Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation inKMT2A

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

(2015) Marcello Niceta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

(2015) N. Miyake et al.   CLINICAL GENETICS

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

(2015) Fanny Kortüm et al.   NATURE GENETICS

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion inKMT2A(MLL)

(2014) Bryce A. Mendelsohn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

(2014) Samuel P Strom et al.   BMC Medical Genetics

Mutations in ZBTB20 cause Primrose syndrome

(2014) Viviana Cordeddu et al.   NATURE GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Wiedemann-Steiner syndrome: Three further cases

(2010) Rainer Koenig et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MLL histone methylases in gene expression, hormone signaling and cell cycle

(2009) Khairul et al.   Frontiers in Bioscience-Landmark