ライフサイエンスコーパス: biallelic

1 of which are monoallelic and others that are biallelic.

2 Mammary-restricted biallelic ablation of Prkar1a, which encodes for the cri

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 While half of these are biallelic and include endogenous retrovirus (ERV) target

6 All mutations identified were biallelic and included synonymous mutations altering spl

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

8 In total, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underly

9 ian filtering (selecting probands with rare, biallelic and putatively damaging variants in the same g

10 Biallelic ARMC5 inactivation in PMAH suggested that ARMC

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

12 esponse (DDR) defects, particularly TP53 and biallelic ataxia telangiectasia mutated (ATM) aberration

13 s, indels, and structural variants, revealed biallelic BRCA2 disruptions in a subset of samples.

14 ase from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.As

15 orter activity, whereas demethylation caused biallelic CD177 expression.

16 Biallelic CD19 gene mutations cause common variable immu

17 ata for the association of TERT-p mutations, biallelic CDKN2A deletion, biallelic PTEN deletion, kina

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

19 quencing data of 14 samples characterized by biallelic CEBPA (CEBPA(bi)) mutations included in the Le

20 n the absence of FLT3-ITD, mutated TP53, and biallelic CEBPA mutations were identified as important m

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

22 nes remained similar between monoallelic and biallelic clones.

23 Although many common biallelic CNV regions were well-tagged by common SNPs, w

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

25 or phenotypic associations compared to their biallelic counterparts.

26 Biallelic defects in all of these molecules have been as

27 BE2T induced a cellular phenotype similar to biallelic defects in early FA genes with the absence of

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

29 dditionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4.

30 wed a single B-cell lymphoma to develop with biallelic deletion of Dicer.

31 Of particular interest is the frequent biallelic deletion of the proapoptotic BCL-2 family prot

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

33 lent response to chemotherapy, due to large, biallelic deletions in the T(17) intron repeat of HSP110

34 etinal phenotype compared with patients with biallelic DHDDS mutations.

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

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

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

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

39 s the combined contribution of deletions and biallelic duplications-and that this variation in gene d

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

41 Biallelic EIF2AK4 mutations are found in patients classi

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

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

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

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

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

47 n the SGZ, and that this is regulated by the biallelic expression of IGF2 in the vascular compartment

48 to increased frequencies of lymphocytes with biallelic expression of IgH or TCRbeta genes.

49 XIST RNA localization patterns, evidence of biallelic expression of immunity-related genes, and incr

50 Biallelic expression of imprinted genes in LOS was assoc

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

52 cted greater frequencies of lymphocytes with biallelic expression or aberrant V-to-DJ rearrangement o

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

54 othelial-derived neurogenic factor requiring biallelic expression, with mutants having reduced activa

55 ifference between tissues with imprinted and biallelic expression.

56 aped inactivation, showing varying levels of biallelic expression.

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

58 c cases of myeloid neoplasms as well as in a biallelic fashion in 50% of patients with germline DDX41

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

60 might explain why affected individuals with biallelic FLAD1 frameshift variants still harbor substan

61 of at least one engineered form of AMA1 in a biallelic formulation resulted in an antibody response w

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

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

64 usly, half of the developing cells switch to biallelic Gata3 transcription abruptly at midthymopoiesi

65 ow the observed loss-of-function arises from biallelic gene disruption in class II transactivator tha

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

67 a striking exception in individuals in whom biallelic germline deficiency for mismatch repair is com

68 In the present study, we identified biallelic germline MSH3 mutations in individuals with a

69 We identified biallelic germline mutations in SPRTN (also called C1orf

70 Here, we identify the first FA patient with biallelic germline mutations in the ubiquitin E2 conjuga

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

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

73 n) error of development and immunity because biallelic hypomorphic mutations are associated with impa

74 replacement (PTGR) approach where endogenous biallelic ICAD is knocked down and simultaneously replac

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

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

77 rity of cases, these disorders are caused by biallelic inactivating germline mutations in genes such

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

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

80 Biallelic inactivating mutations in TBCK (TBC1-domain-co

81 ntified a child with severe BMF who harbored biallelic inactivating mutations of the translesion DNA

82 ost significantly mutated CMG is DNAAF1 with biallelic inactivation and loss of DNAAF1 expression sho

83 loma driver genes and the critical nature of biallelic inactivation events affecting tumor suppressor

84 esothelioma cells from Bap1(+/-) mice showed biallelic inactivation of Bap1, consistent with its prop

85 Biallelic inactivation of BRCA1 or BRCA2 is associated w

86 Biallelic inactivation of CDKN2A emerged exclusively in

87 ly, TSC is said to occur through a classical biallelic inactivation of either TSC genes (TSC1, hamart

88 diator complex subunit 12 (MED12) mutations, biallelic inactivation of fumarate hydratase (FH), and c

89 We demonstrate that biallelic inactivation of Lkb1 and Pten in the mouse lun

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

91 bility that gliomagenesis requires more than biallelic inactivation of the NF1 tumor suppressor gene

92 In ccRCC the biallelic inactivation of the VHL gene leads to stabiliz

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

94 ntly, and this epigenetic mechanism leads to biallelic inactivation.

