Author

Eric W. Klee

Mayo Clinic - Cited by 8,065 - Rare Disease - Bioinformatics

Biography

The research interests of Eric W. Klee, Ph.D., are divided primarily between two major areas. First, with the Center for Individualized Medicine and the Department of Laboratory Medicine and Pathology, he leads the bioinformatics initiative centered on discovering how clinicians can apply information gathered from molecular-level data to diagnose and treat individual medical conditions. Second, Dr. Klee is a member of the Mayo Addiction Research Center, where he leads a laboratory team using zebrafish as models to identify novel therapeutic strategies for treating alcohol abuse and tobacco dependence.
Title
Cited by
Year
Design considerations for workflow management systems use in production genomics research and the clinic
AE Ahmed, JM Allen, T Bhat, P Burra, CE Fliege, SN Hart, ...Scientific reports 11 (1), 21680, 2021202
13
2021
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
A Schalk, MA Cousin, NR Dsouza, TD Challman, KE Wain, Z Powis, ...Journal of medical genetics 59 (10), 965-975, 2022202
8
2022
Luminal androgen receptor breast cancer subtype and investigation of the microenvironment and neoadjuvant chemotherapy response
KJ Thompson, RA Leon-Ferre, JP Sinnwell, DM Zahrieh, VJ Suman, ...NAR cancer 4 (2), zcac018, 2022202
7
2022
HELLO: improved neural network architectures and methodologies for small variant calling
A Ramachandran, SS Lumetta, EW Klee, D ChenBMC bioinformatics 22, 1-31, 2021202
6
2021
Autosomal recessive cerebellar atrophy and spastic ataxia in patients with pathogenic biallelic variants in GEMIN5
DS Rajan, S Kour, TR Fortuna, MA Cousin, SS Barnett, Z Niu, ...Frontiers in Cell and Developmental Biology 10, 78372, 2022202
6
2022
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
SL Safgren, RJ Olson, F Pinto e Vairo, ED Bothun, C Hanna, EW Klee, ...American Journal of Medical Genetics Part A 188 (3), 919-925, 2022202
4
2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
SEM Stephenson, G Costain, LER Blok, MA Silk, TB Nguyen, X Dong, ...The American Journal of Human Genetics 109 (), 601-617, 2022202
4
2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
Further clinical and molecular characterization of an XLID syndrome associated with BRWD variants, a gene implicated in the leukemia-related JAK-STAT pathwayJ Delanne, M Lecat, PR Blackburn, EW Klee, CTRM Stumpel, ...European Journal of Medical Genetics 66 (1), 104670, 20220
3
2023
Improved characterization of complex β-globin gene cluster structural variants using long-read sequencing
A Rangan, MS Hein, WG Jenkinson, T Koganti, RA Aleff, CA Hilker, ...The Journal of Molecular Diagnostics 2 (12), 172-1740, 2021202
3
2021
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Gain and loss of TASK channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMA Cousin, EL Veale, NR Dsouza, S Tripathi, RG Holden, M Arelin, ...Genome medicine 14 (1), 1-19, 2022202
3
2022
Expanding the phenotype of DNAJC30‐associated Leigh syndrome
Expanding the phenotype of DNAJC0‐associated Leigh syndromeM Zawadzka, M Krygier, M Pawłowicz, MVMB Wilke, K Rutkowska, ...Clinical Genetics 102 (5), 48-44, 2022202
3
2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
D Marafi, N Kozar, R Duan, S Bradley, K Yokochi, F Al Mutairi, NW Saadi, ...The American Journal of Human Genetics 109 (9), 1713-173, 0
2
2022
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome T Nguyen, A Lau, J Bier, KC Cooke, H Lenthall, S Ruiz-Diaz, DT Avery, ...Journal of Experimental Medicine 0 (6), e0100, 030
2
2023
eP183: Functional assessment of a novel POU4F3 missense variant
eP83: Functional assessment of a novel POU4F3 missense variantE Macke, T Schwab, L Schimmenti, E KleeGenetics in Medicine 24 (3), S3-S4, 2022202
1
2022
εγ-thalassemia, a new hemoglobinopathy category
JL Oliveira, CH Thompson, SA Saravanaperumal, T Koganti, G Jenkinson, ...Clinical Chemistry, hvad038, 2023202
1
2023
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
GM van Woerden, R Senden, C de Konink, RA Trezza, A Baban, ...Human mutation 43 (0), 377-395, 2022202
1
2022
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report
Exome sequencing can misread high variant allele fraction of somatic variants in UBA as hemizygous in VEXAS syndrome: a case reportMVMB Wilke, E Morava-Kozicz, MJ Koster, CT Schmitz, SK Foster, ...BMC rheumatology 6 (), -6, 2022202
1
2022
Genome-wide Analyses of Histone Modifications in the Mammalian Genome
S Tian, SL Slager, EW Klee, H YanHandbook of Epigenetics, 37-6, 2023202
1
2023

Referred From: https://scholar.google.com/citations?user=e-muPF0AAAAJ&hl=en

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Citations 8065
h-index 49
i10-index 141
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