Vasiliki Karageorgou

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

Anu Bashamboo, Raja Brauner, Joëlle Bignon‐Topalovic et al. · Human Molecular Genetics · 2014 · 98 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, Raja Brauner et al. · PLoS ONE · 2011 · 88 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan et al. · Genetics in Medicine · 2021 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi et al. · Genetics in Medicine · 2021 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Ricardo Moreno Traspas, Tze Shin Teoh, Pui‐Mun Wong et al. · Nature Genetics · 2022 · 28 citations · Full text

Medicine, Molecular Biology, Pediatrics +12