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- 2021
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Mark
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
(
- Contribution to journal › Article
- 2014
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Mark
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity
(
- Contribution to journal › Article
- 2013
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Mark
A functional variant in the CFI gene confers a high risk of age-related macular degeneration
(
- Contribution to journal › Article
- 2005
-
Mark
A manually curated functional annotation of the human X chromosome
(
- Contribution to journal › Letter