A mutation screen in patients with Kabuki syndrome

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

Norio Niikawa, Nobuo Matsuura, Yoshimitsu Fukushima et al. · The Journal of Pediatrics · 1981 · 544 citations

Medicine, Human Development, Pediatrics +15

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen et al. · Nature Genetics · 2010 · 507 citations

Life Sciences, Genetics, Molecular Genetics +7

A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

Yoshikazu Kuroki, Yasuyuki Suzuki, Hiroyuki Chyo et al. · The Journal of Pediatrics · 1981 · 461 citations

Medicine, Pediatrics, Human Genetics +11