Anna Schossig

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

Anna Schossig, Nicole I. Wolf, Christine Fischer et al. · The American Journal of Human Genetics · 2012 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations

Martina Huemer, Daniela Karall, Anna Schossig et al. · Journal of Inherited Metabolic Disease · 2015 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

<i>SLC13A5</i> is the second gene associated with Kohlschütter–Tönz syndrome

Anna Schossig, Agnès Bloch‐Zupan, Adrian Lussi et al. · Journal of Medical Genetics · 2016 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17