136 related articles for article (PubMed ID: 37991863)
1. Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.
Miceikaitė I; Hao Q; Brasch-Andersen C; Fagerberg CR; Torring PM; Kristiansen BS; Ousager LB; Sperling L; Ibsen MH; Löser K; Larsen MJ
N Engl J Med; 2023 Nov; 389(21):2017-2019. PubMed ID: 37991863
[No Abstract] [Full Text] [Related]
2. High-Resolution and Noninvasive Fetal Exome Screening.
Brand H; Whelan CW; Duyzend M; Lemanski J; Salani M; Hao SP; Wong I; Valkanas E; Cusick C; Genetti C; Dobson L; Studwell C; Gianforcaro K; Wilkins-Haug L; Guseh S; Currall B; Gray K; Talkowski ME
N Engl J Med; 2023 Nov; 389(21):2014-2016. PubMed ID: 37991862
[No Abstract] [Full Text] [Related]
3. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Diderich KEM; Romijn K; Joosten M; Govaerts LCP; Polak M; Bruggenwirth HT; Wilke M; van Slegtenhorst MA; van Bever Y; Brooks AS; Mancini GMS; van de Laar IMBH; Kromosoeto JNR; Knapen MFCM; Go ATJI; Van Opstal D; Hoefsloot LH; Galjaard RH; Srebniak MI
Acta Obstet Gynecol Scand; 2021 Jun; 100(6):1106-1115. PubMed ID: 33249554
[TBL] [Abstract][Full Text] [Related]
4. Whole Exome Sequencing: Applications in Prenatal Genetics.
Jelin AC; Vora N
Obstet Gynecol Clin North Am; 2018 Mar; 45(1):69-81. PubMed ID: 29428287
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Yates CL; Monaghan KG; Copenheaver D; Retterer K; Scuffins J; Kucera CR; Friedman B; Richard G; Juusola J
Genet Med; 2017 Oct; 19(10):1171-1178. PubMed ID: 28425981
[TBL] [Abstract][Full Text] [Related]
10. Trio exome sequencing is highly relevant in prenatal diagnostics.
Gabriel H; Korinth D; Ritthaler M; Schulte B; Battke F; von Kaisenberg C; Wüstemann M; Schulze B; Friedrich-Freksa A; Pfeiffer L; Entezami M; Schröer A; Bürger J; Schwaibold EMC; Lebek H; Biskup S
Prenat Diagn; 2022 Jun; 42(7):845-851. PubMed ID: 34958143
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N; Bouman K; Diphoorn JCD; Scheper AJ; Kinds R; El Mecky J; Breet H; Verheij JBGM; Suijkerbuijk R; Duin LK; Manten GTR; van Langen IM; Sijmons RH; Sikkema-Raddatz B; Westers H; van Diemen CC
Prenat Diagn; 2020 Sep; 40(10):1300-1309. PubMed ID: 32627857
[TBL] [Abstract][Full Text] [Related]
13. Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.
Filer DL; Mieczkowski PA; Brandt A; Gilmore KL; Powell BC; Berg JS; Wilhelmsen KC; Vora NL
Prenat Diagn; 2022 May; 42(5):567-573. PubMed ID: 34265090
[TBL] [Abstract][Full Text] [Related]
14. Fetal central nervous system anomalies: When should we offer exome sequencing?
Baptiste C; Mellis R; Aggarwal V; Lord J; Eberhardt R; Kilby MD; Maher ER; Wapner R; Giordano J; Chitty L
Prenat Diagn; 2022 May; 42(6):736-743. PubMed ID: 35411553
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.
Rinaldi B; Cesaretti C; Boito S; Villa R; Guerneri S; Borzani I; Rizzuti T; Marchetti D; Conte G; Cinnante C; Triulzi F; Persico N; Iascone M; Natacci F
Prenat Diagn; 2022 Jun; 42(7):927-933. PubMed ID: 35584264
[TBL] [Abstract][Full Text] [Related]
17. Lessons learnt from prenatal exome sequencing.
Chandler NJ; Scotchman E; Mellis R; Ramachandran V; Roberts R; Chitty LS
Prenat Diagn; 2022 Jun; 42(7):831-844. PubMed ID: 35506549
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. From sub-microscopic variants to the resolution of a single base pair: Exome sequencing in prenatal diagnosis.
He P; Xu LL; Li DZ
Eur J Med Genet; 2020 Apr; 63(4):103779. PubMed ID: 31586466
[No Abstract] [Full Text] [Related]
20. Prenatal exome sequencing: A useful tool for the fetal neurologist.
de Koning MA; Hoffer MJV; Nibbeling EAR; Bijlsma EK; Toirkens MJP; Adama-Scheltema PN; Verweij EJ; Veenhof MB; Santen GWE; Peeters-Scholte CMPCD
Clin Genet; 2022 Jan; 101(1):65-77. PubMed ID: 34611884
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]