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

Zbtb20 Defines a Hippocampal Neuronal Identity Through Direct Repression of Genes That Control Projection Neuron Development in the Isocortex

(2013) Jakob V. Nielsen et al.   CEREBRAL CORTEX

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(2013) P. Dittwald et al.   GENOME RESEARCH

Growth Associated Protein 43 Is Expressed in Skeletal Muscle Fibers and Is Localized in Proximity of Mitochondria and Calcium Release Units

(2013) Simone Guarnieri et al.   PLoS One

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Mechanisms for recurrent and complex human genomic rearrangements

(2012) Pengfei Liu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

(2012) Barbara Wiśniowiecka-Kowalnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

(2012) Allen N. Lamb et al.   HUMAN MUTATION

Cdon and Boc: Two transmembrane proteins implicated in cell–cell communication

(2012) Luisa Sanchez-Arrones et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Distinct Acyl Protein Transferases and Thioesterases Control Surface Expression of Calcium-activated Potassium Channels

(2012) Lijun Tian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A recurrent translocation is mediated by homologous recombination between HERV-H elements

(2012) Karen E Hermetz et al.   Molecular Cytogenetics

Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

(2011) Gyu-Un Bae et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

(2011) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LINE-1 Elements in Structural Variation and Disease

(2011) Christine R. Beck et al.   Annual Review of Genomics and Human Genetics

Overlapping Roles and Collective Requirement for the Coreceptors GAS1, CDO, and BOC in SHH Pathway Function

(2011) Benjamin L. Allen et al.   DEVELOPMENTAL CELL

Targeting BK (big potassium) channels in epilepsy

(2011) Prosper N'Gouemo   EXPERT OPINION ON THERAPEUTIC TARGETS

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 copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome

(2010) Amarilis Sanchez-Valle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of genomic loci contributing to agenesis of the corpus callosum

(2010) Mary C. O'Driscoll et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Deletion of chromosome 3q proximal region gives rise to a variable phenotype

(2010) Caroline Mackie Ogilvie et al.   CLINICAL GENETICS

Boc modifies the holoprosencephaly spectrum of Cdo mutant mice

(2010) W. Zhang et al.   Disease Models & Mechanisms

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

(2010) Jill A. Rosenfeld et al.   European Journal of Medical Genetics

Resistance to change and vulnerability to stress: autistic-like features of GAP43-deficient mice

(2010) K. J. Zaccaria et al.   GENES BRAIN AND BEHAVIOR

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

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

(2009) Keiko Shimojima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

(2009) Ryan N Traylor et al.   Molecular Cytogenetics

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Delineation of the proximal 3q microdeletion syndrome

(2008) Marcia J. Simovich et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE