Most cited papers in Prenatal Screening and Diagnostics
What are the most cited papers in Prenatal Screening and Diagnostics?
The most cited paper in Prenatal Screening and Diagnostics is "Presence of fetal DNA in maternal plasma and serum" (Yuk Ming Dennis Lo, Noemi Corbetta, Paul F. Chamberlain et al., 1997), with 3,097 citations. Next come "Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies" (2,934) and "Strong Association of De Novo Copy Number Mutations with Autism" (2,862).
Showing 50 of 100 papers. Every paper with more than 827 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Presence of fetal DNA in maternal plasma and serum Yuk Ming Dennis Lo, Noemi Corbetta, Paul F. Chamberlain et al. · The Lancet | Aug 1997 | 3,097 |
| 2 | Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies David T. Miller et al. · The American Journal of Human Genetics | May 2010 | 2,934 |
| 3 | Strong Association of De Novo Copy Number Mutations with Autism Jonathan L. Sebat et al. · Science | 15 Mar 2007 | 2,862 |
| 4 | High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number Benjamin J. Hindson et al. · Analytical Chemistry | 28 Oct 2011 | 2,861 |
| 5 | To err (meiotically) is human: the genesis of human aneuploidy Terry J Hassold, Patricia A. Hunt · Nature Reviews Genetics | Apr 2001 | 2,528 |
| 6 | Genomic imprinting: parental influence on the genome Wolf Reik, Jörn Walter · Nature Reviews Genetics | 2001 | 2,301 |
| 7 | High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays Daniel Pinkel, Richard Segraves, Damir Sudar et al. · Nature Genetics | Oct 1998 | 2,262 |
| 8 | Blastocyst score affects implantation and pregnancy outcome: towards a single blastocyst transfer David K. Gardner, Michelle Lane, JOHN M. STEVENS et al. · Fertility and Sterility | Jun 2000 | 2,146 |
| 9 | Hematopoietic Reconstitution in a Patient with Fanconi's Anemia by Means of Umbilical-Cord Blood from an HLA-Identical Sibling ELIANE GLUCKMAN, HE Broxmeyer, Arleen D. Auerbach et al. · New England Journal of Medicine | 26 Oct 1989 | 2,113 |
| 10 | Global epidemiology of haemoglobin disorders and derived service indicators Bernadette Modell · Bulletin of the World Health Organization | Jun 2008 | 1,934 |
| 11 | Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine | 5 Nov 2019 | 1,854 |
| 12 | Large recurrent microdeletions associated with schizophrenia GROUP et al. · Nature | 30 Jul 2008 | 1,787 |
| 13 | Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene Adam C. Bell, Gary Felsenfeld · Nature | May 2000 | 1,782 |
| 14 | Cerebrovascular accidents in sickle cell disease: rates and risk factors. Kwaku Ohene‐Frempong, Steven J. Weiner, Lynn A. Sleeper et al. · PubMed | 1998 | 1,718 |
| 15 | Syncytin is a captive retroviral envelope protein involved in human placental morphogenesis Sha Mi, Xinhua Lee, Xiangping Li et al. · Nature | Feb 2000 | 1,686 |
| 16 | Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis Yuk Ming Dennis Lo, Mark Tein, Tze Kin Lau et al. · The American Journal of Human Genetics | Apr 1998 | 1,669 |
| 17 | CTCF: Master Weaver of the Genome Jennifer E. Phillips‐Cremins, Victor G. Corces · Cell | Jun 2009 | 1,636 |
| 18 | Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification Alan H. Handyside, Eleni H. Kontogianni, Kate Hardy et al. · Nature | Apr 1990 | 1,616 |
| 19 | ESHRE Guideline: management of women with premature ovarian insufficiency The ESHRE Guideline Group on POI, Lisa J. Webber, Melanie C. Davies et al. · Human Reproduction | 22 Mar 2016 | 1,603 |
| 20 | UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation RJM Snijders, P. L. Noble, Neil James Sebire et al. · The Lancet | Aug 1998 | 1,597 |
| 21 | CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus Amy T. Hark, Christopher J. Schoenherr, David John Katz et al. · Nature | May 2000 | 1,569 |
| 22 | Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin Matthew W. Snyder, Martin Kircher, Andrew J. Hill et al. · Cell | 2016 | 1,561 |
| 23 | Diet and the evolution of human amylase gene copy number variation George H. Perry, Nathaniel J. Dominy, Katrina G. Claw et al. · Nature Genetics | 9 Sep 2007 | 1,523 |
