelic pathogenic mutations defining FHL were found i

225 et-Biedl syndrome (BBS) with known recessive biallelic pathogenic mutations in one of 17 BBS genes fo

226 Biallelic pathogenic TRPM1 mutations were identified in

227 We show that patients with biallelic pathogenic USH2A mutations also have clear and

228 Herein, we report biallelic pathogenic variants in OTUD6B in 12 individual

229 Biallelic pathogenic variants in PLPBP (formerly called

230 nine, lysine, ornithine) transport caused by biallelic pathogenic variants in SLC7A7, which encodes t

231 ive diagnosis relies on the demonstration of biallelic pathogenic variants in SMN1 gene.

232 ds.RESULTSWe identified 39 patients, in whom biallelic pathogenic variants in the CUBN gene were asso

233 patient with mitochondrial disease caused by biallelic pathogenic variants in TOP3A, characterized by

234 Standard sequencing methods identified biallelic pathogenic variants in XYLT1 in only two famil

235 t and promotes the development of B-ALL with biallelic Pax5 alteration in vivo.

236 nd subtype is defined by PAX5 p.Pro80Arg and biallelic PAX5 alterations.

237 We identified five individuals with biallelic PCYT2 variants clinically characterized by glo

238 The genome-wide biallelic pipeline removed 82.11% of discordant and 14.8

239 y, we detected one unrelated individual with biallelic PMS2 germline mutations, representing constitu

240 with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsol

241 ted (i) elevated IL6 levels in patients with biallelic PRKN/PINK1 mutations compared to healthy contr

242 treatment-resistant tumor uniquely harbored biallelic PTEN loss and had reduced expression of two ne

243 In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (st

244 Cases with biallelic RASGRP2 variants had abnormal mucocutaneous, s

245 in 4 tumors (2 with wild-type RB1 and 2 with biallelic RB1 inactivation).

246 Using exome sequencing, we identified rare biallelic, recurrent, predicted likely pathogenic varian

247 ngs demonstrate an essential contribution of biallelic RELA expression in protecting stromal cells fr

248 first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sen

249 including loss of methylation at KvDMR1 and biallelic repression of Cdkn1c, suggesting that deficien

250 spose to breast and ovarian cancer, and when biallelic, result in a severe subtype of Fanconi anemia.

251 Study Population: Seventy individuals with biallelic RPE65 mutation-associated IRD.

252 or both, with confirmed genetic diagnosis of biallelic RPE65 mutations, sufficient viable retina, and

253 timing of treatment for IRD attributable to biallelic RPE65 mutations.

254 tem cell lines with intended monoallelic and biallelic sequence changes in approximately 3 months.

255 ed polymorphism genome-wide, with only 5,766 biallelic single nucleotide polymorphisms (SNPs) total.

256 xpression by immunohistochemical analysis or biallelic SMARCB1 (the gene that encodes INI1) alteratio

257 ed from unrelated polyclonal infections than biallelic SNP barcodes.

258 se (> 7 years) had a tumor at diagnosis with biallelic somatic deletion and loss-of-function mutation

259 were identified, and available tumors showed biallelic somatic inactivation of TP53.

260 ter hypermethylation and germline mutations, biallelic somatic inactivation was seen in approximately

261 y mapping and exome sequencing to identify a biallelic stop-gain variant in RASGRP1.

262 promotes targeting efficiency up to 85% and biallelic targeting efficiency up to 76.5% of total muta

263 ad multiple hits (multi-hit) consistent with biallelic targeting.

264 Here, we report biallelic TBC1D23 mutations in six individuals from four

265 erexpression of GATA3 leads predominantly to biallelic TCRbeta gene (Tcrb) recombination.

266 sification of lines as having monoallelic or biallelic TERT expression was found to be inadequate for

267 opulation-based registry uncovered recurrent biallelic TMEM30A loss-of-function mutations, which were

268 of H4K16ac corresponds to nearly halving of biallelic transcription in males, a pattern convergent t

269 Individuals with biallelic TRIP13 or BUB1B mutations have a high risk of

270 Biallelic truncating mutations in NYNRIN were identified

271 In all affected patients, we found biallelic truncating mutations in SFRP4, the gene encodi

272 ients from three independent families having biallelic truncating variants in GLI1 and developmental

273 ations showed that most of the patients with biallelic truncating variants presented with CRD and tha

274 d share similar gene expression profiles and biallelic TSC2 mutations, supporting a potential uterine

275 of a consanguineous UTS family identified a biallelic TUBB2B mutation, resulting in a p.R390Q amino

276 nt central neurological involvement in NFASC biallelic variant carriers highlights the importance of

277 Biallelic variants detected in only 6 different autosoma

278 Biallelic variants in ASNA1 cause severe pediatric cardi

279 We also describe two families with biallelic variants in ATAD3A, including a homozygous var

280 Here we describe two patients harbouring biallelic variants in BCS1L; the first with a heterozygo

281 y members, we identified 11 individuals with biallelic variants in CPAMD8 from 7 unrelated families.

282 Our data suggest that rare biallelic variants in DHPS result in reduced enzyme acti

283 We identified five patients with biallelic variants in EXOSC5, which encodes a structural

284 ved cardiomyocytes from NS patients carrying biallelic variants in LZTR1 and identified a unique dise

285 ng from retinitis pigmentosa associated with biallelic variants in MERTK.

286 This study provides evidence that biallelic variants in METTL5 cause ID and microcephaly i

287 (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL2 and characterized by bleedi

288 as three individuals from two families with biallelic variants in NXN that co-segregate with the phe

289 ts harbored rare and potentially deleterious biallelic variants in polycystic kidney disease 1 like 1

290 ike syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.

291 nked ocular albinism and another proband had biallelic variants in SLC38A8, a glutamine transporter g

292 fy patients with chronic proteinuria who had biallelic variants in the cubilin gene (CUBN).

293 Biallelic variants in the EYS gene are a major cause of

294 g of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase (VARS) in te

295 ongenital megabladder in males only, whereas biallelic variants were associated with disease in both

296 We identified 6 families with biallelic WDR72 mutations by whole exome sequence analys

297 Biallelic WFS1 mutations were found in 3 of 24 unrelated

298 role in tooth development, and patients with biallelic WNT10A mutation and mice lacking Wnt10a show t

299 imprinted X chromosome inactivation prevents biallelic X silencing.

300 In female reset cells, appearance of biallelic X-linked gene transcription indicates reactiva