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Author Details

Eric W Klee
Mayo Clinic College of Medicine and Science
2001
254
42
PMIDPaper TitleJournal TitlePublished Year
37400488Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG.Eur J Hum Genet2024
37580113Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutations.J Med Genet2024
35923324Genomic epidemiology reveals the dominance of Hennepin County in transmission of SARS-CoV-2 in Minnesota from 2020-2022.medRxiv2023
37750719Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus.J Clin Microbiol2023
37641480A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.Mol Genet Genomic Med2023
37353797Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).J Transl Med2023
37086467εγ-Thalassemia, a New Hemoglobinopathy Category.Clin Chem2023
37046718Machine Learning-Based Radiomic Features on Pre-Ablation MRI as Predictors of Pathologic Response in Patients with Hepatocellular Carcinoma Who Underwent Hepatic Transplant.Cancers (Basel)2023
36943234Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.J Exp Med2023
36974169Identification of <i>AFG3L2</i> dominant optic atrophy following reanalysis of clinical exome sequencing.Am J Ophthalmol Case Rep2023
37235056Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.iScience2023
37167966Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.Am J Hum Genet2023
37398376Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.medRxiv2023
36746809The double-balloon technique: a safe and effective adjunctive technique in patients undergoing arterial therapy for hepatic malignancies with vascular supply not amenable to selective administration.CVIR Endovasc2023
36745126Impact of integrated translational research on clinical exome sequencing.Genet Med2023
34797033De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.Am J Med Genet A2022
35734391Luminal androgen receptor breast cancer subtype and investigation of the microenvironment and neoadjuvant chemotherapy response.NAR Cancer2022
35543142Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.Am J Med Genet A2022
35730929Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.Elife2022
35730652The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.Hum Mutat2022
35344128Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.J Clin Immunol2022
35698242Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.Genome Med2022
35432455Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations.Front Genet2022
35570467Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.Mol Genet Genomic Med2022
35395208Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.Am J Hum Genet2022
35861300Expanding the phenotype of DNAJC30-associated Leigh syndrome.Clin Genet2022
36038944Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report.BMC Rheumatol2022
35962750Supporting Patients with Cancer after Dobbs v. Jackson Women's Health Organization.Oncologist2022
35890355Immune Checkpoint Inhibitor-Mediated Cancer Theranostics with Radiolabeled Anti-Granzyme B Peptide.Pharmaceutics2022
35948005A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.Am J Hum Genet2022
36007674Image-guided intratumoral immunotherapy: Developing a clinically practical technology.Adv Drug Deliv Rev2022
34930816<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability.J Med Genet2022
35295849Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>.Front Cell Dev Biol2022
32646888A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.Haematologica2021
33909990Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.Am J Hum Genet2021
33596411SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.Am J Hum Genet2021
33594907Yttrium-90 Hepatic Radioembolization for Advanced Chemorefractory Metastatic Colorectal Cancer: Survival Outcomes Based on Right- Versus Left-Sided Primary Tumor Location.AJR Am J Roentgenol2021
33861953A form of muscular dystrophy associated with pathogenic variants in JAG2.Am J Hum Genet2021
33779033Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review.Am J Med Genet A2021
33859327Epigenetic alteration contributes to the transcriptional reprogramming in T-cell prolymphocytic leukemia.Sci Rep2021
34915451Pre- and post-treatment image-based dosimetry in<sup>90</sup>Y-microsphere radioembolization using the TOPAS Monte Carlo toolkit.Phys Med Biol2021
34737383Design considerations for workflow management systems use in production genomics research and the clinic.Sci Rep2021
34377961P<sup>2</sup>T<sup>2</sup>: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants.JAMIA Open2021
34695376Combining systemic and local therapies for hepatocellular carcinoma.Lancet Gastroenterol Hepatol2021
34839893Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing.J Mol Diagn2021
34510819Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.Mol Genet Genomic Med2021
34391391HELLO: improved neural network architectures and methodologies for small variant calling.BMC Bioinformatics2021
34746741Genomics Integration Into Nephrology Practice.Kidney Med2021
34745213SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA.Front Genet2021
34686653Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.Blood Cancer J2021
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Michael T Zimmermann
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Pavel N Pichurin
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Konstantinos N Lazaridis
Mayo Clinic
Co-authored papers 19
Matthew J Ferber
Mayo Clinic
Co-authored papers 18
Eric D Wieben
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Jean-Pierre A Kocher
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Garrett Jenkinson
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George G Klee
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Asha A Nair
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Alexander Keith Stewart
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Jennifer B McCormick
Penn State College of Medicine
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Linnea M Baudhuin
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Marco Tartaglia
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Marissa S Ellingson
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Pedram Heidari
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Ingo Helbig
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Suzette J Bielinski
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David A Koolen
Donders Institute for Brain, Radboud University Medical Center
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Francesca Clementina Radio
Ospedale Pediatrico Bambino Gesu IRCCS
Co-authored papers 5
Jon O Ebbert
Mayo Clinic
Co-authored papers 5
Iftikhar J Kullo
Mayo Clinic
Co-authored papers 5
Yan W Asmann
Mayo Clinic
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Evan E Eichler
University of Washington
Co-authored papers 4
Kiley J Johnson
Center for Individualized Medicine, Mayo Clinic Rochester
Co-authored papers 4
Ravinder J Singh
Co-authored papers 4
Joseph H Blommel
Mayo Clinic, Clemson University
Co-authored papers 4
Alan H Bryce
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Release 1.2