Mutations in ZBTB20 cause Primrose syndrome

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

(2013) Andrey Shuvarikov et al.   HUMAN MUTATION

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

(2013) Xiaoming Liu et al.   HUMAN MUTATION

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

(2012) Pablo Cingolani et al.   FLY

The Zinc Finger Protein ZBTB20 Regulates Transcription of Fructose-1,6-Bisphosphatase 1 and β Cell Function in Mice

(2012) Ye Zhang et al.   GASTROENTEROLOGY

Additional features of unique Primrose syndrome phenotype

(2011) Daniel Rocha Carvalho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

New case of Primrose syndrome with mild intellectual disability

(2011) Renata Posmyk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of obesity and overgrowth syndromes

(2011) Matthew A. Sabin et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Critical Role of IRF-8 in Negative Regulation of TLR3 Expression by Src Homology 2 Domain-Containing Protein Tyrosine Phosphatase-2 Activity in Human Myeloid Dendritic Cells

(2011) A. Fragale et al.   JOURNAL OF IMMUNOLOGY

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

(2011) A-M Molin et al.   JOURNAL OF MEDICAL GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Features and development ofCoot

(2010) P. Emsley et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Structural Survey of Zinc-Containing Proteins and Development of the Zinc AMBER Force Field (ZAFF)

(2010) Martin B. Peters et al.   Journal of Chemical Theory and Computation

MOTOR TICS, STEREOTYPIES, AND SELF-FLAGELLATION IN PRIMROSE SYNDROME

(2010) P. Dalal et al.   NEUROLOGY

Zbtb20 is essential for the specification of CA1 field identity in the developing hippocampus

(2010) Z. Xie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Zinc Finger Protein Zbtb20 Is Essential for Postnatal Survival and Glucose Homeostasis

(2009) A. P. R. Sutherland et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

Effects of Bulkiness and Hydrophobicity of an Aliphatic Amino Acid in the Recognition Helix of the GAGA Zinc Finger on the Stability of the Hydrophobic Core and DNA Binding Affinity†

(2008) Muthu Dhanasekaran et al.   BIOCHEMISTRY

GROMACS 4:  Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation

(2008) Berk Hess et al.   Journal of Chemical Theory and Computation

Zinc finger protein ZBTB20 is a key repressor of alpha-fetoprotein gene transcription in liver

(2008) Z. Xie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA