Martina C. Cornel - Publications, H-index & Citations

Back

Martina C. Cornel

vrije universiteit

55H-index

488Paper Count

1.1WCitation Count

Published Papers 127

Publication Date

From evidence to implementation: key priorities for pharmacogenomics-guided treatment and prevention from a European expert workshop

European Journal of Human Genetics

IF4.6

2026-05-28

OAAI

Loes Lindiwe Kreeftenberg; Lidewij Henneman; Tessel Rigter; Angelica Valz Gris; Adrián LLerena; John H. McDermott; Maureen Rutten-van Mölken; Astrid Moura Vicente; Ron H. N. van Schaik; Videha Sharma; Jesse J. Swen; Martina C. Cornel; Carla G. van El

Save

Towards responsible genome-wide screening: normative and stakeholder considerations

European Journal of Human Genetics

IF4.6

2026-05-22

OAAI

Corrette Ploem; Guido de Wert; Sara Soriano Longarón; Jacobien Niebuur; Imke Christiaans; Erwin Birnie; Lidewij Henneman; Tessel Rigter; Martina Cornel; Daphne Stemkens; Helger Yntema; Sanne Van der Hout; Mirjam Plantinga

Save

From targeted to genome-wide DNA testing in public health screening programs—an introduction to the special issue of the European Journal of Human Genetics

European Journal of Human Genetics

IF4.6

2026-03-03

OAAI

Martina C. Cornel; Saskia Smits; Belinda Dawson-McClaren

Save

Navigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users

European Journal of Human Genetics

IF4.6

2026-02-04

OAAI

Danny Bruins; Esther A. M. Bührman; Martina C. Cornel; Marc H. W. van Mil; Margreet G. E. M. Ausems; Olga C. Damman; Tessel Rigter

Save

Incidental genomic findings in large scale research: using the “3-I framework” to reveal policy considerations

Frontiers in Genetics

IF2.8

2026-01-26

OAAI

Suzanne Maria Onstwedder; Carla Van El; Wendy Rodenburg; Adrian Thorogood; Martina Cornelia Cornel; Tessel Rigter

Save

A qualitative study among guideline developers revealed challenges and strategies for rare disease guideline development

Journal of Clinical Epidemiology

IF5.2

2025-11-07

OAAI

Mirthe J. Klein Haneveld; Willemijn F.E. Irvine; Martina C. Cornel; Federico Germini; Miranda W. Langendam; Holger J. Schünemann; Johanna H. Van der Lee; Agnies M. Van Eeghen; Charlotte M.W. Gaasterland

Save

Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials

Molecular Genetics and Metabolism

IF3.5

2025-10-30

PREAI

Bibiche den Hollander; Marieke Rothuizen-Lindenschot; Hoang Lan Le; Jennifer R. Ramautar; Annelieke R. Müller; Lisa Geertjens; Frédéric M. Vaz; Agnies M. van Eeghen; Martina C. Cornel; Bart A.W. Jacobs; Hilgo Bruining; Peter M. van de Ven; Marion M. Brands; Clara D. van Karnebeek

Save

DNA based screening in prevention: current practise and future promise

EUROPEAN JOURNAL OF PUBLIC HEALTH

IF3.9

2025-10-01

PREAI

Cornel, M.

Save

Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs

Genetics in Medicine

IF6.2

2025-09-29

PREAI

Annelieke R. Müller; Bibiche den Hollander; Agnies M. van Eeghen; Peter M. van de Ven; Martina Cornel; Mieke van Haelst; Jan J. Sprengers; Hilgo Bruining; Marion M. Brands; Clara D. van Karnebeek

Save

Emerging and evolving values in the changing landscape of genomics

FRONTIERS IN GENETICS

IF2.8

2025-04-25

OAAI

Siermann, Maria; Mohan, Riya; Bunnik, Eline M.; Cambon-Thomsen, Anne; Chadwick, Ruth; Cornel, Martina C.; van Delden, Johannes J. M.; Joly, Yann; Molnar-Gabor, Fruzsina; Jimenez, Maria Pilar Nicolas; Pinxten, Wim; Rial-Sebbag, Emmanuelle; Shabani, Mahsa; Van Steijvoort, Eva; Wallace, Susan E.; Zawati, Ma'n H.; Knoppers, Bartha Maria; Borry, Pascal

