Author details

Full Name

Tim Fennell

Affiliation

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36448669	The patterns and diagnostic significance of the lack of surface immunoglobulin light chain on mature B cells in clinical samples for lymphoma workup.	Cytometry Part B - Clinical Cytometry	2023
36087514	Fast and accurate kinship estimation using sparse SNPs in relatively large database searches.		2022
33876962	CALITAS: A CRISPR-Cas-aware ALigner for off-TArget Search.	CRISPR Journal	2021
32728101	Detecting sample swaps in diverse NGS data types using linkage disequilibrium.	Nat Commun	2020
30664785	Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10.	Nat Med	2019
31005862	MDS with 5q deletion and rare positive mastocytosis: a diagnostic and therapeutic challenge.	BMJ Case Reports	2019
29360107	Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.	Sci Data	2018
29600989	Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo".	Nat Methods	2018
29257133	Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.	Sci Data	2017
28341696	A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.	Diabetes	2017
27535533	Analysis of protein-coding genetic variation in 60,706 humans.	Nature	2016
27398621	The genetic architecture of type 2 diabetes.	Nature	2016
26061751	Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.	N Engl J Med	2015
24584071	Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.	Nat Genet	2014
24463508	A polygenic burden of rare disruptive mutations in schizophrenia.	Nature	2014
24915262	Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.	JAMA	2014
23303777	Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation.	Nucleic Acids Res	2013
23770567	Mutational heterogeneity in cancer and the search for new cancer-associated genes.	Nature	2013
23685885	Comparative analysis of RNA sequencing methods for degraded or low-input samples.	Nat Methods	2013
22622578	Melanoma genome sequencing reveals frequent PREX2 mutations.	Nature	2012
22539670	RNA-SeQC: RNA-seq metrics for quality control and process optimization.	Bioinformatics	2012
22495311	Patterns and rates of exonic de novo mutations in autism spectrum disorders.	Nature	2012
21983784	Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.	Nat Genet	2011
21307934	The genomic complexity of primary human prostate cancer.	Nature	2011
21478889	A framework for variation discovery and genotyping using next-generation DNA sequencing data.	Nat Genet	2011
21205303	A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries.	Genome Biol	2011
21338519	Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries.	Genome Biol	2011
21803805	ContEst: estimating cross-contamination of human samples in next-generation sequencing data.	Bioinformatics	2011
21835008	Hybrid selection for sequencing pathogen genomes from clinical samples.	Genome Biol	2011
20582916	Targeted exon sequencing by in-solution hybrid selection.	Curr Protoc Hum Genet	2010
21118569	High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5.	BMC Genet	2010
20942659	Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.	N Engl J Med	2010
20601955	Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.	Nat Genet	2010
19835606	Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts.	Genome Biol	2009
19182786	Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.	Nat Biotechnol	2009
19306470	Rupture of the fetal abdomen in prune belly syndrome.	Ultrasound in Obstetrics and Gynecology	2009
19505943	The Sequence Alignment/Map format and SAMtools.	Bioinformatics	2009
18552176	Drug-sensitive FGFR2 mutations in endometrial carcinoma.	Proc Natl Acad Sci U S A	2008
18948947	Somatic mutations affect key pathways in lung adenocarcinoma.	Nature	2008