263 related articles for article (PubMed ID: 31680349)
1. Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations.
Guo W; Lai Y; Yan Z; Wang Y; Nie Y; Guan S; Kuo Y; Zhang W; Zhu X; Peng M; Zhi X; Wei Y; Yan L; Qiao J
Hum Mutat; 2020 Feb; 41(2):432-448. PubMed ID: 31680349
[TBL] [Abstract][Full Text] [Related]
2. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J; McMullan DJ; Eberhardt RY; Rinck G; Hamilton SJ; Quinlan-Jones E; Prigmore E; Keelagher R; Best SK; Carey GK; Mellis R; Robart S; Berry IR; Chandler KE; Cilliers D; Cresswell L; Edwards SL; Gardiner C; Henderson A; Holden ST; Homfray T; Lester T; Lewis RA; Newbury-Ecob R; Prescott K; Quarrell OW; Ramsden SC; Roberts E; Tapon D; Tooley MJ; Vasudevan PC; Weber AP; Wellesley DG; Westwood P; White H; Parker M; Williams D; Jenkins L; Scott RH; Kilby MD; Chitty LS; Hurles ME; Maher ER;
Lancet; 2019 Feb; 393(10173):747-757. PubMed ID: 30712880
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Whole-genome sequencing analysis in fetal structural anomalies: novel phenotype-genotype discoveries.
Qi Q; Jiang Y; Zhou X; Lü Y; Xiao R; Bai J; Lou H; Sun W; Lian Y; Hao N; Li M; Chang J
Ultrasound Obstet Gynecol; 2024 May; 63(5):664-671. PubMed ID: 37842862
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation.
Guo W; Nie Y; Yan Z; Zhu X; Wang Y; Guan S; Kuo Y; Zhang W; Zhi X; Wei Y; Yan L; Qiao J
Sci China Life Sci; 2019 Jul; 62(7):886-894. PubMed ID: 31152388
[TBL] [Abstract][Full Text] [Related]
8. Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Qin Y; Yao Y; Liu N; Wang B; Liu L; Li H; Gao T; Xu R; Wang X; Zhang F; Song J
BMC Med Genomics; 2023 Oct; 16(1):262. PubMed ID: 37880672
[TBL] [Abstract][Full Text] [Related]
9. [Study of genetic etiology in fetuses with severely short limbs in the first and second trimester using whole exome sequencing].
Zhang XY; You YQ; Zhou HH; Wang SJ; Xie XX; Zhang ML; Wang LX; Lu YP
Zhonghua Fu Chan Ke Za Zhi; 2019 Apr; 54(4):221-225. PubMed ID: 31006186
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Boissel S; Fallet-Bianco C; Chitayat D; Kremer V; Nassif C; Rypens F; Delrue MA; Dal Soglio D; Oligny LL; Patey N; Flori E; Cloutier M; Dyment D; Campeau P; Karalis A; Nizard S; Fraser WD; Audibert F; Lemyre E; Rouleau GA; Hamdan FF; Kibar Z; Michaud JL
Genet Med; 2018 Jul; 20(7):745-753. PubMed ID: 29261186
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
Aoi H; Mizuguchi T; Suzuki T; Makino S; Yamamoto Y; Takeda J; Maruyama Y; Seyama R; Takeuchi S; Uchiyama Y; Azuma Y; Hamanaka K; Fujita A; Koshimizu E; Miyatake S; Mitsuhashi S; Takata A; Miyake N; Takeda S; Itakura A; Matsumoto N
J Hum Genet; 2021 May; 66(5):499-507. PubMed ID: 33144663
[TBL] [Abstract][Full Text] [Related]
15. The present and future of whole-exome sequencing in studying and treating human reproductive disorders.
Guo W; Zhu X; Yan L; Qiao J
J Genet Genomics; 2018 Oct; 45(10):517-525. PubMed ID: 30391409
[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. [Analysis of families with fetal congenital abnormalities but negative prenatal diagnosis by whole exome sequencing].
Fu F; Li LS; Du K; Li R; Yu QX; Wang D; Lei TY; Deng Q; Nie ZQ; Zhang WW; Yang X; Han J; Zhen L; Pan M; Zhang LN; Li FC; Zhang YL; Jing XY; Li DZ; Liao C
Zhonghua Fu Chan Ke Za Zhi; 2021 Jul; 56(7):458-466. PubMed ID: 34304437
[No Abstract] [Full Text] [Related]
18. Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis.
Miao H; Zhou J; Yang Q; Liang F; Wang D; Ma N; Gao B; Du J; Lin G; Wang K; Zhang Q
Hereditas; 2018; 155():32. PubMed ID: 30279644
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]