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Author Details
Full Name
Andrew Farrell
Affiliation
Utah Center for Genetic Discovery, University of Utah
ORCID
Career Start Year
2012
Papers
17
H Index
10
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
35119225
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Mol Genet Genomic Med
2022
36379720
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndrome.
Cold Spring Harb Mol Case Stud
2022
35184157
TSPAN6 is a suppressor of Ras-driven cancer.
Oncogene
2022
34711268
Novel temporal and spatial patterns of metastatic colonization from breast cancer rapid-autopsy tumor biopsies.
Genome Med
2021
34874774
The Extracellular Milieu of <i>Toxoplasma</i>'s Lytic Cycle Drives Lab Adaptation, Primarily by Transcriptional Reprogramming.
mSystems
2021
32601476
Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Nat Genet
2020
33263113
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.
HGG Adv
2020
30760892
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Genet Med
2019
31575651
Pedigree-based estimation of human mobile element retrotransposition rates.
Genome Res
2019
29700473
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Nat Genet
2018
30244195
Genome sequencing reveals a deep intronic splicing <i>ACVRL1</i> mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
J Med Genet
2018
30109124
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
NPJ Genom Med
2018
26268606
Analysis of archived residual newborn screening blood spots after whole genome amplification.
BMC Genomics
2015
24885922
Whole genome profiling of spontaneous and chemically induced mutations in Toxoplasma gondii.
BMC Genomics
2014
24945800
Forward genetic screening identifies a small molecule that blocks Toxoplasma gondii growth by inhibiting both host- and parasite-encoded kinases.
PLoS Pathog
2014
23837824
Genetic basis for phenotypic differences between different Toxoplasma gondii type I strains.
BMC Genomics
2013
22246776
A DOC2 protein identified by mutational profiling is essential for apicomplexan parasite exocytosis.
Science
2012
1 - 17 of 17
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1
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Daniel Weaver
Beltsville Agricultural Research Center, USDA
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1
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Tomasz J Nowakowski
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