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| 34125233 | Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings. | Journal of Clinical Endocrinology and Metabolism | 2021 |
| 33576074 | Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. | Clin Genet | 2021 |
| 33526774 | Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia. | Transl Psychiatry | 2021 |
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| 34328347 | Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. | Circ Genom Precis Med | 2021 |
| 34547032 | Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. | PLoS Genet | 2021 |
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| 32116545 | Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. | Front Mol Neurosci | 2020 |
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| 30304514 | Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. | Human Molecular Genetics | 2019 |
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| 31248428 | Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin? | Orphanet Journal of Rare Diseases | 2019 |
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| 28771251 | Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. | Genet Med | 2018 |
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