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One or more keywords matched the following properties of Das, Soma
keywords Neurogenetic disorders
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 Anemia, Aplastic
Concept Ataxia
Concept Abnormalities, Multiple
Concept Brain Diseases
Concept Breast Neoplasms
Concept Aneuploidy
Concept Carcinoma
Concept Choristoma
Concept Bone Marrow Diseases
Concept Cerebellar Ataxia
Concept Developmental Disabilities
Concept Cerebellar Diseases
Concept Fetal Diseases
Concept Chromosome Deletion
Concept Graft vs Host Disease
Concept Growth Disorders
Concept Cystic Fibrosis
Concept De Lange Syndrome
Concept Epilepsy
Concept Dwarfism
Concept Fetal Growth Retardation
Concept Hematologic Diseases
Concept Dystonia
Concept Joint Diseases
Concept Carcinoma, Hepatocellular
Concept Hirsutism
Concept Language Development Disorders
Concept Microcephaly
Concept Macroglossia
Concept Neutropenia
Concept Pantothenate Kinase-Associated Neurodegeneration
Concept Intellectual Disability
Concept Mesothelioma
Concept Myelodysplastic Syndromes
Concept Peripheral Nervous System Diseases
Concept Medulloblastoma
Concept Osteonecrosis
Concept Failure to Thrive
Concept Prader-Willi Syndrome
Concept Retinal Degeneration
Concept Spasms, Infantile
Concept Skin Diseases
Concept Syndrome
Concept Trisomy
Concept Angelman Syndrome
Concept Leukemia, Myeloid
Concept Rett Syndrome
Concept Sex Chromosome Disorders
Concept Tonic Pupil
Concept Lymphoma
Concept Vestibular Diseases
Concept Nervous System Malformations
Concept Endometrial Neoplasms
Concept Sequence Deletion
Concept Hepatoblastoma
Concept Craniofacial Abnormalities
Concept Hyperhomocysteinemia
Concept Base Pair Mismatch
Concept Genetic Association Studies
Concept Genetic Diseases, X-Linked
Concept Incidental Findings
Concept Genetic Diseases, Inborn
Concept Dyskinesias
Concept Myopathies, Structural, Congenital
Concept Lissencephaly
Concept Congenital Hyperinsulinism
Concept Agenesis of Corpus Callosum
Concept Colorectal Neoplasms
Concept Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Concept Precursor Cell Lymphoblastic Leukemia-Lymphoma
Concept Hematologic Neoplasms
Concept Neurodegenerative Diseases
Concept Hearing Loss
Concept Diabetes Complications
Concept Chromosome Disorders
Concept Classical Lissencephalies and Subcortical Band Heterotopias
Concept Brain Neoplasms
Concept Diabetes Mellitus
Concept Disease Models, Animal
Concept Hemoglobinuria, Paroxysmal
Concept Infant, Newborn, Diseases
Concept Neoplasms
Concept Seizures
Concept Ocular Motility Disorders
Concept Age of Onset
Concept Neoplasm, Residual
Concept Uniparental Disomy
Concept Rare Diseases
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Academic Article Technical standards and guidelines: molecular genetic testing for ultra-rare disorders.
Academic Article Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
Academic Article NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Academic Article Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
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 Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Academic Article Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Concept Drug-Related Side Effects and Adverse Reactions
Search Criteria
  • Neurogenetic
  • disorders