Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad, Aparna
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. [electronic resource] - BMC medical genetics 03 2018 - 46 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1471-2350
10.1186/s12881-018-0555-3 doi
Adolescent
Amino Acid Transport Systems, Basic--genetics
Aminopeptidases--genetics
Autism Spectrum Disorder--diagnosis
Child
Child, Preschool
Cohort Studies
DNA Copy Number Variations
Developmental Disabilities--diagnosis
Diagnostic Tests, Routine
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases--genetics
Female
Homozygote
Humans
Infant
Intellectual Disability--diagnosis
Male
Microarray Analysis
Mitochondrial Membrane Transport Proteins
NADH Dehydrogenase--genetics
Neurodevelopmental Disorders--diagnosis
Phenotype
Polymorphism, Single Nucleotide
Potassium Channels, Voltage-Gated--genetics
Sequence Analysis, DNA
Serine Proteases--genetics
Shaker Superfamily of Potassium Channels
Tripeptidyl-Peptidase 1
Exome Sequencing
Young Adult
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. [electronic resource] - BMC medical genetics 03 2018 - 46 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1471-2350
10.1186/s12881-018-0555-3 doi
Adolescent
Amino Acid Transport Systems, Basic--genetics
Aminopeptidases--genetics
Autism Spectrum Disorder--diagnosis
Child
Child, Preschool
Cohort Studies
DNA Copy Number Variations
Developmental Disabilities--diagnosis
Diagnostic Tests, Routine
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases--genetics
Female
Homozygote
Humans
Infant
Intellectual Disability--diagnosis
Male
Microarray Analysis
Mitochondrial Membrane Transport Proteins
NADH Dehydrogenase--genetics
Neurodevelopmental Disorders--diagnosis
Phenotype
Polymorphism, Single Nucleotide
Potassium Channels, Voltage-Gated--genetics
Sequence Analysis, DNA
Serine Proteases--genetics
Shaker Superfamily of Potassium Channels
Tripeptidyl-Peptidase 1
Exome Sequencing
Young Adult