Eric W. Klee
Reproducibility track record
1
assessed papers
57/100
mean reproducibility
0
reproduced (C1–C2)
0
flagged
0
total citations
flag rate:
0%
(0/1)
The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.
Authorship role
first author: 0
last author: 0
Topics
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Funders
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Frequent co-authors
Dave Deandre Istanto 1Michael T. Kalmbach 1Steven N. Hart 1Jacob R. Heldenbrand 1Christian Roß 1Azza E. Ahmed 1Sami M. Sharif 1Ramshankar Venkatakrishnan 1Tajesvi Bhat 1Nate Mattson 1
Institutions
University of Khartoum 1University of Groningen 1University of Illinois Urbana-Champaign 1National Center for Supercomputing Applications 1University of California, Berkeley 1Mayo Clinic 1
Geography (author institutions)
SD 1NL 1US 1
Co-author network
Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.
How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.
Assessed papers (1)
Complete publication record (462)
Request a reproduction →1 assessed by us (0 reproduced) · 461 not yet assessed — every PubMed paper on record, linked below.
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Germline Variants in Chronic Pancreatitis-Associated Genes and Risk of Pancreatic Ductal Adenocarcinoma ↗Clinical Gastroenterology and Hepatology · 2026 · PMID 42019862not yet assessed
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Interpretable variant effect prediction from genomic foundation model representations ↗bioRxiv (Cold Spring Harbor Laboratory) · 2026not yet assessed
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EVEE: Interpretable variant effect prediction from genomic foundation model embeddings ↗Zenodo (CERN European Organization for Nuclear Research) · 2026not yet assessed
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Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA ‐Seq and Long‐Read Genomics ↗Clinical Genetics · 2026 · PMID 42023422not yet assessed
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EVEE: Interpretable variant effect prediction from genomic foundation model embeddings ↗Zenodo (CERN European Organization for Nuclear Research) · 2026not yet assessed
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A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review ↗Clinical Genetics · 2026 · PMID 42386221not yet assessed
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Machine Learning With Genetic and Clinical Data to Predict Ischemic Outcomes After PCI ↗Clinical and Translational Science · 2026 · PMID 42427167not yet assessed
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Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants ↗Journal of Molecular Diagnostics · 2026 · PMID 42431396not yet assessed
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Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression ↗Nature Communications · 2026not yet assessed
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A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies ↗Clinical Genetics · 2026 · PMID 42713681not yet assessed
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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser ↗Genome Medicine · 2025 · PMID 41121346not yet assessed
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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations ↗Nature Communications · 2025 · PMID 40770127not yet assessed
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Individualized Medicine in the Era of Artificial Intelligence ↗Mayo Clinic Proceedings · 2025 · PMID 41037050not yet assessed
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Clinical Bioinformatician Body of Knowledge—Bioinformatics and Software Core ↗Journal of Molecular Diagnostics · 2025 · PMID 40398560not yet assessed
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Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members ↗JACC Advances · 2025 · PMID 40712265not yet assessed
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Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing ↗Genetics in Medicine · 2025 · PMID 40757397not yet assessed
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Discovery of a MET-driven monogenic cause of steatotic liver disease ↗Hepatology · 2025 · PMID 39879586not yet assessed
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A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditions ↗BMC Bioinformatics · 2025 · PMID 40087567not yet assessed
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UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP ↗Genomics Proteomics & Bioinformatics · 2025 · PMID 40300108not yet assessed
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Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System ↗Circulation Genomic and Precision Medicine · 2025 · PMID 41221644not yet assessed
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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients ↗BioData Mining · 2025 · PMID 39825393not yet assessed
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Novel Identification of Genetic Variants in Musculoskeletal Pathways Implicated in Familial Femoroacetabular Impingement ↗Journal of Orthopaedic Research® · 2025 · PMID 41110123not yet assessed
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P528: Utilizing long-read sequencing technologies to enable discovery of disease genes associated with complex neurological phenotypes ↗Genetics in Medicine Open · 2025not yet assessed
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Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder ↗Genetics in Medicine Open · 2025 · PMID 40469904not yet assessed
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Luminal androgen receptor breast cancer subtype and investigation of the microenvironment and neoadjuvant chemotherapy response ↗Carolina Digital Repository (University of North Carolina at Chapel Hill) · 2025not yet assessed
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P643: Mobile element insertion detection in genome sequencing of a cohort of unsolved cases ↗Genetics in Medicine Open · 2025not yet assessed
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P524: Leveraging DNA methylation towards comprehensive rare disease diagnostics ↗Genetics in Medicine Open · 2025not yet assessed
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P193: Prevalence, penetrance, and phenotypic expression of cardiomyopathy-associated genetic variants in a quaternary medical center-based biobank ↗Genetics in Medicine Open · 2025not yet assessed
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O18: BabyFORce: A pioneering program translating variants identified via rapid genome sequencing to targeted therapeutics for neonatal intensive care unit patients ↗Genetics in Medicine Open · 2025not yet assessed
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O61: Intragenic DMD duplications should not be presumed to be likely pathogenic: Findings from long-read sequencing ↗Genetics in Medicine Open · 2025not yet assessed
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Genomic profiling reveals molecular heterogeneity in patients with Richter transformation (RT) and chronic lymphocytic leukemia (CLL) ↗medRxiv · 2025not yet assessed
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PREVALENCE, PENETRANCE, AND PHENOTYPIC EXPRESSION OF CARDIOMYOPATHYASSOCIATED GENETIC VARIANTS IN A QUATERNARY MEDICAL CENTER-BASED BIOBANK ↗Journal of the American College of Cardiology · 2025not yet assessed
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ASSESSING GENOMIC LANGUAGE MODELS ON PREDICTING MORTALITY FROM CARDIOMYOPATHY-ASSOCIATED GENETIC VARIANTS ↗Journal of the American College of Cardiology · 2025not yet assessed
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PREDICTORS OF CARDIOMYOPATHY DEVELOPMENT IN FAMILY MEMBERS OF ATTRV PROBANDS AND THE ROLE OF ARTIFICIAL INTELLIGENCE ENABLED ELECTROCARDIOGRAPHY ↗Journal of the American College of Cardiology · 2025not yet assessed
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PHENOTYPIC PRESENTATION OF FAMILY MEMBERS OF ATTRV PROBANDS AND SUBSEQUENT DISEASE PENETRANCE ↗Journal of the American College of Cardiology · 2025not yet assessed
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Mucopolysaccharidosis Type IIIA Presenting as Hypertrophic Cardiomyopathy ↗Circulation Heart Failure · 2025 · PMID 40160092not yet assessed
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Abstract 2429: A multi-modal learning framework to integrate digital pathology image and multi-omics data in breast cancer ↗Cancer Research · 2025not yet assessed
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A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1 ↗BMC Medical Genomics · 2025 · PMID 40420130not yet assessed
