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Nature Genetics|December 18, 2019
Loss of ADAMTS19 causes progressive non-syndromic heart valve diseaseFlorian Wünnemann, Asaf Ta-Shma, Christoph Preuss, et al.
Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.
Nature Communications|November 3, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleGerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, et al.
The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, et al.
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