Seher Başaran

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Antonio Orlacchio, Carla Babalini, Antonella Borreca et al. · Brain · 2010 · 263 citations · Full text

Life Sciences, Genetics, Neurology +13

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Emmanuelle Szenker‐Ravi, Umut Altunoğlu, Marc Leushacke et al. · Nature · 2018 · 201 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +14

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Miriam Gordillo, Hugo Vega, Alison Trainer et al. · Human Molecular Genetics · 2008 · 130 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the<i>lipoma HMGIC fusion partner-like 5 (LHFPL5)</i>gene cause autosomal recessive nonsyndromic hearing loss

Ersan Kalay, Yun Li, Abdullah Üzümcü et al. · Human Mutation · 2006 · 71 citations

Life Sciences, Genetics, Molecular Genetics +16

Isochromosome 18p Results from Maternal Meiosis II Nondisjunction

Dieter Kotzot, Gertrud Bundscherer, Fabiana Bernasconi et al. · European Journal of Human Genetics · 1996 · 62 citations

Life Sciences, Genetics, Molecular Genetics +11