BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: 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. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. Genet Med. 2017;19:1207-1216. [PMID: 28518170 DOI: 10.1038/gim.2017.33] [Cited by in Crossref: 91] [Cited by in F6Publishing: 75] [Article Influence: 18.2] [Reference Citation Analysis]
Number Citing Articles
1 Najafi K, Mehrjoo Z, Ardalani F, Ghaderi-Sohi S, Kariminejad A, Kariminejad R, Najmabadi H. Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities. Sci Rep 2021;11:6952. [PMID: 33772059 DOI: 10.1038/s41598-021-86309-9] [Reference Citation Analysis]
2 Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi ML, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A. Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. Mol Genet Genomic Med 2020;8:e1054. [PMID: 31756055 DOI: 10.1002/mgg3.1054] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
3 Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies. Acta Obstet Gynecol Scand 2021;100:1106-15. [PMID: 33249554 DOI: 10.1111/aogs.14053] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
4 Mardy AH, Chetty SP, Norton ME, Sparks TN. A system-based approach to the genetic etiologies of non-immune hydrops fetalis. Prenat Diagn 2019;39:732-50. [PMID: 31087399 DOI: 10.1002/pd.5479] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 5.7] [Reference Citation Analysis]
5 Adams AD, Stover S, Rac MW. Omphalocele-What should we tell the prospective parents? Prenat Diagn 2021;41:486-96. [PMID: 33540475 DOI: 10.1002/pd.5886] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
6 Rabinowitz T, Deri-Rozov S, Shomron N. Improved noninvasive fetal variant calling using standardized benchmarking approaches. Comput Struct Biotechnol J 2021;19:509-17. [PMID: 33510858 DOI: 10.1016/j.csbj.2020.12.032] [Reference Citation Analysis]
7 Li Y, Yan H, Chen J, Chen F, Jian W, Wang J, Ye X, Li Y, Li N, Chiu PCN, Chen M. The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China. BMC Pregnancy Childbirth 2021;21:266. [PMID: 33784964 DOI: 10.1186/s12884-021-03723-7] [Reference Citation Analysis]
8 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]
9 Basel-Salmon L, Sukenik-Halevy R. Challenges in variant interpretation in prenatal exome sequencing. Eur J Med Genet 2021;65:104410. [PMID: 34952236 DOI: 10.1016/j.ejmg.2021.104410] [Reference Citation Analysis]
10 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] [Article Influence: 1.0] [Reference Citation Analysis]
11 Chen M, Chen J, Wang C, Chen F, Xie Y, Li Y, Li N, Wang J, Zhang VW, Chen D. Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies. Eur J Obstet Gynecol Reprod Biol 2020;251:119-24. [PMID: 32502767 DOI: 10.1016/j.ejogrb.2020.04.033] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
12 Robbins SM, Thimm MA, Valle D, Jelin AC. Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes. J Assist Reprod Genet 2019;36:1539-48. [PMID: 31273585 DOI: 10.1007/s10815-019-01499-6] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 4.7] [Reference Citation Analysis]
13 Guo W, Zhu X, Yan L, Qiao J. The present and future of whole-exome sequencing in studying and treating human reproductive disorders. Journal of Genetics and Genomics 2018;45:517-25. [DOI: 10.1016/j.jgg.2018.08.004] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
14 Sukenik-Halevy R, Ruhrman-Shahar N, Orenstein N, Gonzaga-Jauregui C, Shuldiner AR, Magal N, Hagari O, Azulay N, Lidzbarsky GA, Bazak L, Basel-Salmon L. The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting. Prenat Diagn 2021;41:701-7. [PMID: 33686681 DOI: 10.1002/pd.5929] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
15 Wojcik MH, Reimers R, Poorvu T, Agrawal PB. Genetic diagnosis in the fetus. J Perinatol 2020;40:997-1006. [PMID: 32094481 DOI: 10.1038/s41372-020-0627-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
16 Zhang SJ, Lin HB, Jiang QX, He SZ, Lyu GR. Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report. World J Clin Cases 2021; 9(23): 6832-6838 [PMID: 34447832 DOI: 10.12998/wjcc.v9.i23.6832] [Reference Citation Analysis]
17 Bardi F, Smith E, Kuilman M, Snijders RJM, Bilardo CM. Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands. Fetal Diagn Ther 2019;46:12-9. [PMID: 30045038 DOI: 10.1159/000490723] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
18 Greenbaum L, Pode-Shakked B, Eisenberg-Barzilai S, Dicastro-Keidar M, Bar-Ziv A, Goldstein N, Reznik-Wolf H, Poran H, Rigbi A, Barel O, Bertoli-Avella AM, Bauer P, Regev M, Raas-Rothschild A, Pras E, Berkenstadt M. Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families. Front Genet 2019;10:425. [PMID: 31428121 DOI: 10.3389/fgene.2019.00425] [Cited by in Crossref: 15] [Cited by in F6Publishing: 10] [Article Influence: 5.0] [Reference Citation Analysis]
19 Zhou J, Yang Z, Sun J, Liu L, Zhou X, Liu F, Xing Y, Cui S, Xiong S, Liu X, Yang Y, Wei X, Zou G, Wang Z, Wei X, Wang Y, Zhang Y, Yan S, Wu F, Zeng F, Wang J, Duan T, Peng Z, Sun L. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing. Genes (Basel) 2021;12:376. [PMID: 33800913 DOI: 10.3390/genes12030376] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
20 Lei L, Zhou L, Xiong JJ. Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies. Eur J Med Genet 2021;64:104288. [PMID: 34246755 DOI: 10.1016/j.ejmg.2021.104288] [Reference Citation Analysis]
21 Reischer T, Liebmann-Reindl S, Bettelheim D, Balendran-Braun S, Streubel B. Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome. Prenat Diagn 2020;40:1532-9. [PMID: 32779773 DOI: 10.1002/pd.5809] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
22 Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. J Med Genet 2021;58:400-13. [PMID: 32732226 DOI: 10.1136/jmedgenet-2020-106867] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
23 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]
24 Monaghan KG, Leach NT, Pekarek D, Prasad P, Rose NC; ACMG Professional Practice and Guidelines Committee. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020;22:675-80. [PMID: 31911674 DOI: 10.1038/s41436-019-0731-7] [Cited by in Crossref: 41] [Cited by in F6Publishing: 28] [Article Influence: 20.5] [Reference Citation Analysis]
25 Carbone L, Cariati F, Sarno L, Conforti A, Bagnulo F, Strina I, Pastore L, Maruotti GM, Alviggi C. Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges. Genes (Basel) 2020;12:E15. [PMID: 33374411 DOI: 10.3390/genes12010015] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
26 Aggarwal S, Vineeth VS, Das Bhowmik A, Tandon A, Kulkarni A, Narayanan DL, Bhattacherjee A, Dalal A. Exome sequencing for perinatal phenotypes: The significance of deep phenotyping. Prenat Diagn 2020;40:260-73. [PMID: 31742715 DOI: 10.1002/pd.5616] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
27 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]
28 Bui TPH, Nguyen NT, Ngo VD, Nguyen HN, Ly TTH, Do HD, Huynh MT. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report. BMC Med Genet 2020;21:18. [PMID: 32000717 DOI: 10.1186/s12881-020-0962-0] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
29 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. An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. Genet Med 2020;22:954-61. [PMID: 31974414 DOI: 10.1038/s41436-020-0750-4] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 7.5] [Reference Citation Analysis]
30 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]
