The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

(2012) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cadherins and neuropsychiatric disorders

(2012) Christoph Redies et al.   BRAIN RESEARCH

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

(2012) Claire Bacon et al.   HUMAN GENETICS

DNA breaks and chromosome pulverization from errors in mitosis

(2012) Karen Crasta et al.   NATURE

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

Diacylglycerol Kinase β Knockout Mice Exhibit Attention-Deficit Behavior and an Abnormal Response on Methylphenidate-Induced Hyperactivity

(2012) Mitsue Ishisaka et al.   PLoS One

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

(2012) Wigard P. Kloosterman et al.   Cell Reports

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

(2011) Wigard P Kloosterman et al.   GENOME BIOLOGY

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

(2010) Ni-Chung Lee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data

(2010) Bruno Zeitouni et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Expression of two type II cadherins, Cdh12 and Cdh22 in the developing and adult mouse brain

(2010) M. Mayer et al.   GENE EXPRESSION PATTERNS

Human-specific transcriptional regulation of CNS development genes by FOXP2

(2009) Genevieve Konopka et al.   NATURE

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

FOXP2 as a molecular window into speech and language

(2009) Simon E. Fisher et al.   TRENDS IN GENETICS

Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

(2009) Paula JP de Vree et al.   Molecular Cytogenetics

Molecular Definition of High-resolution Multicolor Banding Probes: First Within the Human DNA Sequence Anchored FISH Banding Probe Set

(2008) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY