351 related articles for article (PubMed ID: 34246755)
41. An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Ellard S; Kivuva E; Turnpenny P; Stals K; Johnson M; Xie W; Caswell R; Lango Allen H
Eur J Hum Genet; 2015 Mar; 23(3):401-4. PubMed ID: 24961629
[TBL] [Abstract][Full Text] [Related]
42. Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.
Janicki E; De Rademaeker M; Meunier C; Boeckx N; Blaumeiser B; Janssens K
Diagnostics (Basel); 2023 Feb; 13(5):. PubMed ID: 36900003
[TBL] [Abstract][Full Text] [Related]
43. 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]
44. Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.
Xue H; Yu A; Zhang L; Chen L; Guo Q; Lin M; Lin N; Chen X; Xu L; Huang H
Sci Rep; 2024 Jan; 14(1):2190. PubMed ID: 38273042
[TBL] [Abstract][Full Text] [Related]
45. 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]
46. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Vora NL; Powell B; Brandt A; Strande N; Hardisty E; Gilmore K; Foreman AKM; Wilhelmsen K; Bizon C; Reilly J; Owen P; Powell CM; Skinner D; Rini C; Lyerly AD; Boggess KA; Weck K; Berg JS; Evans JP
Genet Med; 2017 Nov; 19(11):1207-1216. PubMed ID: 28518170
[TBL] [Abstract][Full Text] [Related]
47. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL; Wakeling M; Baptista J; Caswell R; Parrish A; Rankin J; Tysoe C; Jones G; Gunning AC; Lango Allen H; Bradley L; Brady AF; Carley H; Carmichael J; Castle B; Cilliers D; Cox H; Deshpande C; Dixit A; Eason J; Elmslie F; Fry AE; Fryer A; Holder M; Homfray T; Kivuva E; McKay V; Newbury-Ecob R; Parker M; Savarirayan R; Searle C; Shannon N; Shears D; Smithson S; Thomas E; Turnpenny PD; Varghese V; Vasudevan P; Wakeling E; Baple EL; Ellard S
Prenat Diagn; 2018 Jan; 38(1):33-43. PubMed ID: 29096039
[TBL] [Abstract][Full Text] [Related]
48. Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec M; Gerykova Bujalkova M; Lehner R; Neesen J; Behunova J; Yerlikaya-Schatten G; Reischer T; Altmann R; Weis D; Duba HC; Laccone F
Eur J Hum Genet; 2022 Apr; 30(4):428-438. PubMed ID: 34974531
[TBL] [Abstract][Full Text] [Related]
49. Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.
Felice V; Abhyankar A; Jobanputra V
Methods Mol Biol; 2019; 1885():267-285. PubMed ID: 30506204
[TBL] [Abstract][Full Text] [Related]
50. Prenatal exome sequencing in fetuses with congenital heart defects.
Li R; Fu F; Yu Q; Wang D; Jing X; Zhang Y; Li F; Li F; Han J; Pan M; Zhen L; Li D; Liao C
Clin Genet; 2020 Sep; 98(3):215-230. PubMed ID: 32410215
[TBL] [Abstract][Full Text] [Related]
51. [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; 35(6):856-859. PubMed ID: 30512163
[TBL] [Abstract][Full Text] [Related]
52. Pathologic whole exome sequencing analysis in fetuses with minor sonographic abnormal findings and normal chromosomal microarray analysis: case series.
Achiron R; Kassif E; Shohat M; Kivilevitch Z
J Matern Fetal Neonatal Med; 2022 Dec; 35(25):9730-9735. PubMed ID: 35282760
[TBL] [Abstract][Full Text] [Related]
53. Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Miceikaite I; Fagerberg C; Brasch-Andersen C; Torring PM; Kristiansen BS; Hao Q; Sperling L; Ibsen MH; Löser K; Bendsen EA; Ousager LB; Larsen MJ
Prenat Diagn; 2023 Aug; 43(9):1132-1141. PubMed ID: 37355983
[TBL] [Abstract][Full Text] [Related]
54. 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]
55. Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting.
Sun H; Yi T; Hao X; Yan H; Wang J; Li Q; Gu X; Zhou X; Wang S; Wang X; Wan P; Han L; Chen J; Zhu H; Zhang H; He Y
Ultrasound Obstet Gynecol; 2020 Aug; 56(2):225-232. PubMed ID: 31633846
[TBL] [Abstract][Full Text] [Related]
56. 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]
57. 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]
58. Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies.
Chen M; Chen J; Wang C; Chen F; Xie Y; Li Y; Li N; Wang J; Zhang VW; Chen D
Eur J Obstet Gynecol Reprod Biol; 2020 Aug; 251():119-124. PubMed ID: 32502767
[TBL] [Abstract][Full Text] [Related]
59. 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]
60. [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]
[Previous] [Next] [New Search]
