Most cited papers from Sequenom (United States)

Sequenom (United States)

What are the most cited papers from Sequenom (United States)?

The most cited paper from Sequenom (United States) is "The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments" (Stephen Andrew Bustin, Vladimı́r Beneš, Jeremy A. Garson et al., 2009), with 16,583 citations. Next come "Complement Factor H Polymorphism and Age-Related Macular Degeneration" (2,467) and "Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias" (1,784).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 60 papers. Every paper with more than 170 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments Stephen Andrew Bustin, Vladimı́r Beneš, Jeremy A. Garson et al. · Clinical Chemistry Open access	26 Feb 2009	16,583
2	Complement Factor H Polymorphism and Age-Related Macular Degeneration Albert O. Edwards, Robert Ritter, Kenneth J. Abel et al. · Science	10 Mar 2005	2,467
3	Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias Q. Wang, Mark E. Curran, Igor Splawski et al. · Nature Genetics	1996	1,784
4	Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis Ronald J. Wapner et al. · New England Journal of Medicine Open access	5 Dec 2012	1,439
5	The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21 Peter St George‐Hyslop et al. · Science	20 Feb 1987	1,163
6	Tobacco smoke carcinogens, DNA damage and p53 mutations in smoking-associated cancers Gerd P. Pfeifer, Mikhail F. Denissenko, Magali Olivier et al. · Oncogene	15 Oct 2002	1,134
7	Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus Yuk Ming Dennis Lo, K.C. Allen Chan, Hao Sun et al. · Science Translational Medicine	8 Dec 2010	1,125
8	Type I macrophage scavenger receptor contains α-helical and collagen-like coiled coils Tatsuhiko Kodama, Mason Wright Freeman, Lucia Rohrer et al. · Nature	Feb 1990	1,047
9	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 et al. · Proceedings of the National Academy of Sciences Open access	10 Dec 2008	960
10	Oct4-Induced Pluripotency in Adult Neural Stem Cells Jeong Beom Kim, Vittorio Sebastiano, Guangming Wu et al. · Cell Open access	Feb 2009	949
11	DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study Glenn E. Palomaki, Edward M. Kloza, Geralyn M. Lambert-Messerlian et al. · Genetics in Medicine Open access	15 Oct 2011	946
12	The Digital MIQE Guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments Jim F. Huggett, Carole A. Foy, Vladimı́r Beneš et al. · Clinical Chemistry Open access	9 Apr 2013	873
13	Role of the Dnmt3 family in de novo methylation of imprinted and repetitive sequences during male germ cell development in the mouse Yuzuru Kato, Masahiro Kaneda, Kenichiro Hata et al. · Human Molecular Genetics Open access	6 Jul 2007	539
14	Tyrosine phosphorylation regulates the biochemical and biological properties of pp60c-src Helen M. Piwnica-Worms, Kim B. Saunders, Thomas M. Roberts et al. · Cell	Apr 1987	539
15	DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study Glenn E. Palomaki, Cosmin Deciu, Edward M. Kloza et al. · Genetics in Medicine Open access	26 Jan 2012	522
16	Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting Mathias Ehrich, Cosmin Deciu, Tricia Zwiefelhofer et al. · American Journal of Obstetrics and Gynecology Open access	19 Feb 2011	475
17	Assuring the quality of next-generation sequencing in clinical laboratory practice Amy S. Gargis et al. · Nature Biotechnology Open access	Nov 2012	474
18	High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry Kenneth H. Buetow, Michael N. Edmonson, Richard MacDonald et al. · Proceedings of the National Academy of Sciences Open access	2 Jan 2001	460
19	A mutation in CFTR produces different phenotypes depending on chromosomal background Sandra Kiesewetter, Milan Maçek, Claire Davis et al. · Nature Genetics	Nov 1993	444
20	Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs Brenda K. Smith Richards, Joel Skoletsky, Anthony P. Shuber et al. · Human Molecular Genetics	1993	414
21	Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma Fiona M. F. Lun, Nancy B. Y. Tsui, K.C. Allen Chan et al. · Proceedings of the National Academy of Sciences Open access	5 Dec 2008	373
22	Preferential loss of striato‐external pallidal projection neurons in presymptomatic Huntington's disease Roger L. Albin, Anton Reiner, Keith D. Anderson et al. · Annals of Neurology Open access	Apr 1992	370
23	Whole-genome annotation by using evidence integration in functional-linkage networks Ulaş Karaöz, T. M. Murali, Stan Letovsky et al. · Proceedings of the National Academy of Sciences Open access	23 Feb 2004	322
24	Chip-based genotyping by mass spectrometry Kai Tang, Dong‐Jing Fu, Dominique Julien et al. · Proceedings of the National Academy of Sciences Open access	31 Aug 1999	287
25	Dnmt3b promotes tumorigenesis in vivo by gene-specific de novo methylation and transcriptional silencing Heinz Linhart, Haijiang Lin, Yasuhiro Yamada et al. · Genes & Development Open access	Dec 2007	275
