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Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Brigitte Faas, Thatjana Gardeitchik, Suzanne C E H Sallevelt, Aimee Paulussen, Servi J C Stevens, Esther Sikkel, Mariet W Elting, Merel C van Maarle, Karin E M Diderich, Nicole Corsten-Janssen, Klaske D Lichtenbelt, Guus Lachmeijer, Lisenka E L M Vissers, Helger G Yntema, Marcel Nelen, Ilse Feenstra, Wendy A G van Zelst-Stams. Prenat Diagn 2020
Times Cited: 15






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List of co-cited articles
54 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
198
10
66

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
165
9
60

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
11492
8
53

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Elizabeth A Normand, Alicia Braxton, Salma Nassef, Patricia A Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E Westerfield, Samantha Stover,[...]. Genome Med 2018
60
7
46

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty. Genet Med 2018
64
6
40

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
Maayke A de Koning, Monique C Haak, Phebe N Adama van Scheltema, Cacha M P C D Peeters-Scholte, Tamara T Koopmann, Esther A R Nibbeling, Emmelien Aten, Nicolette S den Hollander, Claudia A L Ruivenkamp, Mariëtte J V Hoffer,[...]. Genet Med 2019
22
5
33

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
Jin Han, Yan-Dong Yang, Yi He, Wen-Jie Liu, Li Zhen, Min Pan, Xin Yang, Victor Wei Zhang, Can Liao, Dong-Zhi Li. Prenat Diagn 2020
14
5
35

Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
Naja Becher, Lotte Andreasen, Puk Sandager, Stina Lou, Olav Bjørn Petersen, Rikke Christensen, Ida Vogel. Acta Obstet Gynecol Scand 2020
14
5
35

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG).
Kristin G Monaghan, Natalia T Leach, Dawn Pekarek, Priya Prasad, Nancy C Rose. Genet Med 2020
50
5
33

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Nicole Corsten-Janssen, Katelijne Bouman, Janouk C D Diphoorn, Arjen J Scheper, Rianne Kinds, Julia El Mecky, Hanna Breet, Joke B G M Verheij, Ron Suijkerbuijk, Leonie K Duin,[...]. Prenat Diagn 2020
16
4
26

Promises, pitfalls and practicalities of prenatal whole exome sequencing.
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty. Prenat Diagn 2018
151
4
26

Chromosomal microarray versus karyotyping for prenatal diagnosis.
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
697
3
20

Fetal exome sequencing: yield and limitations in a tertiary referral center.
H Daum, V Meiner, O Elpeleg, T Harel. Ultrasound Obstet Gynecol 2019
27
3
20

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu,[...]. JAMA Pediatr 2017
213
3
20

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
1245
3
20

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie-Ange Delrue, Dorothée Dal Soglio, Luc L Oligny, Natalie Patey,[...]. Genet Med 2018
35
3
20

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
F Fu, R Li, Y Li, Z-Q Nie, T Lei, D Wang, X Yang, J Han, M Pan, L Zhen,[...]. Ultrasound Obstet Gynecol 2018
65
3
20

Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis.
. Prenat Diagn 2018
86
3
20

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Lior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel,[...]. Front Genet 2019
15
3
20

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Neeta L Vora, Kelly Gilmore, Alicia Brandt, Chelsea Gustafson, Natasha Strande, Lori Ramkissoon, Emily Hardisty, Ann Katherine M Foreman, Kirk Wilhelmsen, Phillips Owen,[...]. Genet Med 2020
20
3
20

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives.
Elizabeth Quinlan-Jones, Mark D Kilby, Sheila Greenfield, Michael Parker, Dominic McMullan, Matthew E Hurles, Sarah C Hillman. Prenat Diagn 2016
32
3
20

Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly.
Elizabeth Quinlan-Jones, Sarah C Hillman, Mark D Kilby, Sheila M Greenfield. Prenat Diagn 2017
18
3
20

Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing.
Ruth Horn, Michael Parker. Prenat Diagn 2018
52
3
20

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
217
2
13

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects.
Constantinos Pangalos, Birgitta Hagnefelt, Konstantinos Lilakos, Christopher Konialis. PeerJ 2016
43
2
13

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
Jonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla. Prenat Diagn 2013
100
2
13

First and second trimester screening for fetal structural anomalies.
Lindsay Edwards, Lisa Hui. Semin Fetal Neonatal Med 2018
37
2
13

