A genomic view of mosaicism and human disease

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of the mechanism underlying a human chimera by SNP array analysis

(2012) So Youn Shin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome

(2012) Laura K. Conlin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties

(2012) P. Callum et al.   HUMAN REPRODUCTION

Realm of Revertant Mosaicism Expanding

(2012) Marcel F. Jonkman et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Keratinocytic epidermal nevi are associated with mosaicRASmutations

(2012) Christian Hafner et al.   JOURNAL OF MEDICAL GENETICS

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

(2012) Alexej Abyzov et al.   NATURE

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

(2012) Leopold Groesser et al.   NATURE GENETICS

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Detectable clonal mosaicism from birth to old age and its relationship to cancer

(2012) Cathy C Laurie et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

(2012) Jose Bras et al.   NATURE REVIEWS NEUROSCIENCE

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

MYD88 L265P Somatic Mutation in Waldenström's Macroglobulinemia

(2012) Steven P. Treon et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Mosaic trisomy 17: Variable clinical and cytogenetic presentation

(2011) Robert Daber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Mosaicism in Segmental Darier Disease: An In-Depth Molecular Analysis Quantifying Proportions of Mutated Alleles in Various Tissues

(2011) Theresa Larriba Harboe et al.   DERMATOLOGY

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

(2011) Valeria Romanelli et al.   EUROPEAN JOURNAL OF HUMAN 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

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

(2011) Julia Vogt et al.   HUMAN MUTATION

Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia

(2011) N. P. Lee et al.   JOURNAL OF MEDICAL GENETICS

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

(2011) D. H. Best et al.   JOURNAL OF MEDICAL GENETICS

Towards systematic functional characterization of cancer genomes

(2011) Jesse S. Boehm et al.   NATURE REVIEWS GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Replicative Age Induces Mitotic Recombination in the Ribosomal RNA Gene Cluster of Saccharomyces cerevisiae

(2011) Derek L. Lindstrom et al.   PLoS Genetics

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

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

Chimerism resulting from parthenogenetic activation and dispermic fertilization

(2010) Johanna Winberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Monozygotic twins discordant for neurofibromatosis 1

(2010) Lee Kaplan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The McCune-Albright syndrome: a lethal gene surviving by mosaicism

(2010) R. Happle   CLINICAL GENETICS

Selection and mutation in the “new” genetics: an emerging hypothesis

(2010) Bruce Gottlieb et al.   HUMAN GENETICS

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

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

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

(2010) Ludwine Messiaen et al.   HUMAN MUTATION

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

(2010) V. Romanelli et al.   JOURNAL OF MEDICAL GENETICS

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

(2010) K. Yamazawa et al.   JOURNAL OF MEDICAL GENETICS

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

(2010) L. K. Conlin et al.   JOURNAL OF MEDICAL GENETICS

Somatic gene mutation and human disease other than cancer: An update

(2010) Robert P. Erickson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

(2010) K. A. Choate et al.   SCIENCE

Monozygotic Twins With Neurofibromatosis Type 1 (NF1) Display Differences in Methylation of NF1 Gene Promoter Elements, 5' Untranslated region, Exon and Intron 1

(2010) Anja Harder et al.   Twin Research and Human Genetics

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE 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

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

The impact of next-generation sequencing technology on genetics

(2008) Elaine R. Mardis   TRENDS IN GENETICS