Martin Sauk

Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual

Kaarel Krjutškov, Marina Koltšina, Kelli Grand et al. · Current Genetics · 2013 · 32 citations · Full text

Parallel Sequencing, Genetics, Pathology +20

Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci et al. · Gene · 2015 · 29 citations

Down Syndrome, Intellectual Impairment, New Phenotype +7

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

Martin Sauk, Olga Žilina, Ants Kurg et al. · Scientific Reports · 2018 · 21 citations · Full text

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

Olga Žilina, Kadri Rekker, Lauris Kaplinski et al. · Prenatal Diagnosis · 2019 · 15 citations