222 related articles for article (PubMed ID: 36068917)
1. Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Cornthwaite M; Turner K; Armstrong L; Boerkoel CF; Chang C; Lehman A; Nikkel SM; Patel MS; Van Allen M; Langlois S
Prenat Diagn; 2022 Nov; 42(12):1514-1524. PubMed ID: 36068917
[TBL] [Abstract][Full Text] [Related]
2. The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Diderich KEM; Klapwijk JE; van der Schoot V; van den Born M; Wilke M; Joosten M; Stuurman KE; Hoefsloot LH; Van Opstal D; Brüggenwirth HT; Srebniak MI
Eur J Med Genet; 2023 Oct; 66(10):104844. PubMed ID: 37709011
[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. Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.
Norton ME; Ziffle JV; Lianoglou BR; Hodoglugil U; Devine WP; Sparks TN
Am J Obstet Gynecol; 2022 Jan; 226(1):128.e1-128.e11. PubMed ID: 34331894
[TBL] [Abstract][Full Text] [Related]
5. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski S; Aggarwal V; Giordano JL; Stosic M; Wou K; Bier L; Spiegel E; Brennan K; Stong N; Jobanputra V; Ren Z; Zhu X; Mebane C; Nahum O; Wang Q; Kamalakaran S; Malone C; Anyane-Yeboa K; Miller R; Levy B; Goldstein DB; Wapner RJ
Lancet; 2019 Feb; 393(10173):758-767. PubMed ID: 30712878
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
Becher N; Andreasen L; Sandager P; Lou S; Petersen OB; Christensen R; Vogel I
Acta Obstet Gynecol Scand; 2020 Jun; 99(6):783-790. PubMed ID: 32304219
[TBL] [Abstract][Full Text] [Related]
8. Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Mørup SB; Nazaryan-Petersen L; Gabrielaite M; Reekie J; Marquart HV; Hartling HJ; Marvig RL; Katzenstein TL; Masmas TN; Lundgren J; Murray DD; Helleberg M; Borgwardt L
Front Immunol; 2022; 13():906328. PubMed ID: 35874679
[TBL] [Abstract][Full Text] [Related]
9. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
[TBL] [Abstract][Full Text] [Related]
10. Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example.
Micke KC; Elfman HM; Fantauzzo KA; McGrath PS; Clouthier DE; McCandless SE; Larson A; Putra M; Cuneo BF; Reynolds RM; Zaretsky MV
Prenat Diagn; 2023 Apr; 43(4):544-552. PubMed ID: 36759743
[TBL] [Abstract][Full Text] [Related]
11. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Snoeijen-Schouwenaars FM; van Ool JS; Verhoeven JS; van Mierlo P; Braakman HMH; Smeets EE; Nicolai J; Schoots J; Teunissen MWA; Rouhl RPW; Tan IY; Yntema HG; Brunner HG; Pfundt R; Stegmann AP; Kamsteeg EJ; Schelhaas HJ; Willemsen MH
Epilepsia; 2019 Jan; 60(1):155-164. PubMed ID: 30525188
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Importance of complete phenotyping in prenatal whole exome sequencing.
Aarabi M; Sniezek O; Jiang H; Saller DN; Bellissimo D; Yatsenko SA; Rajkovic A
Hum Genet; 2018 Feb; 137(2):175-181. PubMed ID: 29392406
[TBL] [Abstract][Full Text] [Related]
14. [Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies].
Application Collaboration Group Of Whole Exome Sequencing In Prenatal Diagnosis ; Lou G; Hou Q; Yang K; Guo L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May; 39(5):457-463. PubMed ID: 35598257
[TBL] [Abstract][Full Text] [Related]
15. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
16. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
Fu F; Li R; Li Y; Nie ZQ; Lei T; Wang D; Yang X; Han J; Pan M; Zhen L; Ou Y; Li J; Li FT; Jing X; Li D; Liao C
Ultrasound Obstet Gynecol; 2018 Apr; 51(4):493-502. PubMed ID: 28976722
[TBL] [Abstract][Full Text] [Related]
17. Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies.
Lei L; Zhou L; Xiong JJ
Eur J Med Genet; 2021 Sep; 64(9):104288. PubMed ID: 34246755
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Dillon OJ; Lunke S; Stark Z; Yeung A; Thorne N; ; Gaff C; White SM; Tan TY
Eur J Hum Genet; 2018 May; 26(5):644-651. PubMed ID: 29453417
[TBL] [Abstract][Full Text] [Related]
19. The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Chin HL; Gazzaz N; Huynh S; Handra I; Warnock L; Moller-Hansen A; Boerkoel P; Jacobsen JOB; du Souich C; Zhang N; Shefchek K; Prentice LM; Washington N; Haendel M; Armstrong L; Clarke L; Li WL; Smedley D; Robinson PN; Boerkoel CF
Genet Med; 2022 Jul; 24(7):1512-1522. PubMed ID: 35442193
[TBL] [Abstract][Full Text] [Related]
20. Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations.
Shi JW; Cao H; Hong L; Ma J; Cui L; Zhang Y; Song X; Liu J; Yang Y; Lv Q; Zhang L; Wang J; Xie M
Prenat Diagn; 2022 Jun; 42(7):852-861. PubMed ID: 35420166
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
