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- 2021
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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
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- 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
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- Contribution to journal › Article
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Mark
Motivations for data sharing—views of research participants from four European countries : A DIRECT study
2019) In European Journal of Human Genetics(
- Contribution to journal › Article
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Mark
A stroke gene panel for whole-exome sequencing
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- Contribution to journal › Article
- 2018
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Mark
Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms
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- Contribution to journal › Article
- 2017
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Mark
From Mendel to Medical Genetics
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- Contribution to journal › Scientific review
- 2016
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Mark
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
(
- Contribution to journal › Article