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- 2023
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Mark
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
(
- Contribution to journal › Article
- 2022
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Mark
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
(
- Contribution to journal › Article
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Mark
Glioblastoma CD105+ cells define a SOX2- cancer stem cell-like subpopulation in the pre-invasive niche
(
- Contribution to journal › Article
- 2020
-
Mark
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
(
- Contribution to journal › Article
-
Mark
Hereditary hypertrophic cardiomyopathy in children and young adults—The value of reevaluating and expanding gene panel analyses
(
- Contribution to journal › Article
- 2019
-
Mark
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
(
- Contribution to journal › Article
- 2017
-
Mark
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
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- Contribution to journal › Article
- 2013
-
Mark
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
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- Contribution to journal › Article
- 2012
-
Mark
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
(
- Contribution to journal › Article
- 2011
-
Mark
Genomic characterization of ETV6/RUNX1-positive acute lymphoblastic leukemia
(
- Thesis › Doctoral thesis (compilation)