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- 2023
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Mark
Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
(
- Contribution to journal › Letter
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Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2022
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Mark
The use of polygenic risk scores in pre-implantation genetic testing : an unproven, unethical practice
(
- Contribution to journal › Article
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Mark
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
(
- Contribution to journal › Article
- 2021
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Mark
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
(
- Contribution to journal › Article
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Mark
Contributions of de novo variants to systemic lupus erythematosus
(
- Contribution to journal › Article
- 2020
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Mark
Communicating genetic information to family members : analysis of consent forms for diagnostic genomic sequencing
(
- Contribution to journal › Article
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(
- Contribution to journal › Article
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Mark
Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data
(
- Contribution to journal › Article
- 2019
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Mark
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
(
- Contribution to journal › Article