Human Molecular Genetics

Authors Schaffner SL, Wassouf Z, Lazaro DF, Xylaki M, Gladish N, Lin DTS, MacIsaac J, Ramadori K, Hentrich T, Schulze-Hentrich JM, Outeiro TF, Kobor MS Journal Human Molecular Genetics Citation Hum Mol Genet. 2022 May 14:ddac104. Abstract Parkinson’s disease (PD) is a neurological disorder with complex interindividual etiology that is

Authors Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B Journal Human Molecular Genetics Citation Hum Mol Genet. 2022 Jan 31:ddab373. Abstract Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency, and