Save

'We are the engine': a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2025-04-10

OAAI

Haneveld, Mirthe Jasmijn Klein; de Mortier, Chloe Aymee; Hugon, Anne; Cornel, Martina Cornelia; Gaasterland, Charlotte Maria Wilhelmina; van Eeghen, Agnies Marguerite

Save

SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-03-01

PREAI

van Karnebeek, Clara D. M.; Muller, Annelieke R.; Benkemoun, Laura; Boussaad, Ibrahim; Cornel, Martina C.; Inthout, Joanna; de Kort, Martin; Martins, Sofia de Oliveira; Prigione, Alessandro; Rigter, Tessel; Roes, Kit C. B.; Sanchez, Anna; Schipper, Raymond; Wilkinson, Mark D.; 't Hoen, Peter A. C.

Save

A decade of public engagement regarding human germline gene editing: a systematic scoping review

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-11-28

OAAI

Geuverink, Wendy P.; Houtman, Diewertje; Retel Helmrich, Isabel R. A.; Kist, Joosje D.; Henneman, Lidewij; Cornel, Martina C.; Riedijk, Sam R.

Save

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-09-16

OAAI

Muller, Annelieke R.; Boot, Erik; Notermans, Stijn B.; Schuengel, Carlo; Henneman, Lidewij; Cornel, Martina C.; van Haelst, Mieke M.; Alders, Marielle; van Karnebeek, Clara D. M.; Bijl, Bas; Wijburg, Frits A.; van Eeghen, Agnies M.

Save

Engagement of patients and the public in personalised prevention in Europe using genomic information: a scoping review

FRONTIERS IN PUBLIC HEALTH

IF3.4

2024-09-12

OAAI

Kreeftenberg, Loes Lindiwe; Henneman, Lidewij; Ket, Johannes C. F.; Cornel, Martina C.; van El, Carla G.

Save

The impact of counselors' values and religious beliefs on their role identity and perspectives on heritable genome editing: a qualitative interview study

HUMANITIES & SOCIAL SCIENCES COMMUNICATIONS

IF3.6

2024-08-22

OAAI

Geuverink, Wendy P.; Gitsels, Janneke T.; Cornel, Martina C.; Peerbolte, Bert Jan Lietaert; Prinds, Christina; van El, Carla G.; Martin, Linda

Save

Policy Guidance for Direct-to-Consumer Genetic Testing Services:Framework Development Study

JOURNAL OF MEDICAL INTERNET RESEARCH

IF6

2024-07-17

PREAI

Onstwedder, Suzanne Maria; Jansen, Marleen Elizabeth; Cornel, Martina Cornelia; Rigter, Tessel

Save

Perceptions of reproductive healthcare providers regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study

REPRODUCTIVE BIOMEDICINE ONLINE

IF3.5

2024-07-01

OAAI

Klein, David; van Dijke, Ivy; van Langen, Irene M.; Dondorp, Wybo; Lakeman, Phillis; Henneman, Lidewij; Cornel, Martina C.

Save

Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II

GENETICS IN MEDICINE

IF6.2

2024-04-01

OAAI

Haneveld, Mirthe J. Klein; Hieltjes, Imeze J.; Langendam, Miranda W.; Cornel, Martina C.; Gaasterland, Charlotte M. W.; Van Eeghen, Agnies M.

Save

Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?

GENETICS IN MEDICINE

IF6.2

2024-02-01

OAAI

Friedman, Jan M.; Bombard, Yvonne; Carleton, Bruce; Issa, Amalia M.; Knoppers, Bartha; Plon, Sharon E.; Rahimzadeh, Vasiliki; V. Relling, Mary; Williams, Marc S.; van Karnebeek, Clara; Vears, Danya; Cornel, Martina C.

Save

Research Directions