Unrevealed mosaicism in the next-generation sequencing era

Low-level constitutional mosaicism of a de novoBRCA1 gene mutation

(2015) E Friedman et al.   BRITISH JOURNAL OF CANCER

Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies

(2015) Diane Van Opstal et al.   HUMAN MUTATION

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pallister-Killian syndrome

(2014) Kosuke Izumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAFmutations

(2014) Michaela Angelika Ihle et al.   BMC CANCER

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

(2014) H. Holstege et al.   GENOME RESEARCH

Epigenetic germline mosaicism in infertile men

(2014) Sandra Laurentino et al.   HUMAN MOLECULAR GENETICS

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

(2014) Diana Braunholz et al.   HUMAN MUTATION

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

(2014) Sandra Donkervoort et al.   HUMAN MUTATION

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans

(2014) Tyl H. Taylor et al.   HUMAN REPRODUCTION UPDATE

Clinical Utility of Chromosomal Microarray Analysis of DNA from Buccal Cells: Detection of Mosaicism in Three Patients

(2014) Mallory R. Sdano et al.   Journal of Genetic Counseling

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

(2014) Alina Teresa Midro et al.   JOURNAL OF HUMAN GENETICS

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

(2014) Satoko Miyatake et al.   NEUROMUSCULAR DISORDERS

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

(2014) Xuyu Cai et al.   Cell Reports

Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder

(2014) Esther R. Berko et al.   PLoS Genetics

Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

(2013) Joseph D Baugher et al.   BMC GENOMICS

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

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

(2013) Amy P. Hsu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Disease-Causing Mitochondrial Heteroplasmy Segregated Within Induced Pluripotent Stem Cell Clones Derived from a Patient with MELAS

(2013) Clifford D.L. Folmes et al.   STEM CELLS

Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

(2012) T. Liehr et al.   CYTOGENETIC AND GENOME RESEARCH

Chromosomal variation in lymphoblastoid cell lines

(2012) Matthew D. Shirley et al.   HUMAN MUTATION

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency

(2012) Maria Ximena Sosa et al.   PLoS Computational Biology

A new approach for detecting low-level mutations in next-generation sequence data

(2012) Mingkun Li et al.   GENOME BIOLOGY

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

(2011) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

(2011) Monique M van Veghel-Plandsoen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell

(2011) Thomas Liehr et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Somatic mosaicism in healthy human tissues

(2011) Subhajyoti De   TRENDS IN GENETICS

Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes

(2010) Mingkun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

(2010) Marzena Gajecka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation

(2010) Hamid Reza Razzaghian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic mosaicism in the Wiskott–Aldrich syndrome: Molecular and functional characterization of genotypic revertants

(2010) Brian R. Davis et al.   CLINICAL IMMUNOLOGY

Revertant mosaicism in skin: natural gene therapy

(2010) Joey E. Lai-Cheong et al.   TRENDS IN MOLECULAR MEDICINE

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

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements

(2009) Carla S. D’Angelo et al.   HUMAN GENETICS

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Revertant Mosaicism — Patchwork in the Skin

(2009) Marcel F. Jonkman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

(2008) Carl E.G. Bruder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)

(2008) Marzena Gajecka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

(2008) M. Gajecka et al.   GENOME RESEARCH