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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 34952236)

  • 1. Challenges in variant interpretation in prenatal exome sequencing.
    Basel-Salmon L; Sukenik-Halevy R
    Eur J Med Genet; 2022 Feb; 65(2):104410. PubMed ID: 34952236
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
    Kucińska-Chahwan A; Geremek M; Roszkowski T; Bijok J; Massalska D; Ciebiera M; Correia H; Pereira-Caetano I; Barreta A; Obersztyn E; Kutkowska-Kaźmierczak A; Własienko P; Krajewska-Walasek M; Węgrzyn P; Dudarewicz L; Krzeszowski W; Rybak-Krzyszkowska M; Nowakowska B
    Genes (Basel); 2022 Apr; 13(5):. PubMed ID: 35627109
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
    Bourgon N; Garde A; Bruel AL; Lefebvre M; Mau-Them FT; Moutton S; Sorlin A; Nambot S; Delanne J; Chevarin M; Pöe C; Thevenon J; Lehalle D; Jean-Marçais N; Kuentz P; Lambert L; El Chehadeh S; Schaefer E; Willems M; Laffargue F; Francannet C; Fradin M; Gaillard D; Blesson S; Goldenberg A; Capri Y; Sagot P; Rousseau T; Simon E; Binquet C; Ascencio ML; Duffourd Y; Philippe C; Faivre L; Vitobello A; Thauvin-Robinet C
    Eur J Hum Genet; 2022 Aug; 30(8):967-975. PubMed ID: 35577939
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting.
    Sukenik-Halevy R; Ruhrman-Shahar N; Orenstein N; Gonzaga-Jauregui C; Shuldiner AR; Magal N; Hagari O; Azulay N; Lidzbarsky GA; Bazak L; Basel-Salmon L
    Prenat Diagn; 2021 May; 41(6):701-707. PubMed ID: 33686681
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta-analysis.
    Pauta M; Martinez-Portilla RJ; Borrell A
    Ultrasound Obstet Gynecol; 2022 Jun; 59(6):715-722. PubMed ID: 35041238
    [TBL] [Abstract][Full Text] [Related]  

  • 15. COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.
    Mone F; Eberhardt RY; Morris RK; Hurles ME; McMullan DJ; Maher ER; Lord J; Chitty LS; Giordano JL; Wapner RJ; Kilby MD;
    Ultrasound Obstet Gynecol; 2021 Jan; 57(1):43-51. PubMed ID: 32388881
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
    Al-Hamed MH; Kurdi W; Khan R; Tulbah M; AlNemer M; AlSahan N; AlMugbel M; Rafiullah R; Assoum M; Monies D; Shah Z; Rahbeeni Z; Derar N; Hakami F; Almutairi G; AlOtaibi A; Ali W; AlShammasi A; AlMubarak W; AlDawoud S; AlAmri S; Saeed B; Bukhari H; Ali M; Akili R; Alquayt L; Hagos S; Elbardisy H; Akilan A; Almuhana N; AlKhalifah A; Abouelhoda M; Ramzan K; Sayer JA; Imtiaz F
    Hum Genet; 2022 Jan; 141(1):101-126. PubMed ID: 34853893
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021.
    Mone F; McMullan DJ; Williams D; Chitty LS; Maher ER; Kilby MD; ;
    BJOG; 2021 Aug; 128(9):e39-e50. PubMed ID: 33590639
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.