Vũ Chí Dũng

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 397 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 220 citations

Life Sciences, Genetics, Molecular Genetics +7

Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo et al. · Journal of Medical Genetics · 2018 · 183 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Naoaki Shibata, Yuki Hasegawa, Kenji Yamada et al. · Molecular Genetics and Metabolism Reports · 2018 · 129 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +13

Enzyme replacement therapy in a murine model of Morquio A syndrome

Shunji Tomatsu, Adriana M. Montaño, Amiko Ohashi et al. · Human Molecular Genetics · 2007 · 110 citations · Full text

Life Sciences, Biochemistry, Pharmacokinetics +16