Naomichi Matsumoto

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, Kotb Abdelmohsen, Akihisa Abe et al. · Autophagy · 2016 · 5.9K citations · Full text

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.3K citations · Full text

Engineering, Mendelian Disorder, Identifies Mll2 Mutations +9

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 655 citations

Clinical Disorders, Sotos Syndrome, Neurological Disorder +5

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 612 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +4

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 593 citations

Mendelian Disorder, Genetic Disorder, Germline Kras +4