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Exome sequencing identifies genetic-positive familial hypercholesterolemia within a multi-site healthcare system ↗Journal of clinical lipidology · 2025not yet assessed
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POS1370 TOWARDS REVOLUTIONIZING RHEUMATOID ARTHRITIS CARE USING GENETIC INFORMATION VIA A NOVEL EXOMIC TRANSFORMER ↗Annals of the Rheumatic Diseases · 2025not yet assessed
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Significance of Common Genetic Variants Associated with Non-Ischaemic Cardiomyopathy in the General Population ↗European Journal of Heart Failure · 2025 · PMID 40549485not yet assessed
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The Association of a Polygenic Risk Score with Diagnosis and Mortality in Idiopathic Pulmonary Fibrosis ↗SSRN Electronic Journal · 2025not yet assessed
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Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report ↗American Journal of Medical Genetics Part A · 2025 · PMID 40799153not yet assessed
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PNPLA3 Gene Polymorphisms Affect MASLD Progression Severity Assessed by MRE in a Large Cohort of Clinical Patients ↗Proceedings on CD-ROM - International Society for Magnetic Resonance in Medicine. Scientific Meeting and Exhibition/Proceedings of the International Society for Magnetic Resonance in Medicine, Scientific Meeting and Exhibition · 2025not yet assessed
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B-223 DMD Duplications Identified by Carrier Screening Should NOT Automatically Be Classified as [Likely] Pathogenic: Data from Long-Read Sequencing of 15 Cases ↗Clinical Chemistry · 2025not yet assessed
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Genomic profiling reveals molecular heterogeneity in patients with Richter transformation (RT) and chronic lymphocytic leukemia (CLL) ↗Leukemia Research · 2025 · PMID 41260131not yet assessed
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Enhancing Lung Cancer Treatment Outcome Prediction through Semantic Feature Engineering Using Large Language ModelsarXiv (Cornell University) · 2025not yet assessed
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The expanding clinical and genetic spectrum of DYNC1H1 -related disorders ↗Brain · 2024 · PMID 38848546not yet assessed
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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway ↗The American Journal of Human Genetics · 2024 · PMID 39419027not yet assessed
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles ↗Human Genetics and Genomics Advances · 2024 · PMID 38553851not yet assessed
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Mayo Clinic Tapestry Study ↗Mayo Clinic Proceedings · 2024 · PMID 39625429not yet assessed
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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity ↗Brain · 2024 · PMID 38884572not yet assessed
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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder ↗Annals of Neurology · 2024 · PMID 39301775not yet assessed
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OmicsFootPrint: a framework to integrate and interpret multi-omics data using circular images and deep neural networks ↗Nucleic Acids Research · 2024 · PMID 39445795not yet assessed
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A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants ↗Genes · 2024 · PMID 39202393not yet assessed
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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease ↗BMC Genomics · 2024 · PMID 38627676not yet assessed
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Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases ↗Orphanet Journal of Rare Diseases · 2024 · PMID 38790019not yet assessed
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Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations ↗JCO Precision Oncology · 2024 · PMID 39013133not yet assessed
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A supervised learning method for classifying methylation disorders ↗BMC Bioinformatics · 2024 · PMID 38347515not yet assessed
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Expanding Upon Genomics in Rare Diseases: Epigenomic Insights ↗International Journal of Molecular Sciences · 2024 · PMID 39795993not yet assessed
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Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders ↗European Journal of Human Genetics · 2024 · PMID 38702431not yet assessed
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Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study ↗Mayo Clinic Proceedings · 2024 · PMID 39387793not yet assessed
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Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome ↗American Journal of Medical Genetics Part A · 2024 · PMID 38234180not yet assessed
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Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome ↗Genes · 2024 · PMID 38255001not yet assessed
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies ↗npj Genomic Medicine · 2024 · PMID 38429302not yet assessed
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P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections ↗Genetics in Medicine Open · 2024not yet assessed
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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data ↗Human Genetics · 2024 · PMID 38538918not yet assessed
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Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters ↗European Journal of Human Genetics · 2024 · PMID 39643666not yet assessed
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OmicsFootPrint: a framework to integrate and interpret multi-omics data using circular images and deep neural networks ↗bioRxiv (Cold Spring Harbor Laboratory) · 2024 · PMID 38585820not yet assessed
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Adaptor protein 2 sigma subunit ( AP2S1 ) variants associated with neurodevelopmental disorders ↗medRxiv · 2024not yet assessed
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P154: The second known case of CNP-related hypomyelinating leukodystrophy is diagnosed by RNA-seq and demonstrates an abnormal blood methylation profile* ↗Genetics in Medicine Open · 2024not yet assessed
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P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases ↗Genetics in Medicine Open · 2024not yet assessed
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P485: Navigating the genetic odyssey: Enhancing early recognition and referral for precise diagnosis through human phenotype analysis ↗Genetics in Medicine Open · 2024not yet assessed
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P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype ↗Genetics in Medicine Open · 2024not yet assessed
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P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases ↗Genetics in Medicine Open · 2024not yet assessed
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An adult with acylglycerol kinase deficiency ↗Molecular Genetics and Metabolism · 2024not yet assessed
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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway ↗medRxiv · 2024not yet assessed
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Unified somatic calling and machine learning-based classification enhance the discovery of clonal hematopoiesis of indeterminate potential ↗bioRxiv (Cold Spring Harbor Laboratory) · 2024not yet assessed
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Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) ↗Journal of Translational Medicine · 2024 · PMID 38689323not yet assessed
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Su1486 GERMLINE VARIANTS OF CANCER-PREDISPOSITION GENES IN PATIENTS WITH PSC-IBD ↗Gastroenterology · 2024not yet assessed
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Clonal dynamics of Richter transformation in chronic lymphocytic leukemia ↗Hematological Oncology · 2024 · PMID 38852069not yet assessed
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Author response for "Clonal dynamics of Richter transformation in chronic lymphocytic leukemia" ↗2024not yet assessed
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Phenotypic presentation of family members of ATTRv probands and subsequent disease penetrance ↗medRxiv · 2024not yet assessed
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Withdrawn: Genomic Profiling Reveals Molecular Heterogeneity in Patients with Richter Transformation (RT) and Chronic Lymphocytic Leukemia (CLL) ↗Preprints.org · 2024not yet assessed
