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Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
Shan Dan, Yuan Yuan, Yaoshen Wang, Chao Chen, Changxin Gao, Song Yu, Yan Liu, Wei Song, Asan, Hongmei Zhu, Ling Yang, Hongmei Deng, Yue Su, Xin Yi. PLoS One 2016
Times Cited: 10






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



Times Cited
  Times     Co-cited
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Presence of fetal DNA in maternal plasma and serum.
Y M Lo, N Corbetta, P F Chamberlain, V Rai, I L Sargent, C W Redman, J S Wainscoat. Lancet 1997
1819
6
60

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Lyn S Chitty, Sarah Mason, Angela N Barrett, Fiona McKay, Nicholas Lench, Rebecca Daley, Lucy A Jenkins. Prenat Diagn 2015
92
5
50

Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma.
Eric Wang, Annette Batey, Craig Struble, Thomas Musci, Ken Song, Arnold Oliphant. Prenat Diagn 2013
224
4
40

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.
Talitha I Verhoef, Melissa Hill, Suzanne Drury, Sarah Mason, Lucy Jenkins, Stephen Morris, Lyn S Chitty. Prenat Diagn 2016
30
3
30

Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.
George Koumbaris, Elena Kypri, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Maria Neofytou, Voula Velissariou, Georgia Christopoulou, Ioannis Kallikas, Alicia González-Liñán,[...]. Clin Chem 2016
31
3
30

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples.
Kristian Cibulskis, Michael S Lawrence, Scott L Carter, Andrey Sivachenko, David Jaffe, Carrie Sougnez, Stacey Gabriel, Matthew Meyerson, Eric S Lander, Gad Getz. Nat Biotechnol 2013
2607
3
30

Development of a comprehensive noninvasive prenatal test.
Carolina Malcher, Guilherme L Yamamoto, Philip Burnham, Suzana A M Ezquina, Naila C V Lourenço, Sahilla Balkassmi, David S Marco Antonio, Gabriella S P Hsia, Thomaz Gollop, Rita C Pavanello,[...]. Genet Mol Biol 2018
7
3
42

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Jinglan Zhang, Jianli Li, Jennifer B Saucier, Yanming Feng, Yanjun Jiang, Jefferson Sinson, Anne K McCombs, Eric S Schmitt, Sandra Peacock, Stella Chen,[...]. Nat Med 2019
85
3
30

Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.
Sara Perlado, Ana Bustamante-Aragonés, Marta Donas, Isabel Lorda-Sánchez, Javier Plaza, Marta Rodríguez de Alba. PLoS One 2016
24
2
20

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.
Felix C K Wong, Y M Dennis Lo. Annu Rev Med 2016
61
2
20

Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.
Michael Parks, Samantha Court, Siobhan Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen. Prenat Diagn 2016
42
2
20

Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.
Chandni V Jain, Leena Kadam, Marie van Dijk, Hamid-Reza Kohan-Ghadr, Brian A Kilburn, Craig Hartman, Vicki Mazzorana, Allerdien Visser, Michael Hertz, Alan D Bolnick,[...]. Sci Transl Med 2016
27
2
20

Cervical trophoblasts for non-invasive single-cell genotyping and prenatal diagnosis.
I Pfeifer, A Benachi, A Saker, J P Bonnefont, H Mouawia, L Broncy, R Frydman, M L Brival, B Lacour, R Dachez,[...]. Placenta 2016
21
2
20

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).
Weigang Lv, Xianda Wei, Ruolan Guo, Qin Liu, Yu Zheng, Jiazhen Chang, Ting Bai, Haoxian Li, Jianguang Zhang, Zhuo Song,[...]. Clin Chem 2015
54
2
20

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Lucie Orhant, Olivia Anselem, Mélanie Fradin, Pierre Hadrien Becker, Caroline Beugnet, Nathalie Deburgrave, Gilles Tafuri, Franck Letourneur, François Goffinet, Laïla Allach El Khattabi,[...]. Prenat Diagn 2016
26
2
20

Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.
Seong-Keun Yoo, Byung Chan Lim, Jiyoung Byeun, Hee Hwang, Ki Joong Kim, Yong Seung Hwang, JoonHo Lee, Joong Shin Park, Yong-Sun Lee, Junghyun Namkung,[...]. Clin Chem 2015
30
2
20

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.
Yan Xu, Xuchao Li, Hui-Juan Ge, Bing Xiao, Yan-Yan Zhang, Xiao-Min Ying, Xiao-Yu Pan, Lei Wang, Wei-Wei Xie, Lin Ni,[...]. Genet Med 2015
46
2
20

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
David A Zeevi, Gheona Altarescu, Ariella Weinberg-Shukron, Fouad Zahdeh, Tama Dinur, Gaya Chicco, Yair Herskovitz, Paul Renbaum, Deborah Elstein, Ephrat Levy-Lahad,[...]. J Clin Invest 2015
17
2
20

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.
Andrew B Sparks, Craig A Struble, Eric T Wang, Ken Song, Arnold Oliphant. Am J Obstet Gynecol 2012
259
2
20

Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy.
Andrew B Sparks, Eric T Wang, Craig A Struble, Wade Barrett, Renee Stokowski, Celeste McBride, Jacob Zahn, Kevin Lee, Naiping Shen, Jigna Doshi,[...]. Prenat Diagn 2012
180
2
20

Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles.
Gary J W Liao, Fiona M F Lun, Yama W L Zheng, K C Allen Chan, Tak Y Leung, Tze K Lau, Rossa W K Chiu, Y M Dennis Lo. Clin Chem 2011
90
2
20

Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.
Kathryn S Milks, Lyndon M Hill, Keyanoosh Hosseinzadeh. Pediatr Radiol 2017
23
2
20

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.
Y M Lo, M S Tein, T K Lau, C J Haines, T N Leung, P M Poon, J S Wainscoat, P J Johnson, A M Chang, N M Hjelm. Am J Hum Genet 1998
1162
2
20

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease.
C Michael Osborne, Emily Hardisty, Patricia Devers, Kathleen Kaiser-Rogers, Melissa A Hayden, William Goodnight, Neeta L Vora. Prenat Diagn 2013
127
2
20

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.
Maria I New, Yu K Tong, Tony Yuen, Peiyong Jiang, Christian Pina, K C Allen Chan, Ahmed Khattab, Gary J W Liao, Mabel Yau, Se-Min Kim,[...]. J Clin Endocrinol Metab 2014
132
2
20

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.
Francesca R Grati, Francesca Malvestiti, Jose C P B Ferreira, Komal Bajaj, Elisa Gaetani, Cristina Agrati, Beatrice Grimi, Francesca Dulcetti, Anna M Ruggeri, Simona De Toffol,[...]. Genet Med 2014
119
2
20

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.
H Christina Fan, Yair J Blumenfeld, Usha Chitkara, Louanne Hudgins, Stephen R Quake. Proc Natl Acad Sci U S A 2008
670
2
20

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.
Mary E Norton, Herb Brar, Jonathan Weiss, Ardeshir Karimi, Louise C Laurent, Aaron B Caughey, M Hellen Rodriguez, John Williams, Michael E Mitchell, Charles D Adair,[...]. Am J Obstet Gynecol 2012
357
2
20

Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.
Bernhard Zimmermann, Matthew Hill, George Gemelos, Zachary Demko, Milena Banjevic, Johan Baner, Allison Ryan, Styrmir Sigurjonsson, Nikhil Chopra, Michael Dodd,[...]. Prenat Diagn 2012
196
2
20

Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.
M M Gil, M S Quezada, R Revello, R Akolekar, K H Nicolaides. Ultrasound Obstet Gynecol 2015
308
2
20

The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
26883
2
20

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.
Nancy B Y Tsui, Rezan A Kadir, K C Allen Chan, Claudia Chi, Gillian Mellars, Edward G Tuddenham, Tak Y Leung, Tze K Lau, Rossa W K Chiu, Y M Dennis Lo. Blood 2011
156
2
20

Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants.
Roy B Lefkowitz, John A Tynan, Tong Liu, Yijin Wu, Amin R Mazloom, Eyad Almasri, Grant Hogg, Vach Angkachatchai, Chen Zhao, Daniel S Grosu,[...]. Am J Obstet Gynecol 2016
93
2
20

Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes.
Brian L Shaffer, Mary E Norton. Obstet Gynecol Clin North Am 2018
11
2
20

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
Anthony R Gregg, Brian G Skotko, Judith L Benkendorf, Kristin G Monaghan, Komal Bajaj, Robert G Best, Susan Klugman, Michael S Watson. Genet Med 2016
332
2
20

Cell-free DNA screening in clinical practice: abnormal autosomal aneuploidy and microdeletion results.
Stephanie G Valderramos, Rashmi R Rao, Emily W Scibetta, Neil S Silverman, Christina S Han, Lawrence D Platt. Am J Obstet Gynecol 2016
24
2
20

Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.
M M Gil, V Accurti, B Santacruz, M N Plana, K H Nicolaides. Ultrasound Obstet Gynecol 2017
276
2
20

Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.
Cecilia Götherström, Magnus Westgren, S W Steven Shaw, Eva Aström, Arijit Biswas, Peter H Byers, Citra N Z Mattar, Gail E Graham, Jahan Taslimi, Uwe Ewald,[...]. Stem Cells Transl Med 2014
107
2
20

Non-invasive prenatal testing: a review of international implementation and challenges.
Megan Allyse, Mollie A Minear, Elisa Berson, Shilpa Sridhar, Margaret Rote, Anthony Hung, Subhashini Chandrasekharan. Int J Womens Health 2015
157
2
20

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.
Lyn S Chitty, David Wright, Melissa Hill, Talitha I Verhoef, Rebecca Daley, Celine Lewis, Sarah Mason, Fiona McKay, Lucy Jenkins, Abigail Howarth,[...]. BMJ 2016
95
2
20

Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern?
Trilochan Sahoo, Karine Hovanes, Michelle N Strecker, Natasa Dzidic, Sara Commander, Mary K Travis. Genet Med 2016
14
2
20

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma.
Rossa W K Chiu, K C Allen Chan, Yuan Gao, Virginia Y M Lau, Wenli Zheng, Tak Y Leung, Chris H F Foo, Bin Xie, Nancy B Y Tsui, Fiona M F Lun,[...]. Proc Natl Acad Sci U S A 2008
575
2
20

Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis.
R Akolekar, J Beta, G Picciarelli, C Ogilvie, F D'Antonio. Ultrasound Obstet Gynecol 2015
339
2
20

Non-invasive prenatal diagnosis of thalassemias using maternal plasma cell free DNA.
Irena Hudecova, Rossa W K Chiu. Best Pract Res Clin Obstet Gynaecol 2017
25
2
20

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.
Kitty K Lo, Evangelia Karampetsou, Christopher Boustred, Fiona McKay, Sarah Mason, Melissa Hill, Vincent Plagnol, Lyn S Chitty. Am J Hum Genet 2016
73
2
20

Decisional conflict and regret: shared decision-making about pregnancy affected by β-thalassemia major in Southeast of Iran.
Zahra Moudi, Zenab Phanodi, Hossein Ansari, Mostafa Montazer Zohour. J Hum Genet 2018
5
2
40

Genetic evaluation of suspected osteogenesis imperfecta (OI).
Peter H Byers, Deborah Krakow, Mark E Nunes, Melanie Pepin. Genet Med 2006
42
2
20

Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing.
Xiuju Yin, Yang Du, Han Zhang, Zhandong Wang, Juan Wang, Xinxin Fu, Yaoyao Cui, Chongjian Chen, Junbin Liang, Zhaoling Xuan,[...]. J Hum Genet 2018
11
2
20

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
F S Van Dijk, D O Sillence. Am J Med Genet A 2014
320
2
20

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Joan C Marini, Antonella Forlino, Wayne A Cabral, Aileen M Barnes, James D San Antonio, Sarah Milgrom, James C Hyland, Jarmo Körkkö, Darwin J Prockop, Anne De Paepe,[...]. Hum Mutat 2007
443
2
20


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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