Mutations in Extracellular Matrix GenesNID1andLAMC1Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles

Familial Occipital Cephalocele in a Fetus at 21 Weeks' Gestation: Imaging Demonstration Across 3 Generations

(2017) Nitin P. Ghonge et al.   JOURNAL OF ULTRASOUND IN MEDICINE

Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis

(2011) M. C. Blank et al.   DEVELOPMENT

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

A comparative analysis of exome capture

(2011) Jennifer S Parla et al.   GENOME BIOLOGY

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Comprehensive comparison of three commercial human whole-exome capture platforms

(2011) Asan et al.   GENOME BIOLOGY

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

(2010) Vinit B. Mahajan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) A. McKenna et al.   GENOME RESEARCH

A developmental and genetic classification for midbrain-hindbrain malformations

(2009) A. J. Barkovich et al.   BRAIN

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

(2009) Kimberly A Aldinger et al.   NATURE GENETICS

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

(2008) Ali Jalali et al.   HUMAN GENETICS

Zic Deficiency in the Cortical Marginal Zone and Meninges Results in Cortical Lamination Defects Resembling Those in Type II Lissencephaly

(2008) T. Inoue et al.   JOURNAL OF NEUROSCIENCE