Most cited papers from PHG Foundation

PHG Foundation

What are the most cited papers from PHG Foundation?

The most cited paper from PHG Foundation is "The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes" (Bernard Pereira et al., 2016), with 1,834 citations. Next come "The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease" (1,429) and "Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families" (641).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 60 papers. Every paper with more than 49 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes Bernard Pereira et al. · Nature Communications Open access	10 May 2016	1,834
2	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease William John Astle et al. · Cell Open access	Nov 2016	1,429
3	Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families Paul D.P. Pharoah, Parry Guilford, Carlos H. Caldas · Gastroenterology Open access	Dec 2001	641
4	Risk models and scores for type 2 diabetes: systematic review Douglas James Noble, Rohini Mathur, Tom Dent et al. · BMJ ReviewOpen access	28 Nov 2011	563
5	Personalized early detection and prevention of breast cancer: ENVISION consensus statement Nora Pashayan et al. · Nature Reviews Clinical Oncology ReviewOpen access	18 Jun 2020	461
6	Freeze-drying of bioproducts: putting principles into practice Felix Franks · European Journal of Pharmaceutics and Biopharmaceutics	May 1998	458
7	Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps Polygenic Risk Score Task Force of the International Common Disease Alliance et al. · Nature Medicine Open access	Nov 2021	447
8	Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening on behalf of the European Society of Human Genetics (ESHG) and the American Soci et al. · European Journal of Human Genetics Open access	18 Mar 2015	356
9	Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis Hannah K. Blencowe, Vijaya Kancherla, Sowmiya A. Moorthie et al. · Annals of the New York Academy of Sciences Open access	24 Jan 2018	349
10	Responsible implementation of expanded carrier screening Lidewij Henneman, Pascal Borry, Davit Chokoshvili et al. · European Journal of Human Genetics Open access	16 Mar 2016	341
11	Recommendations for returning genomic incidental findings? We need to talk! Wylie Burke, Armand H. Matheny Antommaria, Robin L. Bennett et al. · Genetics in Medicine Open access	Aug 2013	293
12	The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis Caroline Fiona Wright, Harold W. Burton · Human Reproduction Update	22 Oct 2008	258
13	Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects Gurdeep Singh Sagoo, Adam S. Butterworth, Simon Sanderson et al. · Genetics in Medicine ReviewOpen access	Mar 2009	224
14	A Collaboratively-Derived Science-Policy Research Agenda William J. Sutherland et al. · PLoS ONE Open access	9 Mar 2012	222
15	Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics Antonis C. Antoniou, Rachel Hardy, Lyndon Walker et al. · Journal of Medical Genetics	15 Apr 2008	197
16	Next-generation sequencing in the clinic: are we ready? Leslie G. Biesecker, Wylie Burke, Isaac S. Kohane et al. · Nature Reviews Genetics ReviewOpen access	18 Oct 2012	167
17	Polygenic susceptibility to prostate and breast cancer: implications for personalised screening Nora Pashayan, Stephen William Duffy, Susmita Chowdhury et al. · British Journal of Cancer Open access	5 Apr 2011	166
18	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 E. Wright, Melissa K. Hill et al. · BMJ Open access	4 Jul 2016	150
19	Public health implications from COGS and potential for risk stratification and screening Hilary Burton, Susmita Chowdhury, Tom Dent et al. · Nature Genetics Open access	27 Mar 2013	135
20	Systematic Review and Meta-Analysis of the Birth Prevalence of Orofacial Clefts in Low- and Middle-Income Countries Ayesha Kadir, Peter Anthony Mossey, Matthias Orth et al. · The Cleft Palate-Craniofacial Journal Review	19 Jul 2016	131
21	’Personalized Medicine’: What’S in a Name? Anna Pokorska-Bocci, Alison Stewart, Gurdeep Singh Sagoo et al. · Personalized Medicine	Mar 2014	116
22	Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and “personalized” medicine? Wylie Burke, Hilary Burton, Alison Hall et al. · Genetics in Medicine Open access	16 Nov 2010	113
23	Systematic review of birth prevalence of neural tube defects in India Prajkta Bhide, Gurdeep Singh Sagoo, Sowmiya A. Moorthie et al. · Birth Defects Research Part A Clinical and Molecular Teratology Review	Jul 2013	111
24	Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Frauke Becker et al. · European Journal of Human Genetics Open access	17 Mar 2011	110
25	Identification of NTRK fusions in pediatric mesenchymal tumors Dean C. Pavlick, Alexa Betzig Schrock, Denise M. Malicki et al. · Pediatric Blood & Cancer	18 Jan 2017	107
