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List of works by Philip Awadalla

A population genetic approach to mapping neurological disorder genes using deep resequencing

scientific article

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

scientific article

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

scientific article

Exploiting gene expression variation to capture gene-environment interactions for disease

scientific article published in 2012

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

scientific article published on 27 February 2016

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

scientific article

Harnessing genomics to identify environmental determinants of heritable disease

journal article published in 2013

Interacting evolutionary pressures drive mutation dynamics and health outcomes in aging blood

scientific article published on 13 August 2021

Recombination affects accumulation of damaging and disease-associated mutations in human populations

scientific article

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 28 September 2015

The impact of recombination on human mutation load and disease.

scientific article published in December 2017

Variation in genome-wide mutation rates within and between human families

scientific article

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans

scientific article

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