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European Journal of Human Genetics (9)
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Showing 1–23 of 23 results

Advanced filters: Author: Marc Clausen Clear advanced filters

Author Correction: Ribonucleotide incorporation into mitochondrial DNA drives inflammation

Amir Bahat
Dusanka Milenkovic
Thomas Langer
Amendments and CorrectionsOpen Access03 Oct 2025
Nature

Volume: 646, P: E31
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of babies.

Sebastian Lunke
Lilian Downie
Zornitza Stark
ResearchOpen Access09 Oct 2025
Nature Medicine

Volume: 31, P: 4236-4245
Ribonucleotide incorporation into mitochondrial DNA drives inflammation

Imbalanced nucleotide metabolism leads to age- and mtDNA-dependent inflammatory responses and senescence-associated secretory phenotype in senescence.

Amir Bahat
Dusanka Milenkovic
Thomas Langer
ResearchOpen Access24 Sept 2025
Nature

Volume: 647, P: 726-734
Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium

Kirsten M. Farncombe
Julia A. Sobotka
Raymond H. Kim
ReviewsOpen Access29 Jan 2026
European Journal of Human Genetics

P: 1-11
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
Erratum: Reappraising the effects of artemisinin on the ATPase activity of PfATP6 and SERCA1a E255L expressed in Xenopus laevis oocytes

Stéphanie David-Bosne
Michael Voldsgaard Clausen
Marc le Maire
Amendments and Corrections05 Apr 2016
Nature Structural & Molecular Biology

Volume: 23, P: 358
An allosteric pan-TEAD inhibitor blocks oncogenic YAP/TAZ signaling and overcomes KRAS G12C inhibitor resistance

Hagenbeek et al. identify a small-molecule pan-TEAD inhibitor that blocks the interaction between YAP/TAZ and TEAD proteins. They demonstrate that treatment with the inhibitor leads to antitumor activity and can synergize with KRAS G12C inhibition.

Thijs J. Hagenbeek
Jason R. Zbieg
Anwesha Dey
ResearchOpen Access05 Jun 2023
Nature Cancer

Volume: 4, P: 812-828
Parents’ attitudes towards research involving genome sequencing of their healthy children: a qualitative study

Christina Di Carlo
Chloe Mighton
Yvonne Bombard
Research20 Oct 2023
European Journal of Human Genetics

Volume: 32, P: 171-175
Primary care provider perspectives on using genomic sequencing in the care of healthy children

Esha Joshi
Chloe Mighton
Yvonne Bombard
Research05 Dec 2019
European Journal of Human Genetics

Volume: 28, P: 551-557
Quality of life drives patients’ preferences for secondary findings from genomic sequencing

Chloe Mighton
Lindsay Carlsson
Kevin E. Thorpe
Research18 May 2020
European Journal of Human Genetics

Volume: 28, P: 1178-1186
Interval training program on a wheelchair ergometer for paraplegic subjects

N Tordi
B Dugue
J Lonsdorfer
Research19 Oct 2001
Spinal Cord

Volume: 39, P: 532-537
Reappraising the effects of artemisinin on the ATPase activity of PfATP6 and SERCA1a E255L expressed in Xenopus laevis oocytes

Stéphanie David-Bosne
Michael Voldsgaard Clausen
Marc le Maire
Correspondence06 Jan 2016
Nature Structural & Molecular Biology

Volume: 23, P: 1-2
X-ray driven and intrinsic dynamics in protein gels

Sonja Timmermann
Nimmi Das Anthuparambil
Christian Gutt
ResearchOpen Access08 Jul 2023
Scientific Reports

Volume: 13, P: 1-13
The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services

Saumeh Saeedi
Daena Hirijkaka
Wendy J. Ungar
Research30 May 2025
European Journal of Human Genetics

Volume: 33, P: 1188-1193
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

Yvonne Bombard
Marc Clausen
Kevin E. Thorpe
Research11 Dec 2019
Genetics in Medicine

Volume: 22, P: 727-735
Induction of apoptosis in Mv1Lu cells by expression of competitive RB1 mutants

Laura L Whitaker
Marc F Hansen
Research28 Aug 1997
Oncogene

Volume: 15, P: 1069-1077
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening

Ella Adi-Wauran
Marc Clausen
Yvonne Bombard
Research11 Oct 2023
European Journal of Human Genetics

Volume: 32, P: 176-181
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care

Salma Shickh
Sara A. Rafferty
Kevin E. Thorpe
Research02 Mar 2021
Genetics in Medicine

Volume: 23, P: 1086-1094
Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings

Agnes Sebastian
June C. Carroll
Yvonne Bombard
Research29 Mar 2021
European Journal of Human Genetics

Volume: 30, P: 595-603
Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment

Shan Jiang
Aslam H. Anis
Dean A. Regier
Research21 Aug 2020
Genetics in Medicine

Volume: 22, P: 2011-2019
Development of patient “profiles” to tailor counseling for incidental genomic sequencing results

Chloe Mighton
Lindsay Carlsson
Kevin Thorpe
Research08 Mar 2019
European Journal of Human Genetics

Volume: 27, P: 1008-1017
The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

Yvonne Bombard
Marc Clausen
Andreas Laupacis
Research27 Apr 2018
European Journal of Human Genetics

Volume: 26, P: 984-995
New clinical and biological insights from the international TARGIT-A randomised trial of targeted intraoperative radiotherapy during lumpectomy for breast cancer

Jayant S. Vaidya
Max Bulsara
Jeffrey S. Tobias
ResearchOpen Access25 May 2021
British Journal of Cancer

Volume: 125, P: 380-389

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Author Correction: Ribonucleotide incorporation into mitochondrial DNA drives inflammation

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

Ribonucleotide incorporation into mitochondrial DNA drives inflammation

Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium

A second update on mapping the human genetic architecture of COVID-19

Erratum: Reappraising the effects of artemisinin on the ATPase activity of PfATP6 and SERCA1a E255L expressed in Xenopus laevis oocytes

An allosteric pan-TEAD inhibitor blocks oncogenic YAP/TAZ signaling and overcomes KRAS G12C inhibitor resistance

Parents’ attitudes towards research involving genome sequencing of their healthy children: a qualitative study

Primary care provider perspectives on using genomic sequencing in the care of healthy children

Quality of life drives patients’ preferences for secondary findings from genomic sequencing

Interval training program on a wheelchair ergometer for paraplegic subjects

Reappraising the effects of artemisinin on the ATPase activity of PfATP6 and SERCA1a E255L expressed in Xenopus laevis oocytes

X-ray driven and intrinsic dynamics in protein gels

The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

Induction of apoptosis in Mv1Lu cells by expression of competitive RB1 mutants

“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care

Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings

Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment

Development of patient “profiles” to tailor counseling for incidental genomic sequencing results

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

New clinical and biological insights from the international TARGIT-A randomised trial of targeted intraoperative radiotherapy during lumpectomy for breast cancer

Search

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