211 related articles for article (PubMed ID: 34697084)
1. Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cook CB; Armstrong L; Boerkoel CF; Clarke LA; du Souich C; Demos MK; Gibson WT; Gill H; Lopez E; Patel MS; Selby K; Abu-Sharar Z; ; Elliott AM; Friedman JM
Cold Spring Harb Mol Case Stud; 2021 Dec; 7(6):. PubMed ID: 34697084
[TBL] [Abstract][Full Text] [Related]
2. Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR; Lee K; Pfau RB; Reshmi SC; Corsmeier DJ; Hashimoto S; Dave-Wala A; Jayaraman V; Koboldt D; Matthews T; Mouhlas D; Stein M; McKinney A; Grossman T; Kelly BJ; White P; Magrini V; Wilson RK; Mardis ER; Cottrell CE
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32371413
[TBL] [Abstract][Full Text] [Related]
3. Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Wright CF; Prigmore E; Rajan D; Handsaker J; McRae J; Kaplanis J; Fitzgerald TW; FitzPatrick DR; Firth HV; Hurles ME
Nat Commun; 2019 Jul; 10(1):2985. PubMed ID: 31278258
[TBL] [Abstract][Full Text] [Related]
4. Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.
Zemet R; Van den Veyver IB; Stankiewicz P
Prenat Diagn; 2022 Jun; 42(7):811-821. PubMed ID: 35394072
[TBL] [Abstract][Full Text] [Related]
5. Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic J; Parenti I; Graul-Neumann L; Ruiz Gil S; Watrin E; Wendt KS; Werner R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
Eur J Med Genet; 2018 Nov; 61(11):680-684. PubMed ID: 29155047
[TBL] [Abstract][Full Text] [Related]
6. Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Domogala DD; Gambin T; Zemet R; Wu CW; Schulze KV; Yang Y; Wilson TA; Machol I; Liu P; Stankiewicz P
Hum Genomics; 2021 Dec; 15(1):72. PubMed ID: 34930489
[TBL] [Abstract][Full Text] [Related]
7. Robust identification of mosaic variants in congenital heart disease.
Manheimer KB; Richter F; Edelmann LJ; D'Souza SL; Shi L; Shen Y; Homsy J; Boskovski MT; Tai AC; Gorham J; Yasso C; Goldmuntz E; Brueckner M; Lifton RP; Chung WK; Seidman CE; Seidman JG; Gelb BD
Hum Genet; 2018 Feb; 137(2):183-193. PubMed ID: 29417219
[TBL] [Abstract][Full Text] [Related]
8. Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.
Bai T; Shen Y; Yang Y; Dai S; Liu H
Am J Med Genet A; 2024 Apr; 194(4):e63491. PubMed ID: 38057991
[TBL] [Abstract][Full Text] [Related]
9. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y; Tokita MJ; Chen ES; Ghosh R; Chen T; Feng Y; Gorman E; Gibellini F; Ward PA; Braxton A; Wang X; Meng L; Xiao R; Bi W; Xia F; Eng CM; Yang Y; Gambin T; Shaw C; Liu P; Stankiewicz P
Genome Med; 2019 Jul; 11(1):48. PubMed ID: 31349857
[TBL] [Abstract][Full Text] [Related]
10. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Gambin T; Liu Q; Karolak JA; Grochowski CM; Xie NG; Wu LR; Yan YH; Cao Y; Coban Akdemir ZH; Wilson TA; Jhangiani SN; Chen E; Eng CM; Muzny D; Posey JE; Yang Y; Zhang DY; Shaw C; Liu P; Lupski JR; Stankiewicz P
Genet Med; 2020 Nov; 22(11):1768-1776. PubMed ID: 32655138
[TBL] [Abstract][Full Text] [Related]
11. Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings.
Liu B; Chen M; Yang Y; Huang Y; Qian Y; Dong M
Clin Chim Acta; 2022 Jan; 525():23-28. PubMed ID: 34906559
[TBL] [Abstract][Full Text] [Related]
12. Grandparental genotyping enhances exome variant interpretation.
Daum H; Mor-Shaked H; Ta-Shma A; Shaag A; Silverstein S; Shohat M; Elpeleg O; Meiner V; Harel T
Am J Med Genet A; 2020 Apr; 182(4):689-696. PubMed ID: 32027463
[TBL] [Abstract][Full Text] [Related]
13. Mosaicism and prenatal diagnosis options: insights from retinoblastoma.
Dehainault C; Golmard L; Millot GA; Charpin A; Laugé A; Tarabeux J; Aerts I; Cassoux N; Stoppa-Lyonnet D; Gauthier-Villars M; Houdayer C
Eur J Hum Genet; 2017 Feb; 25(3):381-383. PubMed ID: 28000698
[TBL] [Abstract][Full Text] [Related]
14. MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.
Su JX; Velsher LS; Juusola J; Nezarati MM
Am J Med Genet A; 2021 Jan; 185(1):300-303. PubMed ID: 33091211
[TBL] [Abstract][Full Text] [Related]
15. [Genetic analysis of a mosaic case with low proportion mutation of
Jin X; Jin P; Yan K; Qian Y; Dong M
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 49(5):586-590. PubMed ID: 33210484
[TBL] [Abstract][Full Text] [Related]
16. Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.
Bedoukian E; Copenheaver D; Bale S; Deardorff M
Am J Med Genet A; 2018 May; 176(5):1249-1252. PubMed ID: 29681100
[TBL] [Abstract][Full Text] [Related]
17. Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
Dhamija R; Kirmani S; Wang X; Ferber MJ; Wieben ED; Lazaridis KN; Babovic-Vuksanovic D
Am J Med Genet A; 2014 Sep; 164A(9):2356-9. PubMed ID: 24888332
[TBL] [Abstract][Full Text] [Related]
18. Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.
Chang YH; Kang EY; Liu L; Jenny LA; Khang R; Seo GH; Lee H; Chen KJ; Wu WC; Hsiao MC; Wang NK
Orphanet J Rare Dis; 2023 May; 18(1):131. PubMed ID: 37259171
[TBL] [Abstract][Full Text] [Related]
19. The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism.
Brewer CJ; Gillespie M; Fierro J; Scaringe WA; Li JM; Lee CY; Yen HY; Gao H; Strom SP
J Mol Diagn; 2020 May; 22(5):670-678. PubMed ID: 32092540
[TBL] [Abstract][Full Text] [Related]
20. [Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].
Tang J; Ling J; Zhang C; Hao S; Ma J; Li J; Zhao L; Wang Y; Hui L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):680-685. PubMed ID: 37212002
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
