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One or more keywords matched the following properties of Das, Soma
keywords Exome sequencing
overview The work in our laboratory focuses on the molecular diagnosis of human genetic disease. Our interest is in translating knowledge obtained from basic research studies to the diagnostic arena, and in developing tools and implementing new technology to improve the diagnosis of human genetic disease. My research interests are translational in nature and are an extension of our diagnostic activities. My main area of interest is in neurodevelopmental disorders, in understanding the underlying molecular basis of these disorders and in genotype-phenotype correlation. By uncovering the molecular defects in many of these disorders, we have been able to broaden the phenotype associated with many neurodevelopmental genes. We work on disorders ranging from rare orphan genetic disorders such as Rett and Angelman syndrome to more common disorders such as ataxia. We use high throughput sequencing techniques, such as exome sequencing, for the identification of disease causing variants. On a more long-term basis we are interested in assessing the diagnostic and clinical utility of high throughput technologies such as whole genome sequencing and transcriptome sequencing in molecular diagnostics.
One or more keywords matched the following items that are connected to Das, Soma
Item TypeName
Concept Alleles
Concept Amino Acid Sequence
Concept Base Sequence
Concept Genes, Dominant
Concept Genes
Concept Genes, Recessive
Concept Molecular Sequence Data
Concept Genome
Concept Sequence Homology, Amino Acid
Concept Genes, Tumor Suppressor
Concept Sequence Alignment
Concept Sequence Analysis, DNA
Concept Genes, Reporter
Concept Sequence Deletion
Concept Genes, MDR
Concept Exome
Concept Oligonucleotide Array Sequence Analysis
Concept Genes, BRCA1
Concept High-Throughput Nucleotide Sequencing
Concept Genome, Human
Concept Conserved Sequence
Concept Polymorphism, Single Nucleotide
Concept Quantitative Trait Loci
Academic Article Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Academic Article Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia.
Academic Article Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups.
Academic Article Characterization of multiple promoters in the human carboxylesterase 2 gene.
Academic Article Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Academic Article Global gene expression as a function of germline genetic variation.
Academic Article ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
Academic Article Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.
Academic Article Exome sequencing and the genetics of intellectual disability.
Academic Article Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Academic Article Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Academic Article Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article Clinical exome sequencing: the new standard in genetic diagnosis.
Academic Article The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
Academic Article De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Academic Article 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.
Academic Article Assuring the quality of next-generation sequencing in clinical laboratory practice.
Academic Article Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
Academic Article Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
Academic Article A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Academic Article Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
Academic Article A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Academic Article Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Academic Article MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Academic Article Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Academic Article Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Academic Article Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Academic Article Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.
Academic Article Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Academic Article Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Search Criteria
  • Exome
  • sequencing