Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Discovery of mutations for Mendelian disorders

(2016) Fowzan S. Alkuraya   HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Rare inactivatingPDE11Avariants associated with testicular germ cell tumors

(2015) Anand Pathak et al.   ENDOCRINE-RELATED CANCER

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

(2015) Ahmed Shamia et al.   HUMAN GENETICS

A novelAPCmutation defines a second locus for Cenani–Lenz syndrome

(2015) Nisha Patel et al.   JOURNAL OF MEDICAL GENETICS

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Human knockout research: new horizons and opportunities

(2015) Fowzan S. Alkuraya   TRENDS IN GENETICS

Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice

(2015) Gerhard Sengle et al.   PLoS Genetics

Genomic analysis of primordial dwarfism reveals novel disease genes

(2014) R. Shaheen et al.   GENOME RESEARCH

Genetics and genomic medicine in Saudi Arabia

(2014) Fowzan S. Alkuraya   Molecular Genetics & Genomic Medicine

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function

(2013) Clare Pridans et al.   Scientific Reports

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

(2011) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Estimating the degree of identity by descent in consanguineous couples

(2011) Ian M. Carr et al.   HUMAN MUTATION

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

(2011) Rosa Rademakers et al.   NATURE GENETICS

Phosphodiesterase 11A in brain is enriched in ventral hippocampus and deletion causes psychiatric disease-related phenotypes

(2010) M. P. Kelly et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dominant versus recessive: Molecular mechanisms in metabolic disease

(2008) Johannes Zschocke   JOURNAL OF INHERITED METABOLIC DISEASE