Ferdy Kurniawan Cayami

<i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections

Dimitra Micha, Dongchuan Guo, Yvonne Hilhorst‐Hofstee et al. · Human Mutation · 2015 · 98 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Diffuse hypomyelination is not obligate for POLR3-related disorders

Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran et al. · Neurology · 2016 · 76 citations · Full text

Medicine, Neurology, Neuroscience +16

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Noriko Miyake, Nicole I. Wolf, Ferdy Kurniawan Cayami et al. · Neurogenetics · 2017 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants

Laurence Gauquelin, Ferdy Kurniawan Cayami, László Sztriha et al. · Neurology Genetics · 2019 · 50 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +11

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 45 citations · Full text

Medicine, Endocrinology, Endocrine Genetics +16