31 Farrell RM, Agatisa PK, Michie MM, Greene A, Ford PJ. The personal utility of cfDNA screening: Pregnant patients' experiences with cfDNA screening and views on expanded cfDNA panels. J Genet Couns 2020;29:88-96. [PMID: 31680382 DOI: 10.1002/jgc4.1183] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
32 Kilby MD. The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies. BJOG 2021;128:420-9. [PMID: 32975887 DOI: 10.1111/1471-0528.16533] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
33 Mastromoro G, Guadagnolo D, Giancotti A, Di Gregorio MG, Marchionni E, Vena F, Lepri FR, Bargiacchi L, Ventriglia F, Di Gioia C, Novelli A, Pizzuti A. Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings. Eur J Med Genet 2021;64:104106. [PMID: 33227434 DOI: 10.1016/j.ejmg.2020.104106] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
34 Zhou X, Chandler N, Deng L, Zhou J, Yuan M, Sun L. Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel. Prenat Diagn 2018;38:692-9. [PMID: 29907962 DOI: 10.1002/pd.5298] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 5.5] [Reference Citation Analysis]
35 Horn R. [France and Great-Britain at the age of genomic medicine: new ethical challenges in reproductive medicine]. Med Sci (Paris) 2019;35:163-8. [PMID: 30774085 DOI: 10.1051/medsci/2019004] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
36 Miny P, Filges I, Tercanli S, Holzgreve W. Foetal Diagnosis. In: John Wiley & Sons Ltd, editor. eLS. Chichester: John Wiley & Sons, Ltd; 2001. pp. 1-7. [DOI: 10.1002/9780470015902.a0027053] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
37 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]
38 Chen X, Jiang Y, Chen R, Qi Q, Zhang X, Zhao S, Liu C, Wang W, Li Y, Sun G, Song J, Huang H, Cheng C, Zhang J, Cheng L, Liu J. Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies. J Transl Med 2022;20:10. [PMID: 34980134 DOI: 10.1186/s12967-021-03202-9] [Reference Citation Analysis]
39 Horn R, Parker M. Health professionals' and researchers' perspectives on prenatal whole genome and exome sequencing: 'We can't shut the door now, the genie's out, we need to refine it'. PLoS One 2018;13:e0204158. [PMID: 30240445 DOI: 10.1371/journal.pone.0204158] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
40 Mellis R, Chandler N, Chitty LS. Next-generation sequencing and the impact on prenatal diagnosis. Expert Rev Mol Diagn 2018;18:689-99. [PMID: 29962246 DOI: 10.1080/14737159.2018.1493924] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 4.5] [Reference Citation Analysis]
41 Chau MHK, Choy KW. The role of chromosomal microarray and exome sequencing in prenatal diagnosis. Curr Opin Obstet Gynecol 2021;33:148-55. [PMID: 33620893 DOI: 10.1097/GCO.0000000000000692] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
42 Rabinowitz T, Polsky A, Golan D, Danilevsky A, Shapira G, Raff C, Basel-Salmon L, Matar RT, Shomron N. Bayesian-based noninvasive prenatal diagnosis of single-gene disorders. Genome Res 2019;29:428-38. [PMID: 30787035 DOI: 10.1101/gr.235796.118] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
43 Mone F, Quinlan-Jones E, Kilby MD. Clinical utility of exome sequencing in the prenatal diagnosis of congenital anomalies: A Review. Eur J Obstet Gynecol Reprod Biol 2018;231:19-24. [PMID: 30317140 DOI: 10.1016/j.ejogrb.2018.10.016] [Cited by in Crossref: 15] [Cited by in F6Publishing: 10] [Article Influence: 3.8] [Reference Citation Analysis]
44 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] [Reference Citation Analysis]
45 Ferretti L, Mellis R, Chitty LS. Update on the use of exome sequencing in the diagnosis of fetal abnormalities. Eur J Med Genet 2019;62:103663. [PMID: 31085342 DOI: 10.1016/j.ejmg.2019.05.002] [Cited by in Crossref: 22] [Cited by in F6Publishing: 13] [Article Influence: 7.3] [Reference Citation Analysis]