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Bi-allelic variants in INTS11 are associated with a complex neurological disorder ↗The American Journal of Human Genetics · 2023 · PMID 37054711not yet assessed
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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes ↗iScience · 2023 · PMID 37235056not yet assessed
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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy ↗The American Journal of Human Genetics · 2023 · PMID 37167966not yet assessed
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Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2 ↗The Journal of Experimental Medicine · 2023 · PMID 36943234not yet assessed
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Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus ↗Journal of Clinical Microbiology · 2023 · PMID 37750719not yet assessed
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Impact of integrated translational research on clinical exome sequencing ↗Genetics in Medicine · 2023 · PMID 36745126not yet assessed
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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) ↗Journal of Translational Medicine · 2023 · PMID 37353797not yet assessed
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Impact of Anxiety During Hospitalization on the Clinical Outcome of Patients With Osteoporotic Thoracolumbar Vertebral Fracture ↗Global Spine Journal · 2023 · PMID 37549640not yet assessed
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations ↗Journal of Medical Genetics · 2023 · PMID 37580113not yet assessed
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εγ-Thalassemia, a New Hemoglobinopathy Category ↗Clinical Chemistry · 2023 · PMID 37086467not yet assessed
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A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report ↗Molecular Genetics & Genomic Medicine · 2023 · PMID 37641480not yet assessed
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Genomic epidemiology reveals the dominance of Hennepin County in the transmission of SARS-CoV-2 in Minnesota from 2020 to 2022 ↗mSphere · 2023 · PMID 37882516not yet assessed
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Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing ↗American Journal of Ophthalmology Case Reports · 2023 · PMID 36974169not yet assessed
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P341: Identification of novel variants and phenotypic expansion in OGT-CDG ↗Genetics in Medicine Open · 2023not yet assessed
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Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder ↗medRxiv · 2023 · PMID 37398376not yet assessed
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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) ↗Research Square · 2023not yet assessed
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P327: Proof of concept core biopsy technique of vascular malformations for DNA and RNA sequencing with novel identification of PKD1 variant ↗Genetics in Medicine Open · 2023not yet assessed
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O50: A RENEW’d strategy to ending the diagnostic odyssey: Semi-automated REanalysis of NEgative Whole exome/genome cases* ↗Genetics in Medicine Open · 2023not yet assessed
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P651: Early results from a multiomics cohort: Unique RIPK1 fusions identified in two individuals with irritable bowel disease ↗Genetics in Medicine Open · 2023not yet assessed
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P570: Getting it right on the first test: Machine learning plus genome-wide methylation profiling resolves equivocal cases of Beckwith-Wiedemann syndrome ↗Genetics in Medicine Open · 2023not yet assessed
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P459: Exome sequencing analysis reveals enrichment of variants in known autosomal dominant hearing loss genes in patients with presbycusis ↗Genetics in Medicine Open · 2023not yet assessed
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P586: Additional diagnoses through next-generation sequencing in cases initially considered solved by cytogenetics analysis ↗Genetics in Medicine Open · 2023not yet assessed
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Supplementary Table 1B from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 4A from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 5 from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 1C from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 1D from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 4D from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 4C from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 3 from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 1A from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 4B from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 2 from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 6 from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 4B from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 5 from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 6 from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 1B from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 1D from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 1C from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 3 from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 4C from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 1A from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 4D from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 2 from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Supplementary Table 4A from Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗2023not yet assessed
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Abstract 5768: Genetic screening in a tertiary medical center identifies carriers of cancer predisposition diseases that would be missed by clinical guidelines ↗Cancer Research · 2023not yet assessed
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Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG ↗European Journal of Human Genetics · 2023 · PMID 37400488not yet assessed
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Semiautomated approach focused on new genomic information results in time and effort- efficient reannotation of negative exome data ↗Research Square · 2023not yet assessed
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Leigh-like syndrome as a presentation of biallelic variants in DNAJC30 gene with predominant putamen degeneration and limb dystonia ↗Parkinsonism & Related Disorders · 2023not yet assessed
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Deep Phenotyping of Non-Alcoholic Fatty Liver Disease Patients with Genetic Factors for Insights into the Complex Disease ↗arXiv (Cornell University) · 2023not yet assessed
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PD-1 Expression in Lymphoma Cells Mediates Cellular Proliferation By Engaging Phosphatase SHP-1/SHP-2 ↗Blood · 2023not yet assessed
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Distribution of Chromosome-Arm Specific Telomere Length in Patients with Telomere Biology Disorders ↗Blood · 2023not yet assessed
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Abstract 15195: Utility of a Polygenic Risk Score for Dilated Cardiomyopathy in the General Population ↗Circulation · 2023not yet assessed
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Luminal androgen receptor breast cancer subtype and investigation of the microenvironment and neoadjuvant chemotherapy response ↗NAR Cancer · 2022 · PMID 35734391not yet assessed
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ↗The American Journal of Human Genetics · 2022 · PMID 35395208not yet assessed
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Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation ↗eLife · 2022 · PMID 35730929not yet assessed
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome ↗Genome Medicine · 2022 · PMID 35698242not yet assessed
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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations ↗Human Mutation · 2022 · PMID 35730652not yet assessed
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Expanding the phenotype of DNAJC30 ‐ associated Leigh syndrome ↗Clinical Genetics · 2022 · PMID 35861300not yet assessed
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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders ↗American Journal of Medical Genetics Part A · 2022 · PMID 35543142not yet assessed
