The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review

Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia

(2013) Dana Gabrikova et al.   JOURNAL OF APPLIED GENETICS

Split-hand/foot malformation - molecular cause and implications in genetic counseling

(2013) Anna Sowińska-Seidler et al.   JOURNAL OF APPLIED GENETICS

Unique frequencies of HFE gene variants in Roma/Gypsies

(2012) Dana Gabriková et al.   JOURNAL OF APPLIED GENETICS

ENU mutagenesis in mice identifies candidate genes for hypogonadism

(2012) Jeffrey Weiss et al.   MAMMALIAN GENOME

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

Late Pleistocene climate change and the global expansion of anatomically modern humans

(2012) A. Eriksson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

(2012) A. Keinan et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Evidence of Inbreeding Depression on Human Height

(2012) Ruth McQuillan et al.   PLoS Genetics

Human Congenital Diseases with Mixed Modes of Inheritance Have a Shortage of Recessive Disease. A Demographic Scenario?

(2011) N. Avrion Mitchison et al.   ANNALS OF HUMAN GENETICS

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease

(2010) Nhung Nguyen et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Clinical consequences of heterozygosity for autosomal-recessive diseases*,**

(2010) F. Vogel   CLINICAL GENETICS

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

(2010) Alex Coventry et al.   Nature Communications

The Characterization of Twenty Sequenced Human Genomes

(2010) Kimberly Pelak et al.   PLoS Genetics

Autosomal recessive diseases among the Athabaskans of the Southwestern United States: Recent advances and implications for the future

(2009) Robert P. Erickson   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical Significance of Complement Deficiencies

(2009) H. David Pettigrew et al.   Annals of the New York Academy of Sciences

The evolution of human artistic creativity

(2009) Gillian M. Morriss-Kay   JOURNAL OF ANATOMY

The genetics of inbreeding depression

(2009) Deborah Charlesworth et al.   NATURE REVIEWS GENETICS

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ENU Mutagenesis, a Way Forward to Understand Gene Function

(2008) Abraham Acevedo-Arozena et al.   Annual Review of Genomics and Human Genetics

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

From ENU mutagenesis to population genetics

(2008) N. Avrion Mitchison et al.   MAMMALIAN GENOME

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE