New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

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

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

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

(2012) Purificación Ros-Pérez et al.   BMC Pediatrics

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Estimating the human mutation rate using autozygosity in a founder population

(2012) Catarina D Campbell et al.   NATURE GENETICS

Massively Parallel Haplotyping on Microscopic Beads for the High-Throughput Phase Analysis of Single Molecules

(2012) Jérôme Boulanger et al.   PLoS One

Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men

(2012) Jasmine Lim et al.   PLoS One

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

Upsetting the Dogma: Germline Selection in Human Males

(2012) James F. Crow   PLoS Genetics

Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

(2011) Silvie Foldynova-Trantirkova et al.   HUMAN MUTATION

Age-related instability in spermatogenic cell nuclear and mitochondrial DNA obtained from Apex1 heterozygous mice

(2011) Kristine S. Vogel et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

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

(2011) Donald F Conrad et al.   NATURE GENETICS

BAX and Tumor Suppressor TRP53 Are Important in Regulating Mutagenesis in Spermatogenic Cells in Mice1

(2010) Guogang Xu et al.   BIOLOGY OF REPRODUCTION

Mouse Germ Line Stem Cells Undergo Rapid and Stochastic Turnover

(2010) Allon M. Klein et al.   Cell Stem Cell

Birth prevalence rates of skeletal dysplasias

(2010) Claude Stoll et al.   CLINICAL GENETICS

Physical Basis behind Achondroplasia, the Most Common Form of Human Dwarfism

(2010) Lijuan He et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Product Length, Dye Choice, and Detection Chemistry in the Bead-Emulsion Amplification of Millions of Single DNA Molecules in Parallel

(2009) Irene Tiemann-Boege et al.   ANALYTICAL CHEMISTRY

Genetic Reconstruction of Mouse Spermatogonial Stem Cell Self-Renewal In Vitro by Ras-Cyclin D2 Activation

(2009) Jiyoung Lee et al.   Cell Stem Cell

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

(2009) Anne Goriely et al.   NATURE GENETICS

Understanding what determines the frequency and pattern of human germline mutations

(2009) Norman Arnheim et al.   NATURE REVIEWS GENETICS

The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect

(2009) Song-Ro Yoon et al.   PLoS Genetics

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US

(2008) D.K. Waller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulation of Spermatogonial Stem Cell Self-Renewal in Mammals

(2008) Jon M. Oatley et al.   Annual Review of Cell and Developmental Biology

FGFR3-related dwarfism and cell signaling

(2008) Daisuke Harada et al.   JOURNAL OF BONE AND MINERAL METABOLISM

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

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