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode ↗The American Journal of Human Genetics · 2022 · PMID 35948005not yet assessed
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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5 ↗Frontiers in Cell and Developmental Biology · 2022 · PMID 35295849not yet assessed
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Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report ↗BMC Rheumatology · 2022 · PMID 36038944not yet assessed
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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway ↗European Journal of Medical Genetics · 2022 · PMID 36414205not yet assessed
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Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome ↗Molecular Genetics & Genomic Medicine · 2022 · PMID 35570467not yet assessed
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Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar ↗Journal of Clinical Immunology · 2022 · PMID 35344128not yet assessed
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Genome-wide Analyses of Histone Modifications in the Mammalian Genome ↗Elsevier eBooks · 2022not yet assessed
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BOREALIS: an R/Bioconductor package to detect outlier methylation from bisulfite sequencing data ↗F1000Research · 2022not yet assessed
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eP183: Functional assessment of a novel POU4F3 missense variant ↗Genetics in Medicine · 2022not yet assessed
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Detection of outlier methylation from bisulfite sequencing data with novel Bioconductor package BOREALIS ↗bioRxiv (Cold Spring Harbor Laboratory) · 2022not yet assessed
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Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations ↗Frontiers in Genetics · 2022 · PMID 35432455not yet assessed
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BOREALIS Power Analysis Code and Data ↗Zenodo (CERN European Organization for Nuclear Research) · 2022not yet assessed
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eP383: Mayo Clinic GeneGuide: A population-scale genetic interpretation software for reporting pathogenic and likely pathogenic variants impacting the CDC Tier1 genes ↗Genetics in Medicine · 2022not yet assessed
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Genomic epidemiology reveals the dominance of Hennepin County in transmission of SARS-CoV-2 in Minnesota from 2020-2022 ↗medRxiv · 2022 · PMID 35923324not yet assessed
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A Genotype-First Approach in Individuals with Variable Intellectual Disability Permits BRWD3 Mutations’ Diagnosis ↗SSRN Electronic Journal · 2022not yet assessed
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eP158: The utility of transcriptomics to increase diagnostic yield in cases of rare genetic disease ↗Genetics in Medicine · 2022not yet assessed
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List of contributors ↗Elsevier eBooks · 2022not yet assessed
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BOREALIS Power Analysis Code and Data ↗Zenodo (CERN European Organization for Nuclear Research) · 2022not yet assessed
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Additional file 2 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome ↗Figshare · 2022not yet assessed
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome ↗Nature Genetics · 2021 · PMID 34211179not yet assessed
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females ↗The American Journal of Human Genetics · 2021 · PMID 33596411not yet assessed
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One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation ↗Genetics in Medicine · 2021 · PMID 34007000not yet assessed
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ↗The American Journal of Human Genetics · 2021 · PMID 33909990not yet assessed
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Design considerations for workflow management systems use in production genomics research and the clinicScientific Reports · 2021 · PMID 34737383L1 57/100
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila ↗The American Journal of Human Genetics · 2021 · PMID 34314705not yet assessed
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A form of muscular dystrophy associated with pathogenic variants in JAG2 ↗The American Journal of Human Genetics · 2021 · PMID 33861953not yet assessed
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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity ↗Epilepsia · 2021 · PMID 34041744not yet assessed
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COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation ↗Journal of Medical Internet Research · 2021 · PMID 34449401not yet assessed
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Genomics Integration Into Nephrology Practice ↗Kidney Medicine · 2021 · PMID 34746741not yet assessed
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability ↗Journal of Medical Genetics · 2021 · PMID 34930816not yet assessed
-
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study ↗American Journal of Medical Genetics Part A · 2021 · PMID 34042254not yet assessed
-
HELLO: improved neural network architectures and methodologies for small variant calling ↗BMC Bioinformatics · 2021 · PMID 34391391not yet assessed
-
Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths ↗Blood Cancer Journal · 2021 · PMID 34686653not yet assessed
-
SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA ↗Frontiers in Genetics · 2021 · PMID 34745213not yet assessed
-
LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth ↗PLoS ONE · 2021 · PMID 34033669not yet assessed
-
Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing ↗Journal of Molecular Diagnostics · 2021 · PMID 34839893not yet assessed
-
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder ↗Brain Sciences · 2021 · PMID 34356165not yet assessed
-
A form of muscular dystrophy associated with pathogenic variants in JAG2 ↗The American Journal of Human Genetics · 2021not yet assessed
-
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype ↗American Journal of Medical Genetics Part A · 2021 · PMID 34797033not yet assessed
-
Neptune: an environment for the delivery of genomic medicine ↗Genetics in Medicine · 2021 · PMID 34257418not yet assessed
-
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants ↗Molecular Genetics & Genomic Medicine · 2021 · PMID 34510819not yet assessed
-
Epigenetic alteration contributes to the transcriptional reprogramming in T-cell prolymphocytic leukemia ↗Scientific Reports · 2021 · PMID 33859327not yet assessed
-
Recurrent ganglioneuroma in PTPN11 ‐associated Noonan syndrome: A case report and literature review ↗American Journal of Medical Genetics Part A · 2021 · PMID 33779033not yet assessed
-
P2T2: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants ↗JAMIA Open · 2021 · PMID 34377961not yet assessed
-
Design considerations for workflow management systems use in production genomics research and the clinic ↗bioRxiv (Cold Spring Harbor Laboratory) · 2021not yet assessed
-
Universally Rank Consistent Ordinal Regression in Neural Networks ↗arXiv (Cornell University) · 2021not yet assessed
-
Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation ↗bioRxiv (Cold Spring Harbor Laboratory) · 2021not yet assessed
-
Pathogenic Mutations in the Chromokinesin KIF22 Disrupt Anaphase Chromosome Segregation ↗Biophysical Journal · 2021not yet assessed
-
95233 Analysis of 5'UTR Variation in Rare Disease Patients Reveals Variants of Potential Disease Relevance ↗Journal of Clinical and Translational Science · 2021not yet assessed
-
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome ↗Molecular Genetics and Metabolism · 2021not yet assessed
-
Mate-pair sequencing and RNA sequencing to aid in the diagnosis of a patient with a balanced translocation ↗Molecular Genetics and Metabolism · 2021not yet assessed
-
Abstract 2119: Genome-wide epigenetic alterations in T-cell prolymphocytic leukemia ↗Cancer Research · 2021not yet assessed
-
not yet assessed
-
not yet assessed
-
Genome-wide detection of tandem DNA repeats that are expanded in autism ↗Nature · 2020 · PMID 32717741not yet assessed
-
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development ↗Neuron · 2020 · PMID 32135084not yet assessed
-
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease ↗npj Genomic Medicine · 2020 · PMID 33110627not yet assessed
-
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases ↗Bioinformatics · 2020 · PMID 32315392not yet assessed
-
Impact of integrated translational research on clinical exome sequencing ↗Genetics in Medicine · 2020 · PMID 33144682not yet assessed
-
