Genetic Mosaics and the Germ Line Lineage

Germline & Somatic Mosaicism: The 2014 Annual Scientific Meeting of the Human Genome Variation Society

(2015) William S. Oetting et al.   HUMAN MUTATION

Genomic and Epigenomic Analyses of Monozygotic Twins Discordant for Congenital Renal Agenesis

(2014) Meiling Jin et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Whole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease

(2014) Britt-Sabina Petersen et al.   BMC GENOMICS

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

(2014) August Y Huang et al.   CELL RESEARCH

Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism

(2014) A.Y. Tan et al.   CLINICAL GENETICS

Recent advances in the study of somatic mosaicism and diseases other than cancer

(2014) Robert P Erickson   CURRENT OPINION IN GENETICS & DEVELOPMENT

Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis

(2014) Fabien Magne et al.   Hormone Research in Paediatrics

McCune-Albright Syndrome: A Detailed Pathological and Genetic Analysis of Disease Effects in an Adult Patient

(2014) Vladimir Vasilev et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair

(2014) Gülşah M Dal et al.   JOURNAL OF MEDICAL GENETICS

Genome sequencing of normal cells reveals developmental lineages and mutational processes

(2014) Sam Behjati et al.   NATURE

Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

(2014) Pongsathorn Chaiyasap et al.   PLoS One

Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection

(2013) Song-Ro Yoon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Finding the needle in the haystack: Differentiating “identical” twins in paternity testing and forensics by ultra-deep next generation sequencing

(2013) Jacqueline Weber-Lehmann et al.   Forensic Science International-Genetics

Comparative molecular portraits of human unfertilized oocytes and primordial germ cells at 10 weeks of gestation

(2013) Ferdinand Diedrichs et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Somatic point mutations occurring early in development: a monozygotic twin study

(2013) Rui Li et al.   JOURNAL OF MEDICAL GENETICS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Properties and rates of germline mutations in humans

(2013) Catarina D. Campbell et al.   TRENDS IN GENETICS

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Genome, epigenome and transcriptome analyses of a pair of monozygotic twins discordant for systemic lupus erythematosus

(2012) Hiroshi Furukawa et al.   HUMAN IMMUNOLOGY

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

(2012) Sarah Ducamp et al.   HUMAN MOLECULAR GENETICS

The rate of human mutation

(2012) Alexey Kondrashov   NATURE

Positive Selection for New Disease Mutations in the Human Germline: Evidence from the Heritable Cancer Syndrome Multiple Endocrine Neoplasia Type 2B

(2012) Soo-Kyung Choi et al.   PLoS Genetics

The molecular and cellular basis of gonadal sex reversal in mice and humans

(2012) Nick Warr et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Congenital Tetragametic Blood Chimerism Explains a Case of Questionable Paternity*

(2011) Qiong Yu et al.   JOURNAL OF FORENSIC SCIENCES

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Mutant AKT1 in Proteus Syndrome

(2011)   NEW ENGLAND JOURNAL OF MEDICINE

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

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

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Saturation of the Human Phenome

(2010) Mark E. Samuels   CURRENT GENOMICS

Why are monozygotic twins different?

(2010) Sara Silva et al.   JOURNAL OF PERINATAL MEDICINE

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

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

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

(2010) Sergio E. Baranzini et al.   NATURE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

(2009) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Primordial germ cell biology at the beginning of the XXI Century

(2009) Massimo De Felici   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

The Early Human Germ Cell Lineage Does Not Express SOX2 During In Vivo Development or upon In Vitro Culture1

(2008) Rebecca M. Perrett et al.   BIOLOGY OF REPRODUCTION

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations

(2008) S.-K. Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

On the origin of trisomy 21 Down syndrome

(2008) Maj A Hultén et al.   Molecular Cytogenetics

Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies

(2007) Mbarka Dakouane Giudicelli et al.   FERTILITY AND STERILITY