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For: Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn 2018;38:10-9. [PMID: 28654730 DOI: 10.1002/pd.5102] [Cited by in Crossref: 190] [Cited by in F6Publishing: 205] [Article Influence: 31.7] [Reference Citation Analysis]
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10 Lesieur E, Riccardi F, Bault J, Levaillant J, Torrents J, Paternostre A, Couly G, Quarello E. L’examen des oreilles en anténatal : quand, comment et pourquoi ? Gynécologie Obstétrique Fertilité & Sénologie 2022;50:624-637. [DOI: 10.1016/j.gofs.2022.05.005] [Reference Citation Analysis]
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12 Ji Y, Gong J, Sedlazeck FJ, Fan S. Characterizing the genetic polymorphisms in 370 challenging medically relevant genes using long-read sequencing data from 41 human individuals among 19 global populations.. [DOI: 10.1101/2022.08.03.502734] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
13 Hill M, Ellard S, Fisher J, Fulop N, Knight M, Kroese M, Ledger J, Leeson-beevers K, Mcewan A, Mcmullan D, Mellis R, Morris S, Parker M, Tapon D, Baple E, Blackburn L, Choudry A, Lafarge C, Mcinnes-dean H, Peter M, Ramakrishnan R, Roberts L, Searle B, Smith E, Walton H, Wynn SL, Han Wu W, Chitty LS. Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service. NIHR Open Res 2022;2:10. [DOI: 10.3310/nihropenres.13247.2] [Reference Citation Analysis]
14 Outram SM, Brown JEH, Zamora AN, Sahin-hodoglugil N, Ackerman SL. Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis. Front Genet 2022;13:883225. [DOI: 10.3389/fgene.2022.883225] [Reference Citation Analysis]
15 Yaron Y, Ofen Glassner V, Mory A, Zunz Henig N, Kurolap A, Bar Shira A, Brabbing Goldstein D, Marom D, Ben Sira L, Baris Feldman H, Malinger G, Krajden Haratz K, Reches A. Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies. Ultrasound Obstet Gynecol 2022;60:59-67. [PMID: 35229910 DOI: 10.1002/uog.24885] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
16 Moradi N, Ohadian Moghadam S, Heidarzadeh S. Application of next-generation sequencing in the diagnosis of gastric cancer. Scand J Gastroenterol 2022;57:842-55. [PMID: 35293278 DOI: 10.1080/00365521.2022.2041717] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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18 Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Silva RG, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, Robinson PN. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. Am J Med Genet C Semin Med Genet 2022;190:231-42. [PMID: 35872606 DOI: 10.1002/ajmg.c.31989] [Reference Citation Analysis]
19 Qiu Z, Chang WT, Chou YC, Wen KC, Ziying Y, Yuen K, Cai X, Chang TY, Lai HC, Sung PL. Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature. Taiwan J Obstet Gynecol 2022;61:535-8. [PMID: 35595454 DOI: 10.1016/j.tjog.2022.03.025] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
20 Brown JEH, Zamora AN, Outram S, Sparks TN, Lianoglou BR, Norstad M, Sahin Hodoglugil NN, Norton ME, Ackerman SL. “Let’s Just Wait Until She’s Born”: Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research. Front Genet 2022;13:882703. [DOI: 10.3389/fgene.2022.882703] [Reference Citation Analysis]
21 Van den Veyver IB. Prenatal exomes and genomes - so much new and so much more to learn. Prenat Diagn 2022;42:659-61. [PMID: 35583086 DOI: 10.1002/pd.6152] [Reference Citation Analysis]
22 Van den Veyver IB, Chandler N, Wilkins-Haug LE, Wapner RJ, Chitty LS; ISPD Board of Directors. International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. Prenat Diagn 2022;42:796-803. [PMID: 35583085 DOI: 10.1002/pd.6157] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 8.0] [Reference Citation Analysis]
23 Yang Y, Wang M, Wang H. Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system. Mol Genet Genomics 2022. [PMID: 35583673 DOI: 10.1007/s00438-022-01899-x] [Reference Citation Analysis]