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns ↗Genetics in Medicine · 2020 · PMID 33144681not yet assessed
-
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy ↗Nature Communications · 2020 · PMID 32001716not yet assessed
-
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome ↗European Journal of Human Genetics · 2020 · PMID 32483341not yet assessed
-
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome ↗Acta Neuropathologica · 2020 · PMID 33015733not yet assessed
-
The Undiagnosed Diseases Network International: Five years and more! ↗Molecular Genetics and Metabolism · 2020 · PMID 32033911not yet assessed
-
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature ↗European Journal of Human Genetics · 2020 · PMID 32005960not yet assessed
-
Protein‐elongating mutations inMYH11are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease ↗Human Mutation · 2020 · PMID 31944481not yet assessed
-
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy ↗Genetics in Medicine · 2020 · PMID 32366965not yet assessed
-
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1 ↗JIMD Reports · 2020 · PMID 32395406not yet assessed
-
SPECC1L regulates palate development downstream of IRF6 ↗Human Molecular Genetics · 2020 · PMID 31943082not yet assessed
-
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report ↗BMC Nephrology · 2020 · PMID 32791958not yet assessed
-
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype ↗Molecular Genetics and Metabolism · 2020 · PMID 33187827not yet assessed
-
Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research ↗Frontiers in Genetics · 2020 · PMID 32180803not yet assessed
-
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report ↗BMC Medical Genetics · 2020 · PMID 33167890not yet assessed
-
Haploinsufficiency as a disease mechanism in GNB1 ‐associated neurodevelopmental disorder ↗Molecular Genetics & Genomic Medicine · 2020 · PMID 32918542not yet assessed
-
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder ↗Genetics in Medicine · 2020 · PMID 33173220not yet assessed
-
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients ↗British Journal of Haematology · 2020 · PMID 32567678not yet assessed
-
Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD ↗American Journal of Medical Genetics Part A · 2020 · PMID 32815268not yet assessed
-
Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes ↗Blood Cancer Journal · 2020 · PMID 33203829not yet assessed
-
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures ↗European Journal of Medical Genetics · 2020 · PMID 31954878not yet assessed
-
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics ↗Cardiovascular Drugs and Therapy · 2020 · PMID 32623598not yet assessed
-
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome ↗Clinical Genetics · 2020 · PMID 32415735not yet assessed
-
Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia ↗Molecular Genetics & Genomic Medicine · 2020 · PMID 32597037not yet assessed
-
Expansion of PURA -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report ↗Child Neurology Open · 2020 · PMID 33117858not yet assessed
-
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype ↗Haematologica · 2020 · PMID 32646888not yet assessed
-
An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid ↗Human Genetics and Genomics Advances · 2020 · PMID 35047830not yet assessed
-
Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa ↗Thrombosis Research · 2020 · PMID 32721632not yet assessed
-
Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn’s Disease ↗Journal of Clinical Immunology · 2020 · PMID 32720229not yet assessed
-
not yet assessed
-
not yet assessed
-
HELLO: A hybrid variant calling approach ↗bioRxiv (Cold Spring Harbor Laboratory) · 2020not yet assessed
-
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C ↗Molecular Case Studies · 2020 · PMID 32843428not yet assessed
-
Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome ↗medRxiv · 2020not yet assessed
-
RNF213 variation, a broader role in neurovascular disease in Caucasian and Japanese populations ↗bioRxiv (Cold Spring Harbor Laboratory) · 2020not yet assessed
-
Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants ↗Genetics in Medicine · 2020 · PMID 32814847not yet assessed
-
Comparative analysis of workflow management systems in production genomics research and the clinic ↗2020not yet assessed
-
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability ↗bioRxiv (Cold Spring Harbor Laboratory) · 2020not yet assessed
-
Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signaturesUniversity of Southern Denmark Research Portal (University of Southern Denmark) · 2020not yet assessed
-
Cover ↗Molecular Genetics & Genomic Medicine · 2020not yet assessed
-
Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy ↗Frontiers in Genetics · 2019 · PMID 31481971not yet assessed
-
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders ↗Nature Communications · 2019 · PMID 31300657not yet assessed
-
Genomic and Phenotypic Characterization of a Broad Panel of Patient-Derived Xenografts Reflects the Diversity of Glioblastoma ↗Clinical Cancer Research · 2019 · PMID 31852831not yet assessed
-
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network ↗The American Journal of Human Genetics · 2019 · PMID 31447099not yet assessed
-
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy ↗Journal of Clinical Investigation · 2019 · PMID 30620337not yet assessed
-
Recommendations for performance optimizations when using GATK3.8 and GATK4 ↗BMC Bioinformatics · 2019 · PMID 31703611not yet assessed
-
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ↗Genetics in Medicine · 2019 · PMID 31239556not yet assessed
-
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling ↗Biological Psychiatry · 2019 · PMID 31443933not yet assessed
-
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability ↗American Journal of Medical Genetics Part A · 2019 · PMID 30734472not yet assessed
-
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities ↗The American Journal of Human Genetics · 2019 · PMID 31204009not yet assessed
-
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability ↗The American Journal of Human Genetics · 2019 · PMID 30827496not yet assessed
-
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations ↗Journal of Bone and Mineral Research · 2019 · PMID 31826312not yet assessed
-
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms ↗European Journal of Human Genetics · 2019 · PMID 30679813not yet assessed
-
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency ↗Genetics in Medicine · 2019 · PMID 31578471not yet assessed
-
Clinical spectrum of STX1B-related epileptic disordersKölner Universitäts PublikationsServer (Universität zu Köln) · 2019not yet assessed
-
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias ↗Mayo Clinic Proceedings · 2019 · PMID 31256854not yet assessed
-
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease ↗PLoS ONE · 2019 · PMID 31577830not yet assessed
-
Variants in DOCK3 cause developmental delay and hypotonia ↗European Journal of Human Genetics · 2019 · PMID 30976111not yet assessed
-
Molecular modeling of LDLR aids interpretation of genomic variants ↗Journal of Molecular Medicine · 2019 · PMID 30778614not yet assessed
-
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification ↗American Journal of Medical Genetics Part A · 2019 · PMID 31240838not yet assessed
-
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism ↗European Journal of Medical Genetics · 2019 · PMID 31778854not yet assessed
-
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas ↗Molecular Genetics & Genomic Medicine · 2019 · PMID 30632316not yet assessed
-
Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association ↗Neurogastroenterology & Motility · 2019 · PMID 30663199not yet assessed
-
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity ↗The Journal of Clinical Endocrinology & Metabolism · 2019 · PMID 31872862not yet assessed
-
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases ↗European Journal of Human Genetics · 2019 · PMID 31053785not yet assessed
-
Aurora kinase B-phosphorylated HP1α functions in chromosomal instability ↗Cell Cycle · 2019 · PMID 31130069not yet assessed
-
X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia ↗Journal of Neuropathology & Experimental Neurology · 2019 · PMID 30990878not yet assessed
-
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ↗The American Journal of Human Genetics · 2019not yet assessed
-
Modeling post‐translational modifications and cancer‐associated mutations that impact the heterochromatin protein 1α‐importin α heterodimers ↗Proteins Structure Function and Bioinformatics · 2019 · PMID 31152607not yet assessed
-
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants ↗Clinical Case Reports · 2019 · PMID 30997052not yet assessed
-
Three rare disease diagnoses in one patient through exome sequencing ↗Molecular Case Studies · 2019 · PMID 31427378not yet assessed
-
An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I ↗Molecular Case Studies · 2019 · PMID 31662300not yet assessed
-
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy ↗Molecular Case Studies · 2019 · PMID 31604776not yet assessed
-
Correction to: Recommendations for performance optimizations when using GATK3.8 and GATK4 ↗BMC Bioinformatics · 2019 · PMID 31847808not yet assessed
-
Long Range Sequencing Shows Improved Resolution in the Detection of Beta Globin Cluster Variants ↗Blood · 2019not yet assessed
-
not yet assessed
-
Clinical Utility of Telomere Length-Directed Genomic Assessment in Patients with Short Telomere Syndromes ↗Blood · 2019not yet assessed
-
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018)The American Journal of Human Genetics · 2019not yet assessed
-
Abstract 14397: Novel CYP2C19 Genetic Variants Associated With Stent Thrombosis - A Next Generation Sequencing StudyCirculation · 2019not yet assessed
-
not yet assessed
-
Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes ↗Nature Communications · 2018 · PMID 29773832not yet assessed
-
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome ↗The American Journal of Human Genetics · 2018 · PMID 29606302not yet assessed
-
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ↗The American Journal of Human Genetics · 2018 · PMID 30343943not yet assessed
-
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants ↗Genetics in Medicine · 2018 · PMID 30245513not yet assessed
-
Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors ↗Journal of Molecular Diagnostics · 2018 · PMID 29929942not yet assessed
-
Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants ↗Otology & Neurotology · 2018 · PMID 30106846not yet assessed
-
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies ↗Journal of Clinical Immunology · 2018 · PMID 29671115not yet assessed
-
Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes ↗Mayo Clinic Proceedings · 2018 · PMID 29976374not yet assessed
-
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants ↗European Journal of Human Genetics · 2018 · PMID 30097616not yet assessed
-
A case of YY1‐associated syndromic learning disability or Gabriele‐de Vries syndrome with myasthenia gravis ↗American Journal of Medical Genetics Part A · 2018 · PMID 30549423not yet assessed
-
PCNT point mutations and familial intracranial aneurysms ↗Neurology · 2018 · PMID 30413633not yet assessed
-
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties ↗Frontiers in Genetics · 2018 · PMID 30090112not yet assessed
-
Case-Based Learning in Translational Biomedical Research Education: Providing Realistic and Adaptive Skills for Early-Career Scientists ↗Academic Medicine · 2018 · PMID 30256254not yet assessed
-
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma ↗American Journal of Medical Genetics Part A · 2018 · PMID 30450772not yet assessed
-
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls ↗PEDIATRICS · 2018 · PMID 30470723not yet assessed
-
Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia ↗Leukemia & lymphoma/Leukemia and lymphoma · 2018 · PMID 30407884not yet assessed
-
Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype ↗Clinical Immunology · 2018 · PMID 30282051not yet assessed
-
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease ↗Acta Neuropathologica Communications · 2018 · PMID 30355306not yet assessed
-
Protein modeling and clinical description of a novel in‐frame GLB 1 deletion causing GM 1 gangliosidosis type II ↗Molecular Genetics & Genomic Medicine · 2018 · PMID 30187681not yet assessed
-
Proposal for Modification of Cahan's Criteria Utilizing Molecular Genetic Analyses for Cases without Baseline Histopathology: A Unique Method Applicable to Primary Radiosurgery ↗Journal of Neurological Surgery Part B Skull Base · 2018 · PMID 30733895not yet assessed
-
Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models ↗Journal of Computational Biology · 2018 · PMID 29932737not yet assessed
-
Deep Learning for Better Variant Calling for Cancer Diagnosis and Treatment ↗2018 23rd Asia and South Pacific Design Automation Conference (ASP-DAC) · 2018not yet assessed
-
Proffered Papers and Posters Presented at the Seventh International Symposium on Hereditary Breast and Ovarian Cancer—BrcA: From the Personal to the Population ↗Current Oncology · 2018not yet assessed
-
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect? ↗Molecular Case Studies · 2018 · PMID 29802153not yet assessed
-
Performance benchmarking of GATK3.8 and GATK4 ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
-
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
-
Computational performance and accuracy of Sentieon DNASeq variant calling workflow ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
-
Correction: Arterial tortuosity syndrome: 40 new families and literature review ↗Genetics in Medicine · 2018 · PMID 30201961not yet assessed
-
Abstract P4-06-08: An interlaboratory study of complex mutation detection in genes associated with hereditary breast and ovarian cancer highlights both successes and current challenges ↗Cancer Research · 2018not yet assessed
-
PATH-26. NEURO-ONCOLOGY NEXT-GENERATION SEQUENCING 219-GENE PANEL FOR COMPREHENSIVE CLINICAL TESTING ↗Neuro-Oncology · 2018not yet assessed
-
TMOD-18. THE PATIENT DERIVED XENOGRAFT NATIONAL RESOURCE: A COMPREHENSIVE COLLECTION OF HIGH-GRADE GLIOMA MODELS FOR PRE-CLINICAL AND TRANSLATIONAL STUDIES ↗Neuro-Oncology · 2018not yet assessed
-
Data from: PCNT point mutations and familial intracranial aneurysms ↗Data Archiving and Networked Services (DANS) · 2018not yet assessed
-
PCNT and familial intracranial aneurysms-Supplemental data ↗Figshare · 2018not yet assessed
-
Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines ↗Journal of Molecular Diagnostics · 2017 · PMID 29154853not yet assessed
-
Maple syrup urine disease: mechanisms and management ↗The Application of Clinical Genetics · 2017 · PMID 28919799not yet assessed
-
Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies ↗Brain · 2017 · PMID 29050392not yet assessed
-
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans ↗Nature Genetics · 2017 · PMID 28288114not yet assessed
-
Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery ↗Oncotarget · 2017 · PMID 28423702not yet assessed
-
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features ↗JIMD Reports · 2017 · PMID 29030856not yet assessed
-
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients ↗Molecular Genetics & Genomic Medicine · 2017 · PMID 28546997not yet assessed
-
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing ↗PLoS ONE · 2017 · PMID 28182693not yet assessed
-
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding ↗Journal of Biological Chemistry · 2017 · PMID 28057753not yet assessed
-
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients ↗Molecular Genetics and Metabolism Reports · 2017 · PMID 28831385not yet assessed
-
Comparative analysis of de novo assemblers for variation discovery in personal genomes ↗Briefings in Bioinformatics · 2017 · PMID 28407084not yet assessed
-
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation ↗Case Reports in Genetics · 2017 · PMID 28487785not yet assessed
-
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype ↗American Journal of Medical Genetics Part A · 2017 · PMID 28322501not yet assessed
-
A novel de novo frameshift deletion in EHMT 1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation ↗Molecular Genetics & Genomic Medicine · 2017 · PMID 28361100not yet assessed
-
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR 1 ↗Molecular Genetics & Genomic Medicine · 2017 · PMID 28547000not yet assessed
-
Preemptive sequencing in the genomic medicine era ↗Expert Review of Precision Medicine and Drug Development · 2017not yet assessed
-
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals ↗European Journal of Human Genetics · 2017 · PMID 28145427not yet assessed
-
Molecular Modeling and Functional Analysis of Exome Sequencing–Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma ↗JCO Precision Oncology · 2017 · PMID 30761385not yet assessed
-
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome ↗Case Reports in Genetics · 2017 · PMID 28163941not yet assessed
-
Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1 ↗Hereditary Cancer in Clinical Practice · 2017 · PMID 28736585not yet assessed
-
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome ↗Molecular Case Studies · 2017 · PMID 28963436not yet assessed
-
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases ↗Molecular Case Studies · 2017 · PMID 28487885not yet assessed
-
An interlaboratory study of complex variant detection ↗bioRxiv (Cold Spring Harbor Laboratory) · 2017not yet assessed
-
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling ↗Molecular Case Studies · 2017 · PMID 28679693not yet assessed
-
The prevalence of lysosome-related diseases in a cohort of undiagnosed patients ↗Molecular Genetics and Metabolism · 2017not yet assessed
-
Preemptive Pharmacogenomic Testing for Precision Medicine ↗Journal of Molecular Diagnostics · 2016 · PMID 26947514not yet assessed
-
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic ↗Mayo Clinic Proceedings · 2016 · PMID 26944241not yet assessed
-
Impact of RNA degradation on fusion detection by RNA-seq ↗BMC Genomics · 2016 · PMID 27765019not yet assessed
-
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma ↗Human Mutation · 2016 · PMID 27397503not yet assessed
-
Pilot study of small bowel mucosal gene expression in patients with irritable bowel syndrome with diarrhea ↗American Journal of Physiology-Gastrointestinal and Liver Physiology · 2016 · PMID 27445342not yet assessed
-
Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants ↗Behavior Genetics · 2016 · PMID 27704300not yet assessed
-
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics ↗BMC Medical Genetics · 2016 · PMID 27919237not yet assessed
-
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing ↗Prion · 2016 · PMID 27929804not yet assessed
-
Clinical characteristics and platelet phenotype in a family withRUNX1mutated thrombocytopenia ↗Leukemia & lymphoma/Leukemia and lymphoma · 2016 · PMID 27931139not yet assessed
-
Early‐onset limb‐girdle muscular dystrophy‐2L in a female athlete ↗Muscle & Nerve · 2016 · PMID 27862037not yet assessed
-
“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results ↗F1000Research · 2016not yet assessed
-
“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results ↗F1000Research · 2016 · PMID 27408685not yet assessed
-
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic ↗Clinical Case Reports · 2016 · PMID 27648269not yet assessed
-
“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results ↗F1000Research · 2016not yet assessed
-
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C) ↗Case Reports in Genetics · 2016 · PMID 27195159not yet assessed
-
Proceedings of the 15th Annual UT-KBRIN Bioinformatics Summit 2016 ↗BMC Bioinformatics · 2016 · PMID 28166713not yet assessed
-
Sa1362 Identification of Novel Fusions in Gallbladder Cancer by Next Generation Sequencing RNA Analysis - Potential for Targeted Therapy ↗Gastroenterology · 2016not yet assessed
-
Safety First, Even During an Emergency Response: Achieving A Successful Expedited Emergency Response Without Sacrificing Safety Considerations At The Bowery Bay Wastewater Treatment Plant ↗Proceedings of the Water Environment Federation · 2016not yet assessed
-
Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing ↗Journal of Molecular Diagnostics · 2015 · PMID 25960255not yet assessed
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Endoscopic Ultrasound Fine-Needle Aspiration Cytology Mutation Profiling Using Targeted Next-Generation Sequencing ↗American Journal of Clinical Pathology · 2015 · PMID 25972331not yet assessed
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“Big Data” in Laboratory Medicine ↗Clinical Chemistry · 2015 · PMID 26487761not yet assessed
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Somatic STK11 and Concomitant STK11/KRAS Mutational Frequency in Stage IV Lung Adenocarcinoma Adrenal Metastases ↗Journal of Thoracic Oncology · 2015 · PMID 25695224not yet assessed
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A Critical Review of Repurposing Apomorphine for Smoking Cessation ↗Assay and Drug Development Technologies · 2015 · PMID 26690764not yet assessed
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Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes ↗Mayo Clinic Proceedings · 2015 · PMID 26434960not yet assessed
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Frequency of mitogen-activated protein kinase and phosphoinositide 3-kinase signaling pathway pathogenic alterations in EUS-FNA sampled malignant lymph nodes in rectal cancer with theranostic potential ↗Gastrointestinal Endoscopy · 2015 · PMID 25887718not yet assessed
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549 Tyrosinemia Without Succinylacetone: Modeling a Novel Mutation in FAH in Family With Early Onset Cirrhosis and Hepatocellular Carcinoma ↗Gastroenterology · 2015not yet assessed
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Sa1943 Feasibility Study Evaluating Whole Exome Sequencing of Endoscopic Ultrasound Fine Needle Aspiration (EUS FNA) Cytology Specimens ↗Gastroenterology · 2015not yet assessed
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BIOINFORMATICS ORIGINAL PAPER doi:10.1093/bioinformatics/btm1022015not yet assessed
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Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma ↗PLoS Genetics · 2014 · PMID 24550739not yet assessed
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Preemptive Genotyping for Personalized Medicine: Design of the Right Drug, Right Dose, Right Time—Using Genomic Data to Individualize Treatment Protocol ↗Mayo Clinic Proceedings · 2014 · PMID 24388019not yet assessed
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Bioinformatics for Clinical Next Generation Sequencing ↗Clinical Chemistry · 2014 · PMID 25451870not yet assessed
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Implementing individualized medicine into the medical practice ↗American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2014 · PMID 24616301not yet assessed
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Larval Zebrafish Model for FDA-Approved Drug Repositioning for Tobacco Dependence Treatment ↗PLoS ONE · 2014 · PMID 24658307not yet assessed
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RNA sequencing shows transcriptomic changes in rectosigmoid mucosa in patients with irritable bowel syndrome-diarrhea: a pilot case-control study ↗American Journal of Physiology-Gastrointestinal and Liver Physiology · 2014 · PMID 24763552not yet assessed
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Lung cancer adrenal gland metastasis: Optimal fine‐needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next‐generation sequencing ↗Cancer Cytopathology · 2014 · PMID 25045116not yet assessed
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Kinase Genotype Analysis of Gastric Gastrointestinal Stromal Tumor Cytology Samples Using Targeted Next-Generation Sequencing ↗Clinical Gastroenterology and Hepatology · 2014 · PMID 24997326not yet assessed
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Whole Exome Sequencing Implicates an INO80D Mutation in a Syndrome of Aortic Hypoplasia, Premature Atherosclerosis, and Arterial Stiffness ↗Circulation Cardiovascular Genetics · 2014 · PMID 25122053not yet assessed
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Mass Spectrometry Measurements of Prostate-Specific Antigen (PSA) Peptides Derived From Immune-Extracted PSA Provide a Potential Strategy for Harmonizing Immunoassay Differences ↗American Journal of Clinical Pathology · 2014 · PMID 24619754not yet assessed
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The Zebrafish GenomeWiki: a crowdsourcing approach to connect the long tail for zebrafish gene annotation ↗Database · 2014 · PMID 24578356not yet assessed
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Serum Concentrations of Prostate-Specific Antigen Measured Using Immune Extraction, Trypsin Digestion, and Tandem Mass Spectrometry Quantification of LSEPAELTDAVK Peptide ↗Archives of Pathology & Laboratory Medicine · 2014 · PMID 25268201not yet assessed
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64 RNA Sequencing Shows Transcriptomic Changes in Rectosigmoid Mucosa in Patients With Irritable Bowel Syndrome-Diarrhea ↗Gastroenterology · 2014not yet assessed
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Database tool The Zebrafish GenomeWiki: a crowdsourcing approach to connect the long tail for zebrafish gene annotation2014not yet assessed
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A Sequence-Based Variation Map of Zebrafish ↗Zebrafish · 2013 · PMID 23590399not yet assessed
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Zebrafish approaches enhance the translational research tackle box ↗Translational research · 2013 · PMID 24269745not yet assessed
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Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit ↗American Journal of Physiology-Gastrointestinal and Liver Physiology · 2013 · PMID 24200957not yet assessed
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Immunological and Mass Spectrometric Assays of SHBG: Consistent and Inconsistent Metabolic Associations in Healthy Men ↗The Journal of Clinical Endocrinology & Metabolism · 2013 · PMID 24203061not yet assessed