46 Mcpherson E, Nestoridi E, Heinke D, Roberts DJ, Fretts R, Yazdy MM, Lin AE. Alternatives to Autopsy for Fetal and Early Neonatal (Perinatal) Deaths: Insights from the Wisconsin Stillbirth Service Program: Targeted Protocol for Stillbirths. Birth Defects Research 2017;109:1430-41. [DOI: 10.1002/bdr2.1112] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
47 Shamseldin HE, Kurdi W, Almusafri F, Alnemer M, Alkaff A, Babay Z, Alhashem A, Tulbah M, Alsahan N, Khan R, Sallout B, Al Mardawi E, Seidahmed MZ, Meriki N, Alsaber Y, Qari A, Khalifa O, Eyaid W, Rahbeeni Z, Kurdi A, Hashem M, Alshidi T, Al-Obeid E, Abdulwahab F, Ibrahim N, Ewida N, El-Akouri K, Al Mulla M, Ben-Omran T, Pergande M, Cirak S, Al Tala S, Shaheen R, Faqeih E, Alkuraya FS. Molecular autopsy in maternal-fetal medicine. Genet Med 2018;20:420-7. [PMID: 28749478 DOI: 10.1038/gim.2017.111] [Cited by in Crossref: 47] [Cited by in F6Publishing: 40] [Article Influence: 9.4] [Reference Citation Analysis]
48 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]
49 Hayward J, Chitty LS. Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing. Semin Fetal Neonatal Med 2018;23:94-101. [PMID: 29305293 DOI: 10.1016/j.siny.2017.12.002] [Cited by in Crossref: 38] [Cited by in F6Publishing: 30] [Article Influence: 9.5] [Reference Citation Analysis]
50 Daum H, Meiner V, Elpeleg O, Harel T; collaborating authors. Fetal exome sequencing: yield and limitations in a tertiary referral center. Ultrasound Obstet Gynecol 2019;53:80-6. [PMID: 29947050 DOI: 10.1002/uog.19168] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 7.3] [Reference Citation Analysis]
51 Wojcik MH, Agrawal PB. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud 2020;6:a005504. [PMID: 32826208 DOI: 10.1101/mcs.a005504] [Reference Citation Analysis]
52 Marchuk DS, Crooks K, Strande N, Kaiser-Rogers K, Milko LV, Brandt A, Arreola A, Tilley CR, Bizon C, Vora NL, Wilhelmsen KC, Evans JP, Berg JS. Increasing the diagnostic yield of exome sequencing by copy number variant analysis. PLoS One 2018;13:e0209185. [PMID: 30557390 DOI: 10.1371/journal.pone.0209185] [Cited by in Crossref: 28] [Cited by in F6Publishing: 22] [Article Influence: 7.0] [Reference Citation Analysis]
53 Jiang L, Zhao YD, Chen WX. The Function of the Novel Mechanical Activated Ion Channel Piezo1 in the Human Osteosarcoma Cells. Med Sci Monit 2017;23:5070-82. [PMID: 29065102 DOI: 10.12659/msm.906959] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.8] [Reference Citation Analysis]
54 Vora NL, Hui L. Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development. Genet Med 2018;20:791-9. [PMID: 30032162 DOI: 10.1038/s41436-018-0087-4] [Cited by in Crossref: 13] [Cited by in F6Publishing: 7] [Article Influence: 3.3] [Reference Citation Analysis]
55 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 F6Publishing: 1] [Reference Citation Analysis]
56 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: 145] [Cited by in F6Publishing: 124] [Article Influence: 29.0] [Reference Citation Analysis]
57 Felice V, Abhyankar A, Jobanputra V. Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities. Methods Mol Biol 2019;1885:267-85. [PMID: 30506204 DOI: 10.1007/978-1-4939-8889-1_18] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
58 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]
59 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] [Reference Citation Analysis]
60 Leombroni M, Khalil A, Liberati M, D'Antonio F. Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies. Eur J Paediatr Neurol 2018;22:951-62. [PMID: 30448279 DOI: 10.1016/j.ejpn.2018.08.007] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 2.8] [Reference Citation Analysis]
61 Marangoni M, Smits G, Ceysens G, Costa E, Coulon R, Daelemans C, De Coninck C, Derisbourg S, Gajewska K, Garofalo G, Gounongbe C, Guizani M, Holoye A, Houba C, Makhoul J, Norgaard C, Regnard C, Romée S, Soto J, Stagel-Trabbia A, Van Rysselberge M, Vercoutere A, Zaytouni S, Bouri S, D'Haene N, D'Onle D, Dugauquier C, Racu ML, Rocq L, Segers V, Verocq C, Avni EF, Cassart M, Massez A, Blaumeiser B, Brischoux-Boucher E, Bulk S, De Ravel T, Debray G, Dimitrov B, Janssens S, Keymolen K, Laterre M, van Berkel K, Van Maldergem L, Vandernoot I, Vilain C, Donner C, Tecco L, Thomas D, Désir J, Abramowicz M, Migeotte I. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts. Genet Med 2021:S1098-3600(21)05244-8. [PMID: 34906519 DOI: 10.1016/j.gim.2021.09.016] [Reference Citation Analysis]
62 Yang Y, Yassan L, Leung EKY, Yeo KJ. Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. Clin Chim Acta 2018;479:208-11. [PMID: 29355488 DOI: 10.1016/j.cca.2018.01.027] [Reference Citation Analysis]
63 Rinaldi B, Race V, Corveleyn A, Van Hoof E, Bauters M, Van Den Bogaert K, Denayer E, de Ravel T, Legius E, Baldewijns M, Aertsen M, Lewi L, De Catte L, Breckpot J, Devriendt K. Next-generation sequencing in prenatal setting: Some examples of unexpected variant association. Eur J Med Genet 2020;63:103875. [PMID: 32058062 DOI: 10.1016/j.ejmg.2020.103875] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
64 Jelin AC, Vora N. Whole Exome Sequencing: Applications in Prenatal Genetics. Obstet Gynecol Clin North Am 2018;45:69-81. [PMID: 29428287 DOI: 10.1016/j.ogc.2017.10.003] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 6.0] [Reference Citation Analysis]
65 Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain 2019;142:867-84. [PMID: 30879067 DOI: 10.1093/brain/awz045] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 3.7] [Reference Citation Analysis]
66 Daum H, Stern S, Shkedi-Rafid S. Is it time for prenatal chromosomal-microarray analysis to all women? A review of the diagnostic yield in structurally normal fetuses. Curr Opin Obstet Gynecol 2021;33:143-7. [PMID: 33620892 DOI: 10.1097/GCO.0000000000000690] [Reference Citation Analysis]
67 Becher N, Andreasen L, Sandager P, Lou S, Petersen OB, Christensen R, Vogel I. Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark. Acta Obstet Gynecol Scand 2020;99:783-90. [PMID: 32304219 DOI: 10.1111/aogs.13871] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
68 Aarabi M, Sniezek O, Jiang H, Saller DN, Bellissimo D, Yatsenko SA, Rajkovic A. Importance of complete phenotyping in prenatal whole exome sequencing. Hum Genet 2018;137:175-81. [PMID: 29392406 DOI: 10.1007/s00439-017-1860-1] [Cited by in Crossref: 30] [Cited by in F6Publishing: 26] [Article Influence: 7.5] [Reference Citation Analysis]
69 Sabbagh R, Van den Veyver IB. The current and future impact of genome-wide sequencing on fetal precision medicine. Hum Genet 2020;139:1121-30. [PMID: 31754893 DOI: 10.1007/s00439-019-02088-4] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.7] [Reference Citation Analysis]
70 Kowalczyk K, Bartnik-Głaska M, Smyk M, Plaskota I, Bernaciak J, Kędzior M, Wiśniowiecka-Kowalnik B, Jakubów-Durska K, Braun-Walicka N, Barczyk A, Geremek M, Castañeda J, Kutkowska-Kaźmierczak A, Własienko P, Dębska M, Kucińska-Chahwan A, Roszkowski T, Kozłowski S, Mikulska B, Issat T, Obersztyn E, Nowakowska BA. Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities. Genes (Basel) 2021;12:2021. [PMID: 34946970 DOI: 10.3390/genes12122021] [Reference Citation Analysis]
71 Hwang N, Jang JH, Cho EH, Choi R, Choi SJ, Park HD. Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis. Mol Genet Genomic Med 2021;9:e1838. [PMID: 34655177 DOI: 10.1002/mgg3.1838] [Reference Citation Analysis]
