Eda Mengen

Loss-of-Function Mutations in<i>PNPLA6</i>Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

A. Kemal Topaloğlu, Alejandro Lomniczi, Doris Kretzschmar et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 106 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations in FEZF1 Cause Kallmann Syndrome

Leman Damla Kotan, B. Ian Hutchins, Yusuf Özkan et al. · The American Journal of Human Genetics · 2014 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

B. Ian Hutchins, Leman Damla Kotan, Carol Taylor‐Burds et al. · Endocrinology · 2016 · 54 citations · Full text

Medicine, Endocrinology, Genetics +17

Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism

Leman Damla Kotan, Gaëtan Ternier, Aydilek Dağdeviren Çakır et al. · Genetics in Medicine · 2021 · 54 citations · Full text

Medicine, Genetics, Molecular Genetics +15

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

İhsan Turan, B. Ian Hutchins, Bülent Hacıhamdioğlu et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 38 citations · Full text

Medicine, Endocrinology, Genetics +17