26	Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease Heribert Schunkert, Emanuele Di Angelantonio, Michael Inouye et al. · European Heart Journal Open access	20 Sep 2024	97
27	Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia Sophie Hackinger, Bram Peter Prins, Vasiliki Mamakou et al. · Translational Psychiatry Open access	23 Nov 2018	95
28	Known unknowns: building an ethics of uncertainty into genomic medicine Ainsley Janelle Newson, Samantha J. Leonard, Alison Hall et al. · BMC Medical Genomics Open access	Sep 2016	94
29	Review of massively parallel DNA sequencing technologies Sowmiya A. Moorthie, Christopher Mattocks, Caroline Fiona Wright · The HUGO Journal Open access	26 Oct 2011	94
30	Mainstreaming Genetics: A Comparative Review of Clinical Services for Inherited Cardiovascular Conditions in the UK Harold W. Burton, Corinna Alberg, Alison Stewart · Public Health Genomics	2010	94
31	Incorporating genomics into breast and prostate cancer screening: assessing the implications Susmita Chowdhury, Tom Dent, Nora Pashayan et al. · Genetics in Medicine Open access	14 Feb 2013	93
32	Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing Caroline Fiona Wright, Lyn S. Chitty · BMJ	6 Jul 2009	86
33	Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide Congenital Disorders Expert Group et al. · Journal of Community Genetics Open access	14 Sep 2018	85
34	Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol Melissa K. Hill, David E. Wright, Rebecca Daley et al. · BMC Pregnancy and Childbirth Open access	16 Jul 2014	84
35	Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis Caroline Fiona Wright, Yinghui Wei, Julian P. T. Higgins et al. · BMC Research Notes Open access	Sep 2012	81
36	Circulating vitamin D, calcium and risk of cerebrovascular disease: a systematic review and meta-analysis Rajiv Chowdhury, Sarah Stevens, Heather A Ward et al. · European Journal of Epidemiology Review	Aug 2012	81
37	Return of individual research results from genomic research: A systematic review of stakeholder perspectives Danya F. Vears, Joel T. Minion, Stephanie J. Roberts et al. · PLoS ONE ReviewOpen access	8 Nov 2021	79
38	Systematic review and meta‐analysis to estimate the birth prevalence of five inherited metabolic diseases Sowmiya A. Moorthie, Louise Cameron, Gurdeep Singh Sagoo et al. · Journal of Inherited Metabolic Disease Review	14 Jul 2014	73
39	Developing Stakeholder Involvement for Introducing Public Health Genomics into Public Policy Harold W. Burton, Matthew Adams, Robin Bunton et al. · Public Health Genomics	3 Sep 2008	72
40	COPD in England: a comparison of expected, model-based prevalence and observed prevalence from general practice data Luís Nacul, Michael Soljak, Edgar Samarasundera et al. · Journal of Public Health	3 Jun 2010	69
41	Preconception Healthcare Delivery at a Population Level: Construction of Public Health Models of Preconception Care Geordan D. Shannon, Corinna Alberg, Luís Nacul et al. · Maternal and Child Health Journal	13 Nov 2013	67
42	Rare single gene disorders: estimating baseline prevalence and outcomes worldwide Congenital Disorders Expert Group, Hannah K. Blencowe, Sowmiya A. Moorthie et al. · Journal of Community Genetics Open access	14 Aug 2018	62
43	New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study Inga Plaskocinska et al. · Journal of Medical Genetics Open access	12 May 2016	62
44	Nuffield Council on Bioethics Report: Novel Techniques for the prevention of mitochondrial DNA disorders: an ethical review London: Nuffield Council of Bioethics 2012 Nina Hallowell · Genomics Society and Policy Open access	15 Sep 2012	62
45	Clinical Benefit in Response to Palbociclib Treatment in Refractory Uterine Leiomyosarcomas with a Common CDKN2A Alteration Julia Andrea Elvin, Laurie M. Gay, Rita Ort et al. · The Oncologist Open access	10 Mar 2017	61
46	Implementing risk-stratified screening for common cancers: a review of potential ethical, legal and social issues Alison Hall, Susmita Chowdhury, Nina Hallowell et al. · Journal of Public Health Open access	28 Aug 2013	61
47	Will Genomics Widen or Help Heal the Schism Between Medicine and Public Health? Muin J. Khoury, MARTA L. GWINN, Wylie Burke et al. · American Journal of Preventive Medicine	20 Sep 2007	60
48	Regulating direct-to-consumer genetic tests: What is all the fuss about? Caroline Fiona Wright, Alison Hall, Ron L. Zimmern · Genetics in Medicine Open access	Oct 2010	59
49	Final efficacy results from B-F1RST, a prospective phase II trial evaluating blood-based tumour mutational burden (bTMB) as a predictive biomarker for atezolizumab (atezo) in 1L non-small cell lung cancer (NSCLC) Mark A. Socinski, Vamsidhar Velcheti, Tarek M. Mekhail et al. · Annals of Oncology Open access	Oct 2019	58
50	Policy challenges of clinical genome sequencing Caroline Fiona Wright, Anna Middleton, Harold W. Burton et al. · BMJ	22 Nov 2013	58

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.