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For: Westerfield LE, Stover SR, Mathur VS, Nassef SA, Carter TG, Yang Y, Eng CM, Van den Veyver IB. Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn 2015;35:1022-9. [PMID: 26275793 DOI: 10.1002/pd.4674] [Cited by in Crossref: 37] [Cited by in F6Publishing: 29] [Article Influence: 5.3] [Reference Citation Analysis]
Number Citing Articles
1 Westerfield LE, Braxton AA, Walkiewicz M. Prenatal Diagnostic Exome Sequencing: a Review. Curr Genet Med Rep 2017;5:75-83. [DOI: 10.1007/s40142-017-0120-y] [Cited by in Crossref: 3] [Article Influence: 0.6] [Reference Citation Analysis]
2 Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, Wang X, Xiao R, Liu P, Bi W, Xia F, Walkiewicz M, Van den Veyver IB, Eng CM, Yang Y. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med 2018;10:74. [PMID: 30266093 DOI: 10.1186/s13073-018-0582-x] [Cited by in Crossref: 50] [Cited by in F6Publishing: 42] [Article Influence: 12.5] [Reference Citation Analysis]
3 Pangalos C, Hagnefelt B, Lilakos K, Konialis C. First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. PeerJ 2016;4:e1955. [PMID: 27168972 DOI: 10.7717/peerj.1955] [Cited by in Crossref: 45] [Cited by in F6Publishing: 34] [Article Influence: 7.5] [Reference Citation Analysis]
4 Narravula A, Garber KB, Askree SH, Hegde M, Hall PL. Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. Genet Med 2017;19:77-82. [DOI: 10.1038/gim.2016.67] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 3.3] [Reference Citation Analysis]
5 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. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genet Med 2018;20:745-53. [PMID: 29261186 DOI: 10.1038/gim.2017.173] [Cited by in Crossref: 34] [Cited by in F6Publishing: 26] [Article Influence: 6.8] [Reference Citation Analysis]
6 Dragojlovic N, Kopac N, Borle K, Tandun R, Salmasi S, Ellis U, Birch P, Adam S, Friedman JM, Elliott AM, Lynd LD; GenCOUNSEL Study. Utilization and uptake of clinical genetics services in high-income countries: A scoping review. Health Policy 2021;125:877-87. [PMID: 33962789 DOI: 10.1016/j.healthpol.2021.04.010] [Reference Citation Analysis]
7 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. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn 2018;38:33-43. [PMID: 29096039 DOI: 10.1002/pd.5175] [Cited by in Crossref: 40] [Cited by in F6Publishing: 31] [Article Influence: 8.0] [Reference Citation Analysis]
8 Berkenstadt M, Pode‐shakked B, Barel O, Barash H, Achiron R, Gilboa Y, Kidron D, Raas‐rothschild A. LMOD3 ‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings. J Ultrasound Med 2018;37:1827-33. [DOI: 10.1002/jum.14520] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
9 Narayanan S, Blumberg B, Clayman ML, Pan V, Wicklund C. Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting. J Genet Counsel 2018;27:1228-37. [DOI: 10.1007/s10897-018-0245-5] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.8] [Reference Citation Analysis]
10 Chitty LS, Friedman JM, Langlois S. Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? Prenat Diagn 2016;36:15-9. [PMID: 26525746 DOI: 10.1002/pd.4718] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 1.9] [Reference Citation Analysis]
11 Yates CL, Monaghan KG, Copenheaver D, Retterer K, Scuffins J, Kucera CR, Friedman B, Richard G, Juusola J. Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. Genet Med. 2017;19:1171-1178. [PMID: 28425981 DOI: 10.1038/gim.2017.31] [Cited by in Crossref: 65] [Cited by in F6Publishing: 56] [Article Influence: 13.0] [Reference Citation Analysis]
12 Tolusso LK, Hazelton P, Wong B, Swarr DT. Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes. Genet Med 2021;23:909-17. [PMID: 33442022 DOI: 10.1038/s41436-020-01067-9] [Reference Citation Analysis]
13 Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, Devile C, Chitty LS. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. Genet Med 2018;20:1430-7. [DOI: 10.1038/gim.2018.30] [Cited by in Crossref: 60] [Cited by in F6Publishing: 55] [Article Influence: 15.0] [Reference Citation Analysis]
14 Pratt M, Garritty C, Thuku M, Esmaeilisaraji L, Hamel C, Hartley T, Millar K, Skidmore B, Dougan S, Armour CM. Application of exome sequencing for prenatal diagnosis: a rapid scoping review. Genet Med 2020;22:1925-34. [PMID: 32747765 DOI: 10.1038/s41436-020-0918-y] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
15 Lamont RE, Xi Y, Popko C, Lazier J, Bernier FP, Lauzon JL, Innes AM, Parboosingh JS, Thomas MA. Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies. J Obstet Gynaecol Can 2018;40:1417-23. [PMID: 30473118 DOI: 10.1016/j.jogc.2018.02.002] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
