Joseph Tilghman

JOSEPH TILGHMAN
Graduate Student

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I completed a B.S. in Biology at Washington and Lee University prior to beginning the Predoctoral Program in Human Genetics here at Johns Hopkins. I am interested in the detection and classification of functional variation in humans and in detecting instances in which heterogeneous variation converges to confer high disease risk in an individual. In the Chakravarti Lab, I have been focused on the basis of neurodevelopmental disorders – specifically autism. I am using exome and other targeted resequencing of families containing multiple severely autistic girls to identify genes important to autism pathogenesis and to understand the mutational profile that results in severe autism in females.

Selected publications:

Khayat M, Tilghman JM, Chervinsky I, Zalman L, Chakravarti A, Shalev SA. A PIGN mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family. American Journal of Medical Genetics Part A 2016 Jan 1;170(1):176-82.

Watson FL, Schmidt H, Turman ZK, Hole N, Garcia H, Gregg J, Tilghman J, Fradinger EA. Organophosphate pesticides induce morphological abnormalities and decrease locomotor activity and heart rate in Danio rerio and Xenopus laevis. Environmental toxicology and chemistry 2014 Jun 1;33(6):1337-45.

Tilghman JM, Ramee SW, Marsh DM. Meta-analysis of the effects of canopy removal on terrestrial salamander populations in North America. Biological Conservation 2012 Aug 31;152:1-9.