Angelika Rieß

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Lutz Garbes, Kyung‐Ho Kim, Angelika Rieß et al. · The American Journal of Human Genetics · 2015 · 174 citations · Full text

Developmental Biology, Cell Division, Bone Morphogenic Protein +12

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Peter Krawitz, Yoshiko Murakami, Angelika Rieß et al. · The American Journal of Human Genetics · 2013 · 109 citations · Full text

Mental Retardation Syndrome, Developmental Biology, Mendelian Disorder +6

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

Denise Horn, M. Chyrek, Saskia Kleier et al. · European Journal of Human Genetics · 2005 · 60 citations · Full text

Mendelian Disorder, Genetic Disorder, Novel Mutations +5