16 Guadagnolo D, Mastromoro G, Di Palma F, Pizzuti A, Marchionni E. Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review. Diagnostics (Basel) 2021;11:224. [PMID: 33540854 DOI: 10.3390/diagnostics11020224] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
17 Chitty LS, Bianchi DW. Next generation sequencing and the next generation: how genomics is revolutionizing reproduction. Prenat Diagn 2015;35:929-30. [PMID: 26443108 DOI: 10.1002/pd.4679] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.6] [Reference Citation Analysis]
18 Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. Biomed Res Int 2018;2018:4032543. [PMID: 30581852 DOI: 10.1155/2018/4032543] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
19 Mastromoro G, Guadagnolo D, Khaleghi Hashemian N, Marchionni E, Traversa A, Pizzuti A. Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis. Diagnostics 2022;12:575. [DOI: 10.3390/diagnostics12030575] [Reference Citation Analysis]
20 Krstić N, Običan SG. Current landscape of prenatal genetic screening and testing. Birth Defects Res 2020;112:321-31. [PMID: 31633301 DOI: 10.1002/bdr2.1598] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
21 Mone F, Eberhardt RY, Morris RK, Hurles ME, McMullan DJ, Maher ER, Lord J, Chitty LS, Giordano JL, Wapner RJ, Kilby MD; CODE Study Collaborators. COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review. Ultrasound Obstet Gynecol 2021;57:43-51. [PMID: 32388881 DOI: 10.1002/uog.22072] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
22 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. From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. Genet Med 2019;21:2303-10. [PMID: 30918357 DOI: 10.1038/s41436-019-0499-9] [Cited by in Crossref: 17] [Cited by in F6Publishing: 12] [Article Influence: 5.7] [Reference Citation Analysis]
23 Nunley PB, Hashmi SS, Johnson A, Ashfaq M, Farach LS, Singletary CN, Stevens BK. Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model. Prenat Diagn 2021;41:354-61. [PMID: 33128384 DOI: 10.1002/pd.5858] [Reference Citation Analysis]
24 Konialis C, Assimakopoulos E, Hagnefelt B, Karapanou S, Sotiriadis A, Pangalos C. Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings. Clin Case Rep 2017;5:308-11. [PMID: 28265396 DOI: 10.1002/ccr3.822] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
25 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. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019;393:747-57. [PMID: 30712880 DOI: 10.1016/S0140-6736(18)31940-8] [Cited by in Crossref: 182] [Cited by in F6Publishing: 62] [Article Influence: 60.7] [Reference Citation Analysis]
26 Abou Tayoun AN, Spinner NB, Rehm HL, Green RC, Bianchi DW. Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations: Prenatal DNA sequencing: clinical and laboratory considerations. Prenat Diagn 2018;38:26-32. [DOI: 10.1002/pd.5038] [Cited by in Crossref: 38] [Cited by in F6Publishing: 34] [Article Influence: 7.6] [Reference Citation Analysis]
27 Riedijk S, Diderich K, Galjaard R, Srebniak G. Genome Sequencing in Prenatal Testing and Screening: Lessons Learned From Broadening the Scope of Prenatal Genetics From Conventional Karyotyping to Whole-Genome Microarray Analysis. Clinical Genome Sequencing. Elsevier; 2019. pp. 157-80. [DOI: 10.1016/b978-0-12-813335-4.00010-6] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
28 Powis Z, Hart A, Cherny S, Petrik I, Palmaer E, Tang S, Jones C. Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. BMC Med Genet 2017;18:60. [PMID: 28577551 DOI: 10.1186/s12881-017-0426-3] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
29 Qiao F, Wang Y, Zhang C, Zhou R, Wu Y, Wang C, Meng L, Mao P, Cheng Q, Luo C, Hu P, Xu Z. Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect. Ultrasound Obstet Gynecol 2021;58:377-87. [PMID: 33142350 DOI: 10.1002/uog.23532] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
30 Abou Tayoun A, Mason-Suares H. Considerations for whole exome sequencing unique to prenatal care. Hum Genet 2020;139:1149-59. [PMID: 31701237 DOI: 10.1007/s00439-019-02085-7] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
31 Grant P, Langlois S, Lynd LD, Austin JC, Elliott AM; GenCOUNSEL Study. Out-of-pocket and private pay in clinical genetic testing: A scoping review. Clin Genet 2021. [PMID: 34080181 DOI: 10.1111/cge.14006] [Reference Citation Analysis]
32 Normand EA, Alaimo JT, Van den Veyver IB. Exome and genome sequencing in reproductive medicine. Fertil Steril 2018;109:213-20. [PMID: 29395096 DOI: 10.1016/j.fertnstert.2017.12.010] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
33 Van den Veyver IB. Recent advances in prenatal genetic screening and testing. F1000Res 2016;5:2591. [PMID: 27853526 DOI: 10.12688/f1000research.9215.1] [Cited by in Crossref: 39] [Cited by in F6Publishing: 26] [Article Influence: 6.5] [Reference Citation Analysis]