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Preserving personal autonomy in a genomic testing era ↗Genetics in Medicine · 2013 · PMID 23649380not yet assessed
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Experimental Designs for Array Comparative Genomic Hybridization Technology ↗Cytogenetic and Genome Research · 2013 · PMID 23548696not yet assessed
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not yet assessed
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212 Exome Sequencing in Families Identifies Rare Variants in Cell Junction Associated Proteins Representing a Potential Link Between Genetic Variation and Liver-Targeted Autoimmunity in Primary Biliary Cirrhosis ↗Gastroenterology · 2013not yet assessed
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not yet assessed
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Mo2036 Exome Sequencing in Patients With Diarrhea-Predominant Irritable Bowel Syndrome (IBS-D) and Relationship to Colonic Transit and Bile Acid (BA) Kinetics ↗Gastroenterology · 2013not yet assessed
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Front & Back Matter ↗Cytogenetic and Genome Research · 2013not yet assessed
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Adrenomedullin is Up-regulated in Patients With Pancreatic Cancer and Causes Insulin Resistance in β Cells and Mice ↗Gastroenterology · 2012 · PMID 22960655not yet assessed
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Global Methylation Profiling for Risk Prediction of Prostate Cancer ↗Clinical Cancer Research · 2012 · PMID 22589488not yet assessed
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SAAP-RRBS: streamlined analysis and annotation pipeline for reduced representation bisulfite sequencing ↗Bioinformatics · 2012 · PMID 22689387not yet assessed
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Candidate Serum Biomarkers for Prostate Adenocarcinoma Identified by mRNA Differences in Prostate Tissue and Verified with Protein Measurements in Tissue and Blood ↗Clinical Chemistry · 2012 · PMID 22247499not yet assessed
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Antiangiogenic Effects and Therapeutic Targets ofAzadirachta indicaLeaf Extract in Endothelial Cells ↗Evidence-based Complementary and Alternative Medicine · 2012 · PMID 22461839not yet assessed
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Zebrafish and Drug Development: A Behavioral Assay System for Probing Nicotine Function in Larval Zebrafish ↗Neuromethods · 2012not yet assessed
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Zebrafish: a model for the study of addiction genetics ↗Human Genetics · 2011 · PMID 22207143not yet assessed
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TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data ↗Bioinformatics · 2011 · PMID 22088845not yet assessed
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Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels ↗Mayo Clinic Proceedings · 2011 · PMID 21646302not yet assessed
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Zebrafish for the Study of the Biological Effects of Nicotine ↗Nicotine & Tobacco Research · 2011 · PMID 21385906not yet assessed
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Novel Molecular Targets of Azadirachta indica Associated with Inhibition of Tumor Growth in Prostate Cancer ↗The AAPS Journal · 2011 · PMID 21560017not yet assessed
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Expanding DNA diagnostic panel testing: is more better? ↗Expert Review of Molecular Diagnostics · 2011 · PMID 21902532not yet assessed
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Mayo Genome Consortia: Genotype-Phenotype Association Studies Applicable to Analysis of Circulating Bilirubin Levels ↗SciVee · 2011not yet assessed
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TREAT: A comprehensive open framework for targeted re-sequencing analysis ↗F1000Research · 2011not yet assessed
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Abstract 109: DNA methylation profiling associated with recurrence of prostate cancer ↗Cancer Research · 2011not yet assessed
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Oligonucleotide selection phase ↗Figshare · 2011not yet assessed
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Evaluation of Oligonucleotide Sequence Capture Arrays and Comparison of Next-Generation Sequencing Platforms for Use in Molecular Diagnostics ↗Clinical Chemistry · 2010 · PMID 20562348not yet assessed
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T1385 Adrenomedullin: A Biomarker of Pancreatic Cancer-Associated Diabetes? ↗Gastroenterology · 2010not yet assessed
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Abstract 4950: Correlation of methylation status with expression levels of the genes in prostate cancer ↗Cancer Research · 2010not yet assessed
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3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer ↗BMC Genomics · 2009 · PMID 19917133not yet assessed
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Meta-analysis of Oncogenic Protein Kinase Cι Signaling in Lung Adenocarcinoma ↗Clinical Cancer Research · 2009 · PMID 19223491not yet assessed
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Impact of sample acquisition and linear amplification on gene expression profiling of lung adenocarcinoma: laser capture micro-dissection cell-sampling versus bulk tissue-sampling ↗BMC Medical Genomics · 2009 · PMID 19272143not yet assessed
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Challenges in translating plasma proteomics from bench to bedside: update from the NHLBI Clinical Proteomics Programs ↗American Journal of Physiology-Lung Cellular and Molecular Physiology · 2008 · PMID 18456800not yet assessed
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Gene Panel Model Predictive of Outcome in Men at High-Risk of Systemic Progression and Death From Prostate Cancer After Radical Retropubic Prostatectomy ↗Journal of Clinical Oncology · 2008 · PMID 18711181not yet assessed
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Identification of Prognostic Biomarkers for Prostate Cancer ↗Clinical Cancer Research · 2008 · PMID 18347174not yet assessed
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Data Mining for Biomarker Development: A Review of Tissue Specificity Analysis ↗Clinics in Laboratory Medicine · 2008 · PMID 18194723not yet assessed
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The Zebrafish Secretome ↗Zebrafish · 2008 · PMID 18554177not yet assessed
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LC-MS/MS Quantification of Zn-α2 Glycoprotein: A Potential Serum Biomarker for Prostate Cancer ↗Clinical Chemistry · 2007 · PMID 17317883not yet assessed
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Computational classification of classically secreted proteins ↗Drug Discovery Today · 2007 · PMID 17331888not yet assessed
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Quantitating tissue specificity of human genes to facilitate biomarker discovery ↗Bioinformatics · 2007 · PMID 17384019not yet assessed
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Genome-Wide Reverse Genetics Framework to Identify Novel Functions of the Vertebrate Secretome ↗PLoS ONE · 2006 · PMID 17218990not yet assessed
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Bioinformatics Methods for Prioritizing Serum Biomarker Candidates ↗Clinical Chemistry · 2006 · PMID 18061989not yet assessed
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A Systematic Method for Selection of Promising Serum Protein Biomarkers to Improve Prostate Cancer (PCa1) Detection ↗Clinical Chemistry · 2006 · PMID 18061988not yet assessed
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Evaluating eukaryotic secreted protein prediction ↗BMC Bioinformatics · 2005 · PMID 16225690not yet assessed
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AMOD: a morpholino oligonucleotide selection tool ↗Nucleic Acids Research · 2005 · PMID 15980523not yet assessed
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Identifying secretomes in people, pufferfish and pigs ↗Nucleic Acids Research · 2004 · PMID 14990746not yet assessed
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Target selection for Danio rerio functional genomics ↗genesis · 2001 · PMID 11477688not yet assessed
Full bibliography from OpenAlex; reproducibility verdicts matched by PMID.
Author attribution follows OpenAlex disambiguation, which is imperfect — a researcher's papers can be split across profiles or mixed with a namesake.
Merged across profiles sharing this ORCID where present. See every “Klee E” paper on PubMed ↗