Dr. Talkowski received a Ph.D. in human genetics and performed his postdoctoral training in neurodevelopmental genomics. The Talkowski laboratory is interested in understanding the consequence of genomic variation on human disease. We study the genetic etiology of disorders affecting prenatal, neonatal, and early childhood development, particularly autism spectrum disorder (ASD) and related neurodevelopmental and psychiatric disorders.

Questions being addressed in the lab

  1. Characterization of genome structure and function
  2. Discovery of genes associated with human disease and the functional consequences of genetics lesions
  3. Translation of emerging technologies to new diagnostic methods for genomic medicine

Projects underway to answer these questions

  1. Characterization of structural variation contributing to human disease.

     

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  3. Functional genomic modeling of reciprocal genomic disorders

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  5. Implementation of Genomic Medicine: Whole-genome Sequencing of a Fetus in Prenatal Diagnostics Detects a Balanced Rearrangement

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Answers Found

  1. Discovery of abundant classes of complex SVs in autism probands

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  3. Chromosome shattering occurs in the human germline

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  5. Chromosomal rearrangements disrupt three-dimensional genome structure

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Highlighted Publications from the lab


The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
January, 2017

Mutations in DCHS1 cause mitral valve prolapse
September, 2015