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

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

97 There is an approved drug for biallelic knock-down of the APOB gene as treatment for f

98 We also efficiently obtained biallelic knock-in clones, using single-stranded oligode

99 that "dual-sgRNA targeting" is essential for biallelic knockin of FRT sequences to flank the exon.

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

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

102 liver cancer, we created a mouse model with biallelic liver-specific deletion of Pten and Grp78 medi

103 ctor can incorporate the effects of multiple biallelic loci (linked or unlinked) contributing genotyp

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

105 Mice with biallelic loss of p120 catenin progressively develop hig

106 ell carcinomas (ccRCCs) are characterized by biallelic loss of the von Hippel-Lindau tumor suppressor

107 Our observations suggest that biallelic loss of WT1 sustains the inhibitory histone me

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

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

110 Biallelic loss-of-function mutant alleles underlie sever

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

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

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

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

115 dial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five gene

116 patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, the mouse

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

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

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

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

121 me sequencing, we identified three different biallelic loss-of-function variants in SQSTM1 in nine af

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

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

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

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

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

127 Biallelic mismatch repair deficiency (bMMRD) is a highly

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

129 cancer genomes from children with inherited biallelic mismatch repair deficiency (bMMRD).

130 Whole-exome sequencing revealed biallelic missense alterations of BRF1 in three families

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

132 We identified biallelic missense mutations in tetratricopeptide repeat

133 Our results also indicate that biallelic missense mutations in the Fraser/MOTA/BNAR spe

134 Whole exome sequencing revealed biallelic missense mutations in the NSMCE3 (also known a

135 ls from four unrelated pedigrees to identify biallelic missense mutations in the nuclear-encoded mito

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

137 n-mosaic livestock animals with pre-designed biallelic modifications.

138 ings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mu

139 Given a set of biallelic molecular markers, such as SNPs, with genotype

140 at all sites targeted, and plants containing biallelic multiplex mutations at LIG1, Ms26, and Ms45 we

141 and somatic loss of heterozygosity, in whom biallelic mutant cells can be tracked by absent Fas expr

142 d Cryptosporidium infections, and identify a biallelic mutation in the MAP3K14 gene encoding NIK (NF-

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

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

145 ted by microcephalic primordial dwarfism and biallelic mutation of RTTN was identified.

146 Biallelic mutations abrogating DNase activity cause auto

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

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

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

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

151 f breast, pancreatic, and other cancers, and biallelic mutations cause Fanconi anemia (FA).

152 dentified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized h

153 We thereby detected biallelic mutations in a key component of DAP-encoding g

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

155 Biallelic mutations in ATM cause ataxia-telangiectasia (

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

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

158 TD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40.

159 ing, we identified five individuals carrying biallelic mutations in COQ4.

160 hat Wilms tumors may also be associated with biallelic mutations in DICER1 or DROSHA, crucial for miR

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

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

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

164 Biallelic mutations in EIF2AK4 were identified in 5 pati

165 We thereby detected biallelic mutations in EMP2 (epithelial membrane protein

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

167 es consistent with Filippi syndrome revealed biallelic mutations in four subjects.

168 autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single

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

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 ng and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seve

173 In contrast, we have recently found that biallelic mutations in LIG4 are a common cause of microc

174 ing pattern of leukoencephalopathy to detect biallelic mutations in LYRM7 in patients with biochemica

175 We identified biallelic mutations in NANS, the gene encoding the synth

176 dividuals with fever-dependent RALF revealed biallelic mutations in NBAS.

177 Here, we report that biallelic mutations in NCAPD2, NCAPH, or NCAPD3, encodin

178 anemia is a genetic disorder resulting from biallelic mutations in one of the 17 FANC genes.

179 n was decreased, comparable to patients with biallelic mutations in one of the genes in the degranula

180 whole-exome sequencing approach, identified biallelic mutations in PEX1 or PEX6 in six of them.

181 Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leadin

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

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

184 They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrro

185 patients with Griscelli syndrome type 2 with biallelic mutations in RAB27A in the absence of albinism

186 Here we report the identification of biallelic mutations in Receptor Expression Enhancer Prot

187 igher nasal nitric oxide in individuals with biallelic mutations in RSPH1 provides evidence of a uniq

188 ied a transforming MLL-NRIP3 fusion gene and biallelic mutations in SETD2 (encoding a histone H3K36 m

189 Inherited forms of HLH are caused by biallelic mutations in several effectors of granule-depe

190 We detected biallelic mutations in SLC26A1 (solute carrier family 26

191 ome (RJALS) patient cells with monogenic and biallelic mutations in SPRTN are hypersensitive to DPC-i

192 We report that biallelic mutations in TBCD, encoding one of the five co

193 ive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene.

