Exome sequencing identifies a de novo frameshift mutation in the imprinted geneZDBF2in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Gpr1/Zdbf2 locus provides new paradigms for transient and dynamic genomic imprinting in mammals

(2014) R. Duffie et al.   GENES & DEVELOPMENT

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

(2014) Karol Estrada et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case

(2013) Oscar F. Chacon-Camacho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Imprinted DNA methylation reprogramming during early mouse embryogenesis at theGpr1-Zdbf2locus is linked to longcis-intergenic transcription

(2012) Hisato Kobayashi et al.   FEBS LETTERS

Nasopalpebral lipoma coloboma syndrome

(2011) Ravi Kumar et al.   INDIAN JOURNAL OF OPHTHALMOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Nasopalpebral lipoma-coloboma syndrome

(2010) A. N. Akarsu et al.   CLINICAL GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2

(2009) Hisato Kobayashi et al.   GENOMICS