Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Challenges in clinical interpretation of microduplications detected by array CGH analysis

(2010) Pawel Stankiewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

(2010) Feng Li et al.   European Journal of Medical Genetics

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

(2010) Ayman W El-Hattab et al.   GENETICS IN MEDICINE

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

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

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Prdm9 Controls Activation of Mammalian Recombination Hotspots

(2010) E. D. Parvanov et al.   SCIENCE

Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination

(2010) S. Myers et al.   SCIENCE

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

(2009) G. Beunders et al.   JOURNAL OF MEDICAL GENETICS

Modulation of Neuritogenesis by a Protein Implicated in X-Linked Mental Retardation

(2009) X. Jiao et al.   JOURNAL OF NEUROSCIENCE

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

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

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

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

(2008) Lina Shao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder

(2008) K.J. Brookes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

A common sequence motif associated with recombination hot spots and genome instability in humans

(2008) Simon Myers et al.   NATURE GENETICS

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

(2008) X.-Y. Lu et al.   PEDIATRICS