194 Biallelic mutations in the alanyl-transfer (t)RNA synthe

195 Results We identified biallelic mutations in the dedicator of cytokinesis 2 ge

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

197 e exome sequencing (WES), we have identified biallelic mutations in the gene encoding poly(A)-specifi

198 Here we show that biallelic mutations in the gene SNORD118, encoding the b

199 Biallelic mutations in the genes encoding the genome sur

200 Biallelic mutations in the genes encoding the three RNas

201 ons in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding pr

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

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

204 Missense biallelic mutations in the MYO9A gene, encoding an uncon

205 Biallelic mutations in the photoreceptor-expressed aryl

206 We show that individuals with biallelic mutations in these genes of seemingly central

207 The newly identified recessive biallelic mutations in these six genes represent the mol

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

209 s of COB identified six families affected by biallelic mutations in TMTC3 (encoding transmembrane and

210 Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-

211 We identified biallelic mutations in TXNL4A, a member of this complex,

212 Biallelic mutations in WDR1 affecting distinct antiparal

213 We report the identification of biallelic mutations in XRCC4 in five families.

214 Biallelic mutations including 2 likely novel mutations i

215 Biallelic mutations of HPSE2 are discovered from UFS pat

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

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

218 PVOD may be sporadic or heritable because of biallelic mutations of the EIF2AK4 gene coding for GCN2.

219 Biallelic mutations of three prime repair exonuclease 1

220 rested clones of renal progenitor cells with biallelic mutations of WT1; recently, it has been found

221 All patients with biallelic mutations presented with severe hypertrophic a

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

223 Biallelic mutations were found in VPS33B, encoding VPS33

224 Biallelic mutations were identified in all patients, inc

225 No HNF1B variations or PKHD1 biallelic mutations were identified.

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

227 e observed when limited to participants with biallelic mutations.

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

229 ons in DNA mismatch repair genes (n = 47) or biallelic MUTYH mutations (n = 6).

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

231 utional mismatch repair deficiency, two with biallelic MUTYH mutations, and one with Li-Fraumeni synd

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

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

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

235 Biallelic null mutations in genes encoding interferon ga

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

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

238 Individuals with biallelic PARN mutations and PARN-depleted cells exhibit

239 Biallelic partial loss-of-function mutations in multiple

240 Biallelic pathogenic mutations defining FHL were found i

241 epsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes a

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

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

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

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

246 Strikingly, rare biallelic point mutations-identified by whole-genome and

247 B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1

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

249 psy identified four additional children with biallelic PROSC mutations.

250 ding the genetic landscape, 15 patients with biallelic PRRT2 mutations and six patients with 16p11.2

251 TERT-p mutations, biallelic CDKN2A deletion, biallelic PTEN deletion, kinase fusions, BRAF/NRAS mutat

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

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

254 Cases with biallelic RASGRP2 variants had abnormal mucocutaneous, s

255 retinal tumour that initiates in response to biallelic RB1 inactivation and loss of functional retino

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

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

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

259 We identified biallelic SACS variants in 33 patients from SPATAX, and

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

261 We identified inactivating biallelic SMARCA4 mutations in 100% of the 12 SCCOHT tum

262 Biallelic Smc3 loss induced bone marrow aplasia with pre

263 characterize a unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagos

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

265 uding all 7 patients with BRCA2 loss (4 with biallelic somatic loss, and 3 with germline mutations) a

266 matic mutation, and one lesion contained two biallelic somatic mutations.

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

268 lleles, which was necessary for the mono- to biallelic switch in gene expression.

269 Blinatumomab, a biallelic T cell engaging the CD3-CD19 monoclonal antibo

270 notypes in somatic cells following efficient biallelic targeting by Cas9 expressed in a ubiquitous or

271 eting of the colonies on one allele of which biallelic targeting occurred at an average of 14% with T

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

273 ased frequencies of ATM-deficient cells with biallelic TCRbeta expression.

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

275 cy to increase the frequencies of cells with biallelic TCRbeta or IgH expression while decreasing the

276 Primary CLL cells with biallelic TP53 or ATM inactivation were xenotransplanted

277 We show that the monoallelic-to-biallelic transcriptional switch is stably maintained an

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

279 Here, we have identified biallelic truncating CSPP1 (centrosome and spindle pole

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

281 Biallelic truncating mutations in the newly identified g

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

283 enesis was provided by the identification of biallelic, truncating mutations of the SMARCB1 gene in m

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

285 interestingly, sarcomatoid elements acquired biallelic tumor protein p53 (TP53) mutations in 32% of t

286 Two additional individuals with biallelic UBA5 variants were identified from the UK-base

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

288 family with multiple branches, we identified biallelic variants in DCPS in three affected individuals

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

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

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

292 d families and affected by likely pathogenic biallelic variants in TBC1-domain-containing kinase (TBC

293 uencing in the North American, we identified biallelic variants in the caseinolytic peptidase B homol

294 Exome sequencing identified biallelic variants of VAC14 that were inherited from una

295 ed from 11 patients carrying either mono- or biallelic variants, including 1 case harboring a large d

296 model and a binomial test for rare, presumed biallelic, variants, we found DRAM2 to be the most stati

297 intrahepatic cholestasis type 3 is caused by biallelic variations of ABCB4, most often (>/=70%) misse

298 Biallelic WFS1 mutations were found in 3 of 24 unrelated

299 paper we lay down the foundation for testing biallelic X-chromosomal markers for HWE.

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