| 24 | Prader-Willi syndrome Suzanne B. Cassidy, Stuart H. Schwartz, Jennifer Lynne Miller et al. · Genetics in Medicine | 2012 | 1,473 |
| 25 | Human gene expression first occurs between the four- and eight-cell stages of preimplantation development Peter Braude, Virginia N. Bolton, Stephen D. Moore · Nature | Mar 1988 | 1,471 |
| 26 | Dnmt3L and the Establishment of Maternal Genomic Imprints Déborah Bourc’his, Guoliang Xu, Chyuan‐Sheng Lin et al. · Science | 21 Dec 2001 | 1,450 |
| 27 | Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis Ronald J. Wapner et al. · New England Journal of Medicine | 5 Dec 2012 | 1,439 |
| 28 | Genome-wide analysis of DNA copy-number changes using cDNA microarrays Jonathan R. Pollack, Charles M. Perou, Ash A. Alizadeh et al. · Nature Genetics | Sep 1999 | 1,433 |
| 29 | A CRITICAL EVALUATION OF SONAR “CROWN‐RUMP LENGTH” MEASUREMENTS Hugh P. Robinson, J. E. E. Fleming · BJOG An International Journal of Obstetrics & Gynaecology | Sep 1975 | 1,424 |
| 30 | Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting Masahiro Kaneda, Masaki Okano, Kenichiro Hata et al. · Nature | Jun 2004 | 1,407 |
| 31 | Sickle Cell Disease Frédéric B. Piel, Martin H. Steinberg, David C. Rees · New England Journal of Medicine | 19 Apr 2017 | 1,384 |
| 32 | Noninvasive Diagnosis by Doppler Ultrasonography of Fetal Anemia Due to Maternal Red-Cell Alloimmunization Giancarlo Mari, Russell L. Deter, Robert L. Carpenter et al. · New England Journal of Medicine | 6 Jan 2000 | 1,349 |
| 33 | UBE3A/E6-AP mutations cause Angelman syndrome Tatsuya Kishino, Marc Lalande, Joseph E. Wagstaff · Nature Genetics | 1997 | 1,340 |
| 34 | Down's syndrome Nancy Roizen, David W. Patterson · The Lancet | Apr 2003 | 1,335 |
| 35 | Prader-Willi Syndrome: Consensus Diagnostic Criteria Vanja A. Holm, Suzanne B. Cassidy, Merlin G. Butler et al. · PEDIATRICS | Feb 1993 | 1,299 |
| 36 | Effect of Corticosteroids for Fetal Maturation on Perinatal Outcomes Larry C. Gilstrap · JAMA | Feb 1995 | 1,288 |
| 37 | Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Diana W. Bianchi, GretchenK. Zickwolf, Gary J. Weil et al. · Proceedings of the National Academy of Sciences | 23 Jan 1996 | 1,275 |
| 38 | Karyotyping human chromosomes by combinatorial multi-fluor FISH Michael R. Speicher, Stephen Gwyn Ballard, David C. Ward · Nature Genetics | Apr 1996 | 1,273 |
| 39 | Genetic Conflicts in Human Pregnancy David Haig · The Quarterly Review of Biology | Dec 1993 | 1,266 |
| 40 | Identifying Personal Genomes by Surname Inference Melissa Gymrek, Amy L. McGuire, David E. Golan et al. · Science | 17 Jan 2013 | 1,257 |
| 41 | Parental imprinting of the mouse H19 gene Marisa S. Bartolomei, Sharon Zemel, Shirley M. Tilghman · Nature | May 1991 | 1,245 |
| 42 | Health Supervision for Children With Down Syndrome Marilyn J. Bull · PEDIATRICS | 26 Jul 2011 | 1,240 |
| 43 | Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L Déborah Bourc’his, Timothy H. Bestor · Nature | 18 Aug 2004 | 1,229 |
| 44 | Dynamic Reprogramming of DNA Methylation in the Early Mouse Embryo Fátima Santos, Brian Hendrich, Wolf Reik et al. · Developmental Biology | 2002 | 1,221 |
| 45 | Human umbilical cord blood as a potential source of transplantable hematopoietic stem/progenitor cells. H E Broxmeyer, G. W. Douglas, G Hangoc et al. · Proceedings of the National Academy of Sciences | May 1989 | 1,214 |
| 46 | Protein mapping by combined isoelectric focusing and electrophoresis of mouse tissues J. Klose · Human Genetics | Sep 1975 | 1,209 |
| 47 | Genomic imprinting in mammalian development: a parental tug-of-war Tom Moore · Trends in Genetics | Feb 1991 | 1,201 |
| 48 | Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark Johannes Nielsen, Mogens Wohlert · Human Genetics | 1991 | 1,198 |
| 49 | DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific Elmar W. Tobi, Lambert H. Lumey, Rudolf P. Talens et al. · Human Molecular Genetics | 4 Aug 2009 | 1,166 |
| 50 | Rapid Clearance of Fetal DNA from Maternal Plasma Yuk Ming Dennis Lo, Jun Zhang, Tse Ngong Leung et al. · The American Journal of Human Genetics | 1999 | 1,161 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.