Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

J. Andrew Keightley, Roberto P. Anitori, Miriam D. Burton, +3

The American Journal of Human Genetics

Mitochondrial BiogenesisMitochondrial FunctionGenetic DisorderGeneticsInherited Metabolic Disease +8

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Feras Hantash, Dana G. Goos, David Tsao, +6

Genetics in Medicine

Genetic TestingMendelian DisorderGenetic DisorderMosaic CarriersGenetics +10

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

Charles M. Strom, Dana Goos, Beryl Crossley, +6

Genetics in Medicine

Allelic VariantGenetic TestingPopulation FrequenciesMedicineGenetics +10

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism

Franklin Quan, Markus Grompe, Petra Jakobs, +1

Human Molecular Genetics

Genetic TestingGeneticsPathologyMolecular BiologyMolecular Genetics +21

Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory

Charles M. Strom, Beryl Crossley, Joy B. Redman, +6

Genetics in Medicine

Fragile X SyndromeGenetic TestingMendelian DisorderGenetic DisorderMedicine +10

Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis

Charles M. Strom, Beryl Crossley, Arlene Buller-Buerkle, +7

Genetics in Medicine

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: Assay validation and unexpected benefits of developing a comprehensive test

Charles M. Strom, Donghui Huang, Christina Chen, +5

Genetics in Medicine

Assay ValidationFunctional GenomicsSequencingMendelian DisorderMedicine +11

A novel CAG repeat configuration in the <i>SCA1</i> gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

Franklin Quan, Joanne Janas, Bradley W. Popovich

Human Molecular Genetics

GeneticsGenetic EpidemiologyMolecular BiologyPathologyMolecular Genetics +19

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening

Feras Hantash, Joy B. Redman, Kelsey Starn, +7

Human Genetics

Cystic Fibrosis ScreeningFibrosisGenetic DisorderMedicineGenetics +9

Restricted spatial and temporal expression of G-protein <i>α</i> subunits during <i>Drosophila</i> embryogenesis

William J. Wolfgang, Franklin Quan, Nina Cheeran Thambi, +1

Development