Exome

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science / Multidisciplinary / Transcriptome / Humans / Mutation / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Medical Genetics / Gene expression / Biological Sciences / Humans / Mutation / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science / Multidisciplinary / Transcriptome / Humans / Mutation / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science / Multidisciplinary / Transcriptome / Humans / Mutation / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies

MAN1B1 Deficiency: An Unexpected CDG-II

Genetics / Molecular Biology / Genomics / Adolescent / Intellectual Disability / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Medical Genetics / Gene expression / Biological Sciences / Humans / Mutation / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

Drosophila melanogaster / Transcription Factors / Biological Sciences / Saccharomyces cerevisiae / RNA interference / Humans / Sequence alignment / Mutation / Mice / Animals / Ribosomal proteins / Base Sequence / Site-directed Mutagenesis / Exome / Polyribosomes / Humans / Sequence alignment / Mutation / Mice / Animals / Ribosomal proteins / Base Sequence / Site-directed Mutagenesis / Exome / Polyribosomes

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

Genetics / Magnetic Resonance Imaging / Turkey / Membrane Proteins / Intellectual Disability / Gene expression / Brain / Pregnancy / Humans / Female / Male / Gene Order / Infant / Pedigree / Phenotype / Clinical Sciences / Facies / Consanguinity / Bone and Bones / Pregnancy Outcome / Exome / Gene expression / Brain / Pregnancy / Humans / Female / Male / Gene Order / Infant / Pedigree / Phenotype / Clinical Sciences / Facies / Consanguinity / Bone and Bones / Pregnancy Outcome / Exome

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

Drosophila melanogaster / Transcription Factors / Biological Sciences / Saccharomyces cerevisiae / RNA interference / Humans / Sequence alignment / Mutation / Mice / Animals / Ribosomal proteins / Base Sequence / Exome / Polyribosomes / Humans / Sequence alignment / Mutation / Mice / Animals / Ribosomal proteins / Base Sequence / Exome / Polyribosomes

Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing

Cognitive Science / Neurology / Humans / Fatty acids / Female / Male / Siblings / Clinical Sciences / Adult / Human Fibroblasts / Neurosciences / Exome / Male / Siblings / Clinical Sciences / Adult / Human Fibroblasts / Neurosciences / Exome

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

BAP1 loss defines a new class of renal cell carcinoma

Transcription Factors / Gene expression / Biological Sciences / Humans / Mutation / Female / Renal cell Carcinoma / Male / Aged / Middle Aged / Exome / Female / Renal cell Carcinoma / Male / Aged / Middle Aged / Exome

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science / Multidisciplinary / Transcriptome / Humans / Mutation / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies

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