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Items: 1 to 20 of 108

1.

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).

Leung GKC, Mak CCY, Fung JLF, Wong WHS, Tsang MHY, Yu MHC, Pei SLC, Yeung KS, Mok GTK, Lee CP, Hui APW, Tang MHY, Chan KYK, Liu APY, Yang W, Sham PC, Kan ASY, Chung BHY.

BMC Med Genomics. 2018 Oct 25;11(1):93. doi: 10.1186/s12920-018-0409-z.

2.

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 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31.

PMID:
30712878
3.

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; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.

4.

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. doi: 10.1007/s00439-017-1860-1. Epub 2018 Feb 1.

PMID:
29392406
5.

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. doi: 10.1002/uog.18915.

6.

Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.

Yadava SM, Ashkinadze E.

J Genet Couns. 2019 Apr;28(2):251-255. doi: 10.1002/jgc4.1045. Epub 2018 Dec 12.

PMID:
30629328
7.

Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.

Lei TY, Fu F, Li R, Wang D, Wang RY, Jing XY, Deng Q, Li ZZ, Liu ZQ, Yang X, Li DZ, Liao C.

Nephrol Dial Transplant. 2017 Oct 1;32(10):1665-1675. doi: 10.1093/ndt/gfx031.

PMID:
28387813
8.

Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.

Felice V, Abhyankar A, Jobanputra V.

Methods Mol Biol. 2019;1885:267-285. doi: 10.1007/978-1-4939-8889-1_18.

PMID:
30506204
9.

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzène T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF.

Hum Reprod. 2016 Dec;31(12):2872-2880. Epub 2016 Oct 26.

PMID:
27798045
10.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.

JAMA Neurol. 2015 Dec;72(12):1424-32. doi: 10.1001/jamaneurol.2015.2274.

PMID:
26436962
11.
12.

[Analysis of 26 fetuses with congenital anomalies of the kidney and urinary tract by whole exome sequencing].

Lei T, Fu F, Li R, Wang D, Yang D, Wang F, Yang X, Pan M, Zhen L, Han J, Li D, Liao C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Dec 10;35(6):856-859. doi: 10.3760/cma.j.issn.1003-9406.2018.06.019. Chinese.

PMID:
30512163
13.

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. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.

PMID:
28425981
14.

Promises, pitfalls and practicalities of prenatal whole exome sequencing.

Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS.

Prenat Diagn. 2018 Jan;38(1):10-19. doi: 10.1002/pd.5102. Epub 2017 Jul 25. Review.

15.

Evaluation of prenatally diagnosed structural congenital anomalies.

Gagnon A; GENETICS COMMITTEE.

J Obstet Gynaecol Can. 2009 Sep;31(9):875-881. doi: 10.1016/S1701-2163(16)34307-9. Review. English, French.

PMID:
19941713
16.

Whole exome sequencing in recurrent early pregnancy loss.

Qiao Y, Wen J, Tang F, Martell S, Shomer N, Leung PC, Stephenson MD, Rajcan-Separovic E.

Mol Hum Reprod. 2016 May;22(5):364-72. doi: 10.1093/molehr/gaw008. Epub 2016 Jan 28.

17.

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

Fu C, Luo S, Zhang Y, Fan X, D'Gama AM, Zhang X, Zheng H, Su J, Li C, Luo J, Agrawal PB, Li Q, Chen S.

Clin Chim Acta. 2019 Feb;489:103-108. doi: 10.1016/j.cca.2018.11.035. Epub 2018 Nov 30.

PMID:
30508507
18.

Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly.

Quinlan-Jones E, Hillman SC, Kilby MD, Greenfield SM.

Prenat Diagn. 2017 Dec;37(12):1225-1231. doi: 10.1002/pd.5172. Epub 2017 Nov 10.

PMID:
29049852
19.

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Xu S, Fan Y, Sun Y, Wang L, Gu X, Yu Y.

BMC Med Genomics. 2017 Oct 30;10(1):62. doi: 10.1186/s12920-017-0298-6.

20.

Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.

Liu W, Zhang H, Wang J, Yu G, Qiu W, Li Z, Chen M, Choy KW, Sun X.

Mol Cytogenet. 2015 Nov 4;8:85. doi: 10.1186/s13039-015-0190-z. eCollection 2015.

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