Publications
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Author Title [ Year] Filters: Keyword is Genome, Human and Author is Gambin, Tomasz [Clear All Filters]
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 18, 678-85 (2016).
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat 37, 231-234 (2016).
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet 135, 569-586 (2016).
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet 25, 73-78 (2016).