Yoriko Watanabe

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 901 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate

Alexandre R. Vieira, Joseph R. Avila, Sandra Daack‐Hirsch et al. · PLoS Genetics · 2005 · 260 citations · Full text

Dentistry, Genetics, Molecular Genetics +16

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Aya Narita, Kentarou Shirai, Shinji Itamura et al. · Annals of Clinical and Translational Neurology · 2016 · 215 citations · Full text

Medicine, Neurology, Pharmacology +13

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto et al. · American Journal of Medical Genetics Part A · 2013 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy

Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi et al. · Epilepsia · 2015 · 127 citations · Full text

Medicine, Genetics, Neurology +17