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European Journal of Human Genetics (40)
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Showing 1–50 of 55 results

Advanced filters: Author: Anneke Lucassen Clear advanced filters

Reply to “Insulin expression: is VNTR allele 698 really anomalous?”

Simon T. Bennett
Anneke M. Lucassen
Stephen C. Bain
Correspondence01 Aug 1995
Nature Genetics

Volume: 10, P: 379-380
Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Claire Palles
Jean-Baptiste Cazier
Ian Tomlinson
Amendments and Corrections29 May 2013
Nature Genetics

Volume: 45, P: 713
Promises under pressure: the modest predictive power of polygenic risk scores

Rachel Horton
Malcolm Dunlop
Anneke Lucassen
Correspondence08 Jan 2026
European Journal of Human Genetics

P: 1-2
Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR

Anneke M. Lucassen
Cecile Julier
John I. Bell
Research01 Jul 1993
Nature Genetics

Volume: 4, P: 305-310
Glowing gels and pipettes aplenty: how do commercial stock image banks portray genetic tests?

Rachel Horton
Leah Boyle
Anneke Lucassen
ResearchOpen Access08 Dec 2023
European Journal of Human Genetics

Volume: 32, P: 456-460
What is the meaning of a ‘genomic result’ in the context of pregnancy?

Shiri Shkedi-Rafid
Rachel Horton
Anneke Lucassen
Research14 Sept 2020
European Journal of Human Genetics

Volume: 29, P: 225-230
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Ian Tomlinson and colleagues report the identification of germline variants in POLE and POLD1 that are susceptibility alleles for colorectal cancer. POLE and POLD1 encode DNA polymerases that function in DNA replication.

Claire Palles
Jean-Baptiste Cazier
Ian Tomlinson
Research23 Dec 2012
Nature Genetics

Volume: 45, P: 136-144
Immortal data: a qualitative exploration of patients’ understandings of genomic data

Kate Lyle
Susie Weller
Anneke Lucassen
ResearchOpen Access31 Mar 2023
European Journal of Human Genetics

Volume: 31, P: 681-686
Using a genetic test result in the care of family members: how does the duty of confidentiality apply?

Michael Parker
Anneke Lucassen
ResearchOpen Access27 Apr 2018
European Journal of Human Genetics

Volume: 26, P: 955-959
Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice

Shiri Shkedi-Rafid
Angela Fenwick
Anneke M Lucassen
ResearchOpen Access05 Nov 2014
European Journal of Human Genetics

Volume: 23, P: 1281-1285
Telemedicine uptake among Genetics Professionals in Europe: room for expansion

Ellen Otten
Erwin Birnie
Irene M Van Langen
Research22 Apr 2015
European Journal of Human Genetics

Volume: 24, P: 157-163
Confidentiality and serious harm in genetics – preserving the confidentiality of one patient and preventing harm to relatives

Anneke Lucassen
Michael Parker
Research12 Nov 2003
European Journal of Human Genetics

Volume: 12, P: 93-97
Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom

Daniele Carrieri
Sandi Dheensa
Susan E Kelly
ResearchOpen Access04 Jan 2017
European Journal of Human Genetics

Volume: 25, P: 275-279
Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care

Katherine Sahan
Lesley Turner
Anneke Lucassen
ResearchOpen Access23 May 2025
European Journal of Human Genetics

P: 1-6
Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications

Variants in mitochondrial DNA (mtDNA), which are detectable in whole-genome sequencing (WGS) data, can cause a wide range of phenotypes of varying severity. The authors call for a wider debate on the communication of uncertainties around mtDNA variants and the risks versus benefits of screening.

William L. Macken
Anneke M. Lucassen
Robert D. S. Pitceathly
Comments & Opinion28 May 2021
Nature Reviews Genetics

Volume: 22, P: 547-548
Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not

Gillian Crawford
Nicola Foulds
Anneke Lucassen
Research03 Oct 2013
Genetics in Medicine

Volume: 15, P: 896-899
Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research

Sandi Dheensa
Angela Fenwick
Anneke Lucassen
ReviewsOpen Access25 Jun 2015
Genetics in Medicine

Volume: 18, P: 290-301
Balancing the rights of the pre-symptomatic child to be found with the risk of harm to others from the screening process

Anneke Lucassen
Rachel Horton
Comments & OpinionOpen Access30 Aug 2024
European Journal of Human Genetics

Volume: 33, P: 156-157
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

Ian Tomlinson, Richard Houlston, Malcolm Dunlop and colleagues report results of a large genome-wide association study of colorectal cancer. They identify four new risk loci and suggest that many more loci of similar effect size are likely to exist.

Richard S Houlston
Jeremy Cheadle
Ian P M Tomlinson
Research24 Oct 2010
Nature Genetics

Volume: 42, P: 973-977
Erratum: Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Wybo Dondorp
Guido de Wert
Martina C Cornel
Amendments and Corrections15 Oct 2015
European Journal of Human Genetics

Volume: 23, P: 1592
A more fitting term in the incidental findings debate: one term does not fit all situations

Gillian Crawford
Angela Fenwick
Anneke Lucassen
Correspondence20 Nov 2013
European Journal of Human Genetics

Volume: 22, P: 957
Erratum: Responsible implementation of expanded carrier screening

Lidewij Henneman
Pascal Borry
Borut Peterlin
Amendments and Corrections12 Oct 2017
European Journal of Human Genetics

Volume: 25, P: 1291
Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom

Daniele Carrieri
Anneke M. Lucassen
Susan E. Kelly
ResearchOpen Access18 Feb 2016
Genetics in Medicine

Volume: 18, P: 876-881
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Ian PM Tomlinson
Emily Webb
Richard S Houlston
Research30 Mar 2008
Nature Genetics

