A mutation screen in patients with Kabuki syndrome

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical genetics of Kallmann syndrome

(2010) C. Dodé et al.   ANNALES D ENDOCRINOLOGIE

Kabuki make-up (Niikawa-Kur oki) syndrome: cognitive abilities and autistic features

(2010) Helena H. Ho et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Epigenetics and gene expression

(2010) E R Gibney et al.   HEREDITY

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

(2010) Aimée D. C. Paulussen et al.   HUMAN MUTATION

Binding of the MLL PHD3 Finger to Histone H3K4me3 Is Required for MLL-Dependent Gene Transcription

(2010) Pei-Yun Chang et al.   JOURNAL OF MOLECULAR BIOLOGY

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

BCOR regulates mesenchymal stem cell function by epigenetic mechanisms

(2009) Zhipeng Fan et al.   NATURE CELL BIOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS