These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
223 related articles for article (PubMed ID: 34587367)
1. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Wang L; Liu P; Bi W; Sim T; Wang X; Walkiewicz M; Leduc MS; Meng L; Xia F; Eng CM; Yang Y; Yuan B; Dai H Mol Genet Genomic Med; 2021 Nov; 9(11):e1792. PubMed ID: 34587367 [TBL] [Abstract][Full Text] [Related]
2. Accurate detection of clinically relevant uniparental disomy from exome sequencing data. Yauy K; de Leeuw N; Yntema HG; Pfundt R; Gilissen C Genet Med; 2020 Apr; 22(4):803-808. PubMed ID: 31767986 [TBL] [Abstract][Full Text] [Related]
3. Uniparental disomy in a population of 32,067 clinical exome trios. Scuffins J; Keller-Ramey J; Dyer L; Douglas G; Torene R; Gainullin V; Juusola J; Meck J; Retterer K Genet Med; 2021 Jun; 23(6):1101-1107. PubMed ID: 33495530 [TBL] [Abstract][Full Text] [Related]
4. SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory. Ngo C; Baluyot M; Bennetts B; Carmichael J; Clark A; Darmanian A; Gayagay T; Jones L; Nash B; Clark M; Jose N; Robinson S; St Heaps L; Wright D Pathology; 2023 Oct; 55(6):818-826. PubMed ID: 37414616 [TBL] [Abstract][Full Text] [Related]
6. A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. King DA; Fitzgerald TW; Miller R; Canham N; Clayton-Smith J; Johnson D; Mansour S; Stewart F; Vasudevan P; Hurles ME; Genome Res; 2014 Apr; 24(4):673-87. PubMed ID: 24356988 [TBL] [Abstract][Full Text] [Related]
7. Automatized detection of uniparental disomies in a large cohort. Moch J; Radtke M; Liehr T; Eggermann T; Gilissen C; Pfundt R; Astuti G; Hentschel J; Schumann I Hum Genet; 2024 Aug; 143(8):955-964. PubMed ID: 39012485 [TBL] [Abstract][Full Text] [Related]
8. Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting. Li M; Hao N; Jiang Y; Xue H; Dai Y; Wang M; Bai J; Lv Y; Qi Q; Zhou X Sci Rep; 2024 Jan; 14(1):238. PubMed ID: 38168635 [TBL] [Abstract][Full Text] [Related]
9. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Dharmadhikari AV; Ghosh R; Yuan B; Liu P; Dai H; Al Masri S; Scull J; Posey JE; Jiang AH; He W; Vetrini F; Braxton AA; Ward P; Chiang T; Qu C; Gu S; Shaw CA; Smith JL; Lalani S; Stankiewicz P; Cheung SW; Bacino CA; Patel A; Breman AM; Wang X; Meng L; Xiao R; Xia F; Muzny D; Gibbs RA; Beaudet AL; Eng CM; Lupski JR; Yang Y; Bi W Genome Med; 2019 May; 11(1):30. PubMed ID: 31101064 [TBL] [Abstract][Full Text] [Related]
10. Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability. Liu J; Chen B; Liu Y; Kong J; Zhang B; Han L; Mei D; Ma CY; Shang Q; Xie Z; Xiao M; Mei S; Zhang Y; Gao C; Li D Eur J Med Genet; 2022 Sep; 65(9):104554. PubMed ID: 35793769 [TBL] [Abstract][Full Text] [Related]
11. Uniparental disomy of multiple chromosomes in two cases with a complex phenotype. Polonis K; Lopes JL; Cabral H; Babcock HE; Kline L; Ruiz KM; Schwartz S; Hasadsri L; Rowsey RA; Hoppman NL; Grant CL Am J Med Genet A; 2023 Jul; 191(7):1978-1983. PubMed ID: 37134191 [TBL] [Abstract][Full Text] [Related]
12. Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay. Yeung KS; Ho MSP; Lee SL; Kan ASY; Chan KYK; Tang MHY; Mak CCY; Leung GKC; So PL; Pfundt R; Marshall CR; Scherer SW; Choufani S; Weksberg R; Hon-Yin Chung B J Med Genet; 2018 Dec; 55(12):847-852. PubMed ID: 30007940 [TBL] [Abstract][Full Text] [Related]
13. Uniparental disomy and human disease: an overview. Yamazawa K; Ogata T; Ferguson-Smith AC Am J Med Genet C Semin Med Genet; 2010 Aug; 154C(3):329-34. PubMed ID: 20803655 [TBL] [Abstract][Full Text] [Related]
14. A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing. Li H; Wang L; Zhang C Mol Genet Genomic Med; 2023 Feb; 11(2):e2110. PubMed ID: 36464789 [TBL] [Abstract][Full Text] [Related]
15. Multiple methods used for type detection of uniparental disomy in paternity testing. Su H; Sun T; Chen M; Liu J; Wang X; Chen Y; Ren W; Zhang G; Yan J; Yun K Int J Legal Med; 2020 May; 134(3):885-893. PubMed ID: 31807870 [TBL] [Abstract][Full Text] [Related]
16. A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family. Fu J; Shen S; Cheng J; Lv H; Fu J J Cell Mol Med; 2020 Jul; 24(14):7743-7750. PubMed ID: 32449591 [TBL] [Abstract][Full Text] [Related]
18. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. Inbar-Feigenberg M; Choufani S; Cytrynbaum C; Chen YA; Steele L; Shuman C; Ray PN; Weksberg R Am J Med Genet A; 2013 Jan; 161A(1):13-20. PubMed ID: 23239666 [TBL] [Abstract][Full Text] [Related]
19. Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders? Huo X; Lu X; Lu D; Liu H; Liu Y; Zhao Q; Sun Y; Dai W; Qiu W; Yu Y; Fan Y Clin Chem Lab Med; 2025 Jan; 63(1):87-96. PubMed ID: 39022805 [TBL] [Abstract][Full Text] [Related]
20. Utilization of a SNP microarray to detect uniparental disomy: Implications and outcomes. Arreola A; Haskell G; Gadi I; Penton A; Schwartz S Genet Med; 2024 Dec; 26(12):101275. PubMed ID: 39310964 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]