Volume: 40, P: 623-630
BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

Bethany Torr
Christopher Jones
Clare Turnbull
ResearchOpen Access01 Oct 2024
British Journal of Cancer

Volume: 131, P: 1506-1515
The ethics of genomic medicine: redefining values and norms in the UK and France

Marie Gaille
Ruth Horn
Carine Vassy
ResearchOpen Access17 Jan 2021
European Journal of Human Genetics

Volume: 29, P: 780-788
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions

Erwin Birnie
Juliette Schuurmans
Adelita V. Ranchor
ResearchOpen Access10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1761-1768
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations

Wybo Dondorp
Guido de Wert
Martina C Cornel
ReviewsOpen Access01 Apr 2015
European Journal of Human Genetics

P: 1-3
A validated PROM in genetic counselling: the psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale

Jan S. Voorwinden
Mirjam Plantinga
Adelita V. Ranchor
Research25 Jan 2019
European Journal of Human Genetics

Volume: 27, P: 681-690
Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary

Jan S. Voorwinden
Mirjam Plantinga
Irene M. van Langen
Research27 Apr 2020
European Journal of Human Genetics

Volume: 28, P: 1187-1195
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe

Fabio Sirchia
Daniele Carrieri
Susan E. Kelly
Research23 Apr 2018
European Journal of Human Genetics

Volume: 26, P: 946-954
Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study

Lisa M. Ballard
Rachel H. Horton
Anneke M. Lucassen
Research09 Jan 2020
European Journal of Human Genetics

Volume: 28, P: 732-741
GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

Juliette Schuurmans
Erwin Birnie
Mirjam Plantinga
ResearchOpen Access30 Sept 2019
European Journal of Human Genetics

Volume: 28, P: 182-192
Genome sequencing in healthcare: understanding the UK general public’s views and implications for clinical practice

Lisa M. Ballard
Rachel H. Horton
Anneke M. Lucassen
Research16 Sept 2019
European Journal of Human Genetics

Volume: 28, P: 155-164
Feasibility of couple-based expanded carrier screening offered by general practitioners

Juliette Schuurmans
Erwin Birnie
Irene M. van Langen
ResearchOpen Access11 Feb 2019
European Journal of Human Genetics

Volume: 27, P: 691-700
Dilemma still not resolved

Anneke Lucassen
Michael Parker
Correspondence12 Jan 2005
European Journal of Human Genetics

Volume: 13, P: 399-400
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

Mirjam Plantinga
Erwin Birnie
Irene M van Langen
ResearchOpen Access11 May 2016
European Journal of Human Genetics

Volume: 24, P: 1417-1423
Deciphering the genetics of hereditary non-syndromic colorectal cancer

Eli Papaemmanuil
Luis Carvajal-Carmona
Ian Tomlinson
Research16 Jul 2008
European Journal of Human Genetics

Volume: 16, P: 1477-1486
Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

Jan S Voorwinden
Anne H Buitenhuis
Adelita V Ranchor
Research03 May 2017
European Journal of Human Genetics

Volume: 25, P: 793-800
Genetic professionals' reports of nondisclosure of genetic risk information within families

Angus Clarke
Martin Richards
Helen Stewart
Research16 Mar 2005
European Journal of Human Genetics

Volume: 13, P: 556-562
Recontacting in clinical practice: the views and expectations of patients in the United Kingdom

Daniele Carrieri
Sandi Dheensa
Susan E Kelly
ResearchOpen Access02 Aug 2017
European Journal of Human Genetics

Volume: 25, P: 1106-1112
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Florence Fellmann
Carla G. van El
Martina C. Cornel
ReviewsOpen Access24 Jun 2019
European Journal of Human Genetics

Volume: 27, P: 1763-1773
Genetic risk scores may compound rather than solve the issue of prostate cancer overdiagnosis

Rachel H. Horton
Malcolm G. Dunlop
Amit Sud
CorrespondenceOpen Access28 Nov 2022
British Journal of Cancer

Volume: 128, P: 1-2
Developing a policy for paediatric biobanks: principles for good practice

Kristien Hens
Carla E Van El
Kris Dierickx
ReviewsOpen Access20 Jun 2012
European Journal of Human Genetics

Volume: 21, P: 2-7
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Richard Houlston and colleagues report a genome-wide association study for colorectal cancer. They report three loci newly associated with colorectal cancer, bringing the total number of common susceptibility loci to 20.

Malcolm G Dunlop
Sara E Dobbins
Richard S Houlston
Research27 May 2012
Nature Genetics

Volume: 44, P: 770-776
Recontacting in clinical genetics and genomic medicine? We need to talk about it

Daniele Carrieri
Sandi Dheensa
Susan E Kelly
Correspondence08 Feb 2017
European Journal of Human Genetics

Volume: 25, P: 520-521
Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications

Marije A. van der Geest
Els L. M. Maeckelberghe
Mirjam Plantinga
ReviewsOpen Access14 Mar 2024
European Journal of Human Genetics

Volume: 32, P: 489-497
Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM)

Lisa Marie Ballard
Rebecca Band
Anneke M. Lucassen
ReviewsOpen Access21 Jun 2023
European Journal of Human Genetics

Volume: 31, P: 988-1002
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

Daniele Carrieri
Heidi C. Howard
Francesca Forzano
ReviewsOpen Access11 Oct 2018
European Journal of Human Genetics

Volume: 27, P: 169-182
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Wybo Dondorp
Guido de Wert
Martina C Cornel
ReviewsOpen Access18 Mar 2015
European Journal of Human Genetics

Volume: 23, P: 1438-1450

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