461 related articles for article (PubMed ID: 29595812)
1. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N; Best S; Hayward J; Faravelli F; Mansour S; Kivuva E; Tapon D; Male A; DeVile C; Chitty LS
Genet Med; 2018 Nov; 20(11):1430-1437. PubMed ID: 29595812
[TBL] [Abstract][Full Text] [Related]
2. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
Han J; Yang YD; He Y; Liu WJ; Zhen L; Pan M; Yang X; Zhang VW; Liao C; Li DZ
Prenat Diagn; 2020 Apr; 40(5):577-584. PubMed ID: 31994750
[TBL] [Abstract][Full Text] [Related]
3. Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
Zhu X; Gao Z; Wang Y; Huang W; Li Q; Jiao Z; Liu N; Kong X
Ultrasound Obstet Gynecol; 2022 Dec; 60(6):780-792. PubMed ID: 35726512
[TBL] [Abstract][Full Text] [Related]
4. Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
Ferretti L; Mellis R; Chitty LS
Eur J Med Genet; 2019 Aug; 62(8):103663. PubMed ID: 31085342
[TBL] [Abstract][Full Text] [Related]
5. Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F; Li R; Yu Q; Wang D; Deng Q; Li L; Lei T; Chen G; Nie Z; Yang X; Han J; Pan M; Zhen L; Zhang Y; Jing X; Li F; Li F; Zhang L; Yi C; Li Y; Lu Y; Zhou H; Cheng K; Li J; Xiang L; Zhang J; Tang S; Fang P; Li D; Liao C
Genome Med; 2022 Oct; 14(1):123. PubMed ID: 36307859
[TBL] [Abstract][Full Text] [Related]
6. Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review.
Tse KY; Surya IU; Irwinda R; Leung KY; Ting YH; Cao Y; Choy KW
Genes (Basel); 2023 May; 14(6):. PubMed ID: 37372383
[TBL] [Abstract][Full Text] [Related]
7. Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.
Wang L; Li R; Zhai J; Zhang B; Wu J; Pang L; Liu Y
Medicine (Baltimore); 2022 Oct; 101(43):e31321. PubMed ID: 36316869
[TBL] [Abstract][Full Text] [Related]
8. From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
de Koning MA; Haak MC; Adama van Scheltema PN; Peeters-Scholte CMPCD; Koopmann TT; Nibbeling EAR; Aten E; den Hollander NS; Ruivenkamp CAL; Hoffer MJV; Santen GWE
Genet Med; 2019 Oct; 21(10):2303-2310. PubMed ID: 30918357
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China.
Tang J; Zhou C; Shi H; Mo Y; Tan W; Sun T; Zhu J; Li Q; Li H; Li Y; Wang S; Hong Y; Li N; Zeng Q; Tan J; Ma W; Luo L
Clin Chim Acta; 2020 Aug; 507():187-193. PubMed ID: 32360156
[TBL] [Abstract][Full Text] [Related]
10. Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system.
Yang Y; Wang M; Wang H
Mol Genet Genomics; 2022 Jul; 297(4):1017-1026. PubMed ID: 35583673
[TBL] [Abstract][Full Text] [Related]
11. Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.
Mone F; Abu Subieh H; Doyle S; Hamilton S; Mcmullan DJ; Allen S; Marton T; Williams D; Kilby MD
Ultrasound Obstet Gynecol; 2022 Jun; 59(6):723-730. PubMed ID: 34940998
[TBL] [Abstract][Full Text] [Related]
12. An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL; Gilmore K; Brandt A; Gustafson C; Strande N; Ramkissoon L; Hardisty E; Foreman AKM; Wilhelmsen K; Owen P; Weck KE; Berg JS; Powell CM; Powell BC
Genet Med; 2020 May; 22(5):954-961. PubMed ID: 31974414
[TBL] [Abstract][Full Text] [Related]
13. Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.
Plantinga M; Zwienenberg L; van Dijk E; Breet H; Diphoorn J; El Mecky J; Bouman K; Verheij J; Birnie E; Ranchor AV; Corsten-Janssen N; van Langen IM
Prenat Diagn; 2022 May; 42(6):762-774. PubMed ID: 34643287
[TBL] [Abstract][Full Text] [Related]
14. Prenatal exome sequencing and impact on perinatal outcome: cohort study.
Poljak B; Agarwal U; Alfirevic Z; Allen S; Canham N; Higgs J; Kaelin Agten A; Khalil A; Roberts D; Mone F; Navaratnam K
Ultrasound Obstet Gynecol; 2023 Mar; 61(3):339-345. PubMed ID: 36508432
[TBL] [Abstract][Full Text] [Related]
15. Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.
Zhang L; Pan L; Teng Y; Liang D; Li Z; Wu L
Clin Genet; 2021 Aug; 100(2):219-226. PubMed ID: 33942288
[TBL] [Abstract][Full Text] [Related]
16. A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A; Hoopmann M; Waldmüller S; Prodan NC; Beck-Wödl S; Grasshoff U; Heinrich T; Riess A; Kehrer M; Falb RJ; Liebmann A; Roggia C; Stampfer M; Schadeck M; Müller AJ; Grimmel M; Stöbe P; Gauck D; Buchert-Lo R; Baumann S; Schäferhoff K; Bertrand M; Menden B; Sturm M; Schütz L; Riess O; Ossowski S; Haack TB; Kagan KO
Prenat Diagn; 2022 Jun; 42(7):901-910. PubMed ID: 35574990
[TBL] [Abstract][Full Text] [Related]
17. Fetal exome sequencing: yield and limitations in a tertiary referral center.
Daum H; Meiner V; Elpeleg O; Harel T;
Ultrasound Obstet Gynecol; 2019 Jan; 53(1):80-86. PubMed ID: 29947050
[TBL] [Abstract][Full Text] [Related]
18. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones E; Lord J; Williams D; Hamilton S; Marton T; Eberhardt RY; Rinck G; Prigmore E; Keelagher R; McMullan DJ; Maher ER; Hurles ME; Kilby MD
Genet Med; 2019 May; 21(5):1065-1073. PubMed ID: 30293990
[TBL] [Abstract][Full Text] [Related]
19. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C; Neveling K; Zafeiropopoulou D; Gilissen C; Pfundt R; Rinne T; de Leeuw N; Faas B; Gardeitchik T; Sallevelt SCEH; Paulussen A; Stevens SJC; Sikkel E; Elting MW; van Maarle MC; Diderich KEM; Corsten-Janssen N; Lichtenbelt KD; Lachmeijer G; Vissers LELM; Yntema HG; Nelen M; Feenstra I; van Zelst-Stams WAG
Prenat Diagn; 2020 Jul; 40(8):972-983. PubMed ID: 32333414
[TBL] [Abstract][Full Text] [Related]
20. A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review.
Dempsey E; Haworth A; Ive L; Dubis R; Savage H; Serra E; Kenny J; Elmslie F; Greco E; Thilaganathan B; Mansour S; Homfray T; Drury S
BJOG; 2021 May; 128(6):1012-1019. PubMed ID: 32981126
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
