Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

(2010) S.U. Dhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Progressive accumulation of amyloid-β oligomers in Alzheimer’s disease and in amyloid precursor protein transgenic mice is accompanied by selective alterations in synaptic scaffold proteins

(2010) Emiley Pham et al.   FEBS Journal

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

(2010) Femke Hannes et al.   HUMAN MUTATION

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Behavioral and Cerebellar Transmission Deficits in Mice Lacking the Autism-Linked Gene Islet Brain-2

(2010) J. Giza et al.   JOURNAL OF NEUROSCIENCE

New mutations and intellectual function

(2010) James R Lupski   NATURE GENETICS

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disruption of glutamate receptors at Shank-postsynaptic platform in Alzheimer's disease

(2009) Yuesong Gong et al.   BRAIN RESEARCH

Non-B DNA structure-induced genetic instability and evolution

(2009) Junhua Zhao et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

(2009) A. Delahaye et al.   European Journal of Medical Genetics

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

(2009) Svetlana A. Yatsenko et al.   HUMAN MOLECULAR GENETICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

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

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

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

(2008) Heather L Wilson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

(2008) Maria Clara Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

(2008) A. Philippe et al.   PEDIATRICS