24 Chandler NJ, Scotchman E, Mellis R, Ramachandran V, Roberts R, Chitty LS. Lessons learnt from prenatal exome sequencing. Prenat Diagn 2022. [PMID: 35506549 DOI: 10.1002/pd.6165] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
25 Kernie CG, Wynn J, Rosenbaum A, de Voest J, Galloway S, Giordano J, Stover S, Westerfield L, Gilmore K, Wapner RJ, Van den Veyver IB, Vora NL, Clifton RG, Caughey AB, Chung WK. Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies. Prenat Diagn 2022. [PMID: 35476893 DOI: 10.1002/pd.6153] [Reference Citation Analysis]
26 Buchanan J, Hill M, Vass CM, Hammond J, Riedijk S, Klapwijk JE, Harding E, Lou S, Vogel I, Hui L, Ingvoldstad-Malmgren C, Soller MJ, Ormond KE, Choolani M, Zheng Q, Chitty LS, Lewis C. Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey. Prenat Diagn 2022. [PMID: 35476801 DOI: 10.1002/pd.6159] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
27 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. Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience. Genes 2022;13:724. [DOI: 10.3390/genes13050724] [Reference Citation Analysis]
28 Zhuang J, Chen C, Chen Y, Zeng S, Jiang Y, Wang Y, Chen X, Xie Y, Wang G. Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing. Front Genet 2022;13:829613. [DOI: 10.3389/fgene.2022.829613] [Reference Citation Analysis]
29 Sun H, Zhang S, Wang J, Zhou X, Zhang H, Yang H, He Y. Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot. BMC Med Genomics 2022;15:40. [PMID: 35241061 DOI: 10.1186/s12920-022-01185-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
30 Chen G, Xiong S, Zou G, Wu F, Qu X, Alawbathani S, Sun L. A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review. Mol Cytogenet 2022;15. [DOI: 10.1186/s13039-022-00584-3] [Reference Citation Analysis]
31 Talati AN, Gilmore KL, Hardisty E, Vora NL. How can prenatal exome sequencing inform future pregnancies? Am J Obstet Gynecol 2022:S0002-9378(22)00107-7. [PMID: 35167813 DOI: 10.1016/j.ajog.2022.02.008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
32 Hill M, Ellard S, Fisher J, Fulop N, Knight M, Kroese M, Ledger J, Leeson-beevers K, Mcewan A, Mcmullan D, Mellis R, Morris S, Parker M, Tapon D, Baple E, Blackburn L, Choudry A, Lafarge C, Mcinnes-dean H, Peter M, Ramakrishnan R, Roberts L, Searle B, Wynn SL, Han Wu W, Chitty LS. Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service. NIHR Open Res 2022;2:10. [DOI: 10.3310/nihropenres.13247.1] [Reference Citation Analysis]
33 Hammond J, Klapwijk JE, Riedijk S, Lou S, Ormond KE, Vogel I, Hui L, Sziepe E, Buchanan J, Ingvoldstad-malmgren C, Soller MJ, Harding E, Hill M, Lewis C. Assessing women’s preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design. PLoS ONE 2022;17:e0261898. [DOI: 10.1371/journal.pone.0261898] [Reference Citation Analysis]
34 Romero R, de la Fuente L, Del Pozo-Valero M, Riveiro-Álvarez R, Trujillo-Tiebas MJ, Martín-Mérida I, Ávila-Fernández A, Iancu IF, Perea-Romero I, Núñez-Moreno G, Damián A, Rodilla C, Almoguera B, Cortón M, Ayuso C, Mínguez P. An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases. NPJ Genom Med 2022;7:7. [PMID: 35087072 DOI: 10.1038/s41525-021-00278-6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
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38 Haidar H, Iskander R. Non-invasive Prenatal Testing for Fetal Whole Genome Sequencing: An Interpretive Critical Review of the Ethical, Legal, Social, and Policy Implications. Canadian Journal of Bioethics 2022;5:1. [DOI: 10.7202/1087199ar] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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40 Schindewolf E, Moldenhauer JS. Prenatal Diagnosis and Genetic Counseling. Fundamentals of Pediatric Surgery 2022. [DOI: 10.1007/978-3-031-07524-7_2] [Reference Citation Analysis]
