Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

(2013) Chiara Castronovo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includesTBR1,TANK, andPSMD14

(2013) Lindsay C. Burrage et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

(2013) Joanna Wiszniewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard

(2012) Jennelle C. Hodge et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

(2012) CVM Steinbusch et al.   CLINICAL GENETICS

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

(2012) Hirotomo Saitsu et al.   EPILEPSIA

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

(2012) Weimin Bi et al.   GENETICS IN MEDICINE

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

(2012) Svetlana A. Yatsenko et al.   HUMAN GENETICS

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

(2012) Caroline Robberecht et al.   Molecular Cytogenetics

UPD detection using homozygosity profiling with a SNP genotyping microarray

(2011) Peter Papenhausen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanisms of ring chromosome formation, ring instability and clinical consequences

(2011) Roberta S Guilherme et al.   BMC Medical Genetics

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

(2011) Antoinet C.J. Gijsbers et al.   European Journal of Medical Genetics

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

(2011) Magdalena Bartnik et al.   GENETICS IN MEDICINE

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

(2011) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Chromosome missegregation in human cells arises through specific types of kinetochore-microtubule attachment errors

(2011) S. L. Thompson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

(2010) Benjamín Rodríguez-Santiago et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cytogenetic screening of a new-born population

(2010) Inger-Lise Hansteen et al.   CLINICAL GENETICS

Mosaic microdeletion 18q21 as a cause of mental retardation

(2010) Dimitri J. Stavropoulos et al.   European Journal of Medical Genetics

Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform

(2010) Sarah Hoang et al.   European Journal of Medical Genetics

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

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

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

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

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy

(2009) Aaron Theisen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

(2009) Ayman W. El-Hattab et al.   HUMAN GENETICS

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

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