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis,[...]. Sci Transl Med 2012
386
2
13

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?
Karin Diderich, Marieke Joosten, Lutgarde Govaerts, Diane Van Opstal, Attie Go, Maarten Knapen, Robert-Jan Galjaard, Lies Hoefsloot, Malgorzata Srebniak. Prenat Diagn 2019
5
2
40

Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study.
Elisa Calzolari, Ingeborg Barisic, Maria Loane, Joan Morris, Diana Wellesley, Helen Dolk, Marie-Claude Addor, Larraitz Arriola, Fabrizio Bianchi, Amanda J Neville,[...]. Birth Defects Res A Clin Mol Teratol 2014
36
2
13

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist,[...]. Lancet Respir Med 2015
204
2
13

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Stephen F Kingsmore, Julie A Cakici, Michelle M Clark, Mary Gaughran, Michele Feddock, Sergey Batalov, Matthew N Bainbridge, Jeanne Carroll, Sara A Caylor, Christina Clarke,[...]. Am J Hum Genet 2019
105
2
13

Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
22874
2
13

A system-based approach to the genetic etiologies of non-immune hydrops fetalis.
Anne H Mardy, Shilpa P Chetty, Mary E Norton, Teresa N Sparks. Prenat Diagn 2019
17
2
13

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
12713
2
13

Large-scale discovery of novel genetic causes of developmental disorders.
. Nature 2015
623
2
13

Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
David J Amor, Lyn S Chitty, Ignatia B Van den Veyver. Prenat Diagn 2020
8
2
25

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.
Kyra E Stuurman, Marieke Joosten, Ineke van der Burgt, Mariet Elting, Helger G Yntema, Hanne Meijers-Heijboer, Tuula Rinne. J Med Genet 2019
18
2
13

Low-pass genome sequencing: a validated method in clinical cytogenetics.
Matthew Hoi Kin Chau, Huilin Wang, Yunli Lai, Yanyan Zhang, Fuben Xu, Yanqing Tang, Yanfang Wang, Zihan Chen, Tak Yeung Leung, Jacqueline Pui Wah Chung,[...]. Hum Genet 2020
16
2
13

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.
Lauren E Westerfield, Samantha R Stover, Veena S Mathur, Salma A Nassef, Tiffiney G Carter, Yaping Yang, Christine M Eng, Ignatia B Van den Veyver. Prenat Diagn 2015
33
2
13

Genetics professionals' attitudes toward prenatal exome sequencing.
Casey E Brew, Brian A Castro, Vivian Pan, Alexa Hart, Bruce Blumberg, Catherine Wicklund. J Genet Couns 2019
9
2
22

Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting.
Swetha Narayanan, Bruce Blumberg, Marla L Clayman, Vivian Pan, Catherine Wicklund. J Genet Couns 2018
9
2
22

Prenatal whole-exome sequencing: parental attitudes.
Eve J Kalynchuk, Andrew Althouse, Lisa S Parker, Devereux N Saller, Aleksandar Rajkovic. Prenat Diagn 2015
39
2
13

Parental perceptions of prenatal whole exome sequencing (PPPWES) study.
Karen Wou, Talia Weitz, Clare McCormack, Julia Wynn, Erica Spiegel, Jessica Giordano, Ronald J Wapner, Wendy K Chung. Prenat Diagn 2018
16
2
13

Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.
Stacy M Yadava, Elena Ashkinadze. J Genet Couns 2019
8
2
25

Infant mortality: the contribution of genetic disorders.
Monica H Wojcik, Talia S Schwartz, Katri E Thiele, Heather Paterson, Rachel Stadelmaier, Thomas E Mullen, Grace E VanNoy, Casie A Genetti, Jill A Madden, Cynthia S Gubbels,[...]. J Perinatol 2019
15
2
13

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly,[...]. Genet Med 2017
92
2
13

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Teresa N Sparks, Billie R Lianoglou, Rebecca R Adami, Ilina D Pluym, Kerry Holliman, Jennifer Duffy, Sarah L Downum, Sachi Patel, Amanda Faubel, Nina M Boe,[...]. N Engl J Med 2020
40
2
13

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C Gunning, Hana Lango Allen,[...]. Prenat Diagn 2018
41
2
13

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola. Genet Med 2017
73
2
13


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.

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