41 Farrell RM. Women, Children, Families and the Translation of Genomics in Reproductive Medicine. The International Library of Bioethics 2022. [DOI: 10.1007/978-3-030-82536-2_1] [Reference Citation Analysis]
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43 Vaknin N, Azoulay N, Tsur E, Tripolszki K, Urzi A, Rolfs A, Bauer P, Achiron R, Lipitz S, Goldberg Y, Berger R, Shohat M. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses. Prenat Diagn 2021. [PMID: 34918830 DOI: 10.1002/pd.6077] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
44 Farrell RM, Pierce M, Collart C, Yao M, Coleridge M, Chien EK, Rose SS, Lintel M, Perni U, Edmonds BT. Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options? BMC Pregnancy Childbirth 2021;21:806. [PMID: 34863134 DOI: 10.1186/s12884-021-04282-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
45 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. 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. Hum Genet 2021. [PMID: 34853893 DOI: 10.1007/s00439-021-02406-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
46 Sparks TN. The Current State and Future of Fetal Therapies. Clin Obstet Gynecol 2021;64:926-32. [PMID: 34560766 DOI: 10.1097/GRF.0000000000000651] [Reference Citation Analysis]
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48 Plantinga M, Zwienenberg L, van Dijk E, Breet H, Diphoorn J, El Mecky J, Bouman K, Verheij J, Birnie E, Ranchor AV, Corsten-Janssen N, van Langen IM. Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy. Prenat Diagn 2021. [PMID: 34643287 DOI: 10.1002/pd.6056] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
49 Lantos JD. Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children. The Journal of Pediatrics 2021;237:13-5. [DOI: 10.1016/j.jpeds.2021.06.042] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
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51 Mellis R, Eberhardt RY, Hamilton SJ, McMullan DJ, Kilby MD, Maher ER, Hurles ME, Giordano JL, Aggarwal V, Goldstein DB, Wapner RJ, Chitty LS; PAGE Consortium. Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? BJOG 2021. [PMID: 34411415 DOI: 10.1111/1471-0528.16869] [Cited by in Crossref: 12] [Cited by in F6Publishing: 14] [Article Influence: 6.0] [Reference Citation Analysis]
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56 So PL, Luk HM, Cheung KW, Hui W, Chung MY, Mak ASL, Lok WY, Yu KPT, Cheng SSW, Hau EWL, Ho S, Lam STS, Lo IFM. Prenatal phenotype of Kabuki syndrome: A case series and literature review. Prenat Diagn 2021;41:1089-100. [PMID: 34185329 DOI: 10.1002/pd.5998] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
57 Filges I, Miny P, Holzgreve W, Tercanli S. How genomics is changing the practice of prenatal testing. J Perinat Med 2021. [PMID: 34214293 DOI: 10.1515/jpm-2021-0220] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
58 Lin SY, Chuang GT, Hung CH, Lin WC, Jeng YM, Yen TA, Chang K, Chien YH, Hwu WL, Lee CN, Tsai IJ, Lee NC. Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios. Front Genet 2021;12:606970. [PMID: 34234805 DOI: 10.3389/fgene.2021.606970] [Reference Citation Analysis]
59 Cannata G, Caporilli C, Grassi F, Perrone S, Esposito S. Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics. Int J Mol Sci 2021;22:6353. [PMID: 34198563 DOI: 10.3390/ijms22126353] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
60 Zhang X, Ren Y, Song R, Wang L, Xu H, Xie X, Zhou H, Sun P, Zhang M, Zhao Q, You Y, Gao Z, Meng Y, Lu Y. Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield. Prenat Diagn 2021. [PMID: 34091931 DOI: 10.1002/pd.5974] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
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63 Akbarian F, Tavalaee M, Sherkat R, Shahrooei M, Nasr-Esfahani MH. A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia. Andrologia 2021;53:e14080. [PMID: 33966302 DOI: 10.1111/and.14080] [Reference Citation Analysis]
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