26	Wnt inhibitory factor 1 is epigenetically silenced in human osteosarcoma, and targeted disruption accelerates osteosarcomagenesis in mice Maya Kansara, Michael Tsang, Laurent Kodjabachian et al. · Journal of Clinical Investigation Open access	19 Mar 2009	275
27	Role of ICAM1 in invasion of human breast cancer cells Caridad Rosette, Richard B. Roth, Paul A. Oeth et al. · Carcinogenesis	17 Mar 2005	270
28	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 Tszine Leach, Dawn M. Pekarek et al. · Genetics in Medicine Open access	7 Jan 2020	269
29	Hysteresis in a synthetic mammalian gene network Beat P. Kramer, Martin Fussenegger · Proceedings of the National Academy of Sciences Open access	22 Jun 2005	246
30	Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts Sung K. Kim, Gregory Hannum, Jennifer A. Geis et al. · Prenatal Diagnosis	12 May 2015	246
31	Automated Genotyping Using the DNA MassArray™ Technology Christian Jurinke, Dirk van den Boom, Charles R. Cantor et al. · Humana Press eBooks Book chapter	15 Nov 2003	244
32	Amplification of a hightly polymorphic VNTR segment by the polymerase chain reaction Glenn T. Horn, Brenda K. Smith Richards, Katherine Wood Klinger · Nucleic Acids Research Open access	1989	242
33	An N-Terminal transformation-governing sequence of SV40 large T antigen contributes to the binding of both p110 and a second cellular protein, p120 Mark E. Ewen, John W. Ludlow, Erika Marsilio et al. · Cell	Jul 1989	236
34	Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse Tim Wiltshire, Mathew T. Pletcher, Serge Batalov et al. · Proceedings of the National Academy of Sciences Open access	28 Feb 2003	231
35	Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics Anne Maddalena, Carolyn Sue Richards, Matthew Jerome McGinniss et al. · Genetics in Medicine Open access	May 2001	231
36	MALDI-TOF Mass Spectrometry : A Versatile Tool for High-Performance DNA Analysis Christian Jurinke, Paul A. Oeth, Dirk van den Boom · Molecular Biotechnology	2004	225
37	Electrostatic surface plasmon resonance: Direct electric field-induced hybridization and denaturation in monolayer nucleic acid films and label-free discrimination of base mismatches Richard J. Heaton, Alexander W. Peterson, Rosina M. Georgiadis · Proceedings of the National Academy of Sciences Open access	20 Mar 2001	222
38	Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8 Samuel E. Lux, William T. Tse, Joan C. Menninger et al. · Nature	Jun 1990	213
39	Function and Autoregulation of Yeast Copperthionein Dean H. Hamer, Dennis J. Thiele, Jeffrey E. Lemontt · Science	10 May 1985	213
40	The effect of protein context on nuclear location signal function Bruce Roberts, William David Richardson, Alan Edward Smith · Cell	Jul 1987	212
41	Clinical Validation of an Ultra High-Throughput Spiral Microfluidics for the Detection and Enrichment of Viable Circulating Tumor Cells Bee Luan Khoo, Majid Ebrahimi Warkiani, Daniel Shao-Weng Tan et al. · PLoS ONE Open access	7 Jul 2014	208
42	Plasminogen activator inhibitor type‐1 : reactive center and amino‐terminal heterogeneity determined by protein and cDNA sequencing P.A. Andreasen, Andrea Riccio, Karen Gjesing Welinder et al. · FEBS Letters	15 Dec 1986	208
43	Genetic Determinants of Cisplatin Resistance in Patients With Advanced Germ Cell Tumors Aditya Bagrodia et al. · Journal of Clinical Oncology Open access	20 Sep 2016	206
44	Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Brian E. Ward, Steven L. Gersen, Michael P. Carelli et al. · PubMed	May 1993	206
45	Plant NLR-triggered immunity: from receptor activation to downstream signaling Signe Lolle, Danielle M. Stevens, Gitta Coaker · Current Opinion in Immunology ReviewOpen access	17 Jan 2020	205
46	Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants Roy B. Lefkowitz, John A. Tynan, Tong Liu et al. · American Journal of Obstetrics and Gynecology Open access	17 Feb 2016	204
47	Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma Amin R. Mazloom, Željko Džakula, Paul A. Oeth et al. · Prenatal Diagnosis Open access	16 Apr 2013	203
48	Analysis of HLA-DP allelic sequence polymorphism using the in vitro enzymatic DNA amplification of DP- alpha and DP-beta loci. Teodorica L. Bugawan, G T Horn, C M Long et al. · The Journal of Immunology	Dec 1988	202
49	Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors Patricia L. Devers, Amy Cronister, Kelly E. Ormond et al. · Journal of Genetic Counseling Open access	21 Jan 2013	197
50	Molecular genetic approach to the characterization of the “Down syndrome region” of chromosome 21 Mark Ian McCormick, Albert Schinzel, Michael B. Petersen et al. · Genomics Open access	Aug 1989	195

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 an institution when any of its authors gave it as an affiliation; 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.