72 Strande NT, Brnich SE, Roman TS, Berg JS. Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. Genet Med 2018;20:918-26. [PMID: 29988079 DOI: 10.1038/s41436-018-0100-y] [Cited by in Crossref: 25] [Cited by in F6Publishing: 18] [Article Influence: 6.3] [Reference Citation Analysis]
73 Butler KM, Bahrambeigi V, Merrihew A, Friez MJ, Cathey SS. Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature. Clin Dysmorphol 2021;30:167-72. [PMID: 34456244 DOI: 10.1097/MCD.0000000000000387] [Reference Citation Analysis]
74 Gray KJ, Wilkins-Haug LE, Herrig NJ, Vora NL. Fetal phenotypes emerge as genetic technologies become robust. Prenat Diagn 2019;39:811-7. [PMID: 31330568 DOI: 10.1002/pd.5532] [Cited by in Crossref: 21] [Cited by in F6Publishing: 15] [Article Influence: 7.0] [Reference Citation Analysis]
75 Harris S, Gilmore K, Hardisty E, Lyerly AD, Vora NL. Ethical and counseling challenges in prenatal exome sequencing. Prenat Diagn 2018;38:897-903. [PMID: 30171820 DOI: 10.1002/pd.5353] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 3.0] [Reference Citation Analysis]
76 Quinlan-jones E, Hillman SC, Kilby MD, Greenfield SM. Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly. Prenatal Diagnosis 2017;37:1225-31. [DOI: 10.1002/pd.5172] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 3.6] [Reference Citation Analysis]
77 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]
78 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]
79 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. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet 2019;393:758-67. [PMID: 30712878 DOI: 10.1016/S0140-6736(18)32042-7] [Cited by in Crossref: 137] [Cited by in F6Publishing: 47] [Article Influence: 45.7] [Reference Citation Analysis]
80 Xue S, Yan H, Chen J, Li N, Wang J, Liu Y, Zhang H, Li S, Zhang W, Chen D, Chen M. Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology. Cytogenet Genome Res 2020;160:57-62. [PMID: 32036363 DOI: 10.1159/000506095] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
81 Bourgon N, Lefebvre M, Kuentz P, Thevenon J, Jouan T, Duffourd Y, Philippe C, Tran Mau-Them F, Durand C, Harizay F, Laurent N, Rousseau T, Faivre L, Thauvin-Robinet C. Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis. Prenat Diagn 2019;39:806-10. [PMID: 30681164 DOI: 10.1002/pd.5424] [Cited by in Crossref: 2] [Article Influence: 0.7] [Reference Citation Analysis]
82 Michie M. Is preparation a good reason for prenatal genetic testing? Ethical and critical questions. Birth Defects Res 2020;112:332-8. [PMID: 32115901 DOI: 10.1002/bdr2.1651] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
83 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]
84 Stevens BK, Noblin SJ, Chen HY, Czerwinski J, Friel LA, Wagner C. Introduction of cell-free DNA screening is associated with changes in prenatal genetic counseling indications. J Genet Couns 2019;28:692-9. [PMID: 30791172 DOI: 10.1002/jgc4.1095] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
85 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]
86 Ross JP, Dion PA, Rouleau GA. Exome sequencing in genetic disease: recent advances and considerations. F1000Res 2020;9:F1000 Faculty Rev-336. [PMID: 32431803 DOI: 10.12688/f1000research.19444.1] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
87 Zhou X, Zhou J, Wei X, Yao R, Yang Y, Deng L, Zou G, Wang X, Yang Y, Duan T, Wang J, Sun L. Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis. Front Genet 2021;12:616392. [PMID: 33897756 DOI: 10.3389/fgene.2021.616392] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
88 Reches A, Hiersch L, Simchoni S, Barel D, Greenberg R, Ben Sira L, Malinger G, Yaron Y. Whole-exome sequencing in fetuses with central nervous system abnormalities. J Perinatol 2018;38:1301-8. [PMID: 30108342 DOI: 10.1038/s41372-018-0199-3] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 3.3] [Reference Citation Analysis]