A5047012465- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Chronic Myeloid Leukemia Treatments
- Chromosomal and Genetic Variations
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Prenatal Screening and Diagnostics
- Biomedical Ethics and Regulation
- Acute Lymphoblastic Leukemia research
- Hearing, Cochlea, Tinnitus, Genetics
- Congenital heart defects research
- Genomics and Chromatin Dynamics
- Neuroblastoma Research and Treatments
- Biotin and Related Studies
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Biomedical and Engineering Education
- Cervical Cancer and HPV Research
- Lymphoma Diagnosis and Treatment
- Neurofibromatosis and Schwannoma Cases
- Immunodeficiency and Autoimmune Disorders
- Monoclonal and Polyclonal Antibodies Research
University of Kentucky
2016-2025
Albert B. Chandler Hospital
2022-2024
University of Kentucky HealthCare
2024
Central Baptist Hospital
2024
Kentucky Department for Public Health
2021
Michigan State University
2000-2016
Hebei University of Science and Technology
2015
Henry Ford Health System
2007-2009
Henry Ford Hospital
2006
BCR::ABL1-like B-lymphoblastic leukaemia (B-ALL) neoplasms lack the BCR::ABL1 translocation but have a gene expression profile like positive B-ALL. This includes alterations in cytokine receptors and signalling genes, such as CRLF2, ABL1, ABL2, JAK2, PDGFRB EPOR . Cases with CRLF2 rearrangements account for approximately 50% of cases Philadelphia-like acute lymphoblastic (Ph-like ALL), frequency specific genomic lesions varies ethnicity that IGH::CRLF2 translocations are more common...
Background Germline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration prophylactic surgery, thereby making accurate interpretation germline critical for physicians deciding on these procedures. The Clinical Genome Resource (ClinGen) Variant Curation Expert Panel (VCEP) developed specifications variant curation a goal to resolve uncertain significance (VUS) ClinVar conflicting...
Newborn screening for congenital hypothyroidism remains challenging decades after broad implementation worldwide. Testing protocols are not uniform in terms of targets (TSH and/or T4) and (parallel vs. sequential testing; one or two specimen collection times), specificity (with without a second specimen) is overall poor. The purpose this retrospective study to investigate the potential impact multivariate pattern recognition software (CLIR) improve post-analytical interpretation results....
Patients with cancer frequently undergo research-grade germline sequencing but clinically actionable results are not routinely disclosed. The objective of this study is to evaluate the feasibility reporting relevant secondary findings (SF) identified in research using institutional molecular tumor board (MTB) and treating oncology physician.
The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and rarely considered adult patients. As part manifestations this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. first manifestation syndrome might be seizures due profound hypocalcemia.A 40-year-old man without significant past medical history presented a...
We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All presented typical clinical features of the disorder. The first is homozygous for a missense mutation in BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36) that commonly seen western countries, second novel (p.Ala439Asp), and third reported instance contiguous deletion causing enzyme deficiency. In addition, this latter finding exemplifies importance considering within reconciling enzymatic activity...
Chromosome 4p deletions can lead to two distinct phenotypic outcomes: Wolf--Hirschhorn syndrome (a terminal deletion at 4p16.3) and less frequently reported proximal interstitial (4p11-p16). Proximal result in mild moderate intellectual disability, facial dysmorphisms, a tall thin body habitus. To date, only 35 cases of have been reported, these familial. The critical region for this has narrowed down 4p15.33-15.2, but the underlying causative genes remain unclear. In study, we report case...
Objective The purpose of this research was to identify the gene responsible for a novel form nonsyndromic, late-onset, bilateral, progressive, sensorineural hearing loss in Michigan family English descent. This report describes audiologic aspects search. Design Fifty-eight members served as subjects study. Family pedigree information gathered from interviews, records, birth and death registration records census data. Audiologic evaluation used describe (phenotype) classify affected or...
Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis leads to accumulation homocysteine that affects several organ systems leading abnormalities in the skeletal, cardiovascular, ophthalmic and central nervous systems. We report 14-month-old 7-year-old boy who presented with neurologic dysfunction were found have cerebral venous sinus thromboses on brain magnetic resonance imaging (MRI)/magnetic...
Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY 46, XX cell line is less clearly defined. A more complete description phenotype related to thus essential guide management pubertal development, fertility, gonadoblastoma risk in mosaic carriers. Findings from evaluation twin females with abnormal karyotype, 48,...
We report a distinctive case of sequential lymphomas in 72-year-old male, initially diagnosed with Epstein-Barr virus (EBV)-positive rectal classic Hodgkin lymphoma (cHL), followed by the development diffuse large B cell (DLBCL) lung. This rare progression underscores complexity associated EBV infection and their unpredictable clinical courses. The patient's journey began symptoms intractable diarrhea, low appetite, significant weight loss, leading to diagnosis stage 4B cHL, managed...
Small supernumerary marker chromosomes (sSMC) are structurally abnormal accessory that cannot be unambiguously identified through conventional cytogenetic analysis and require the use of molecular techniques for characterization. sSMC can form several structures, including ring chromosomes. While certain have been associated with specific conditions such as Emanuel, Pallister-Killian, Cat-Eye syndromes, many yet to thoroughly defined. Supernumerary chromosome 1 (SRC1) is an exceedingly rare...
Nuclear Protein in Testis (NUT)-rearranged tumors comprise predominantly NUT carcinoma but also include certain lymphomas, leukemias, skin appendage tumors, and sarcomas. Although histologically diverse, all are genetically identified by oncogenic rearrangement the NUTM1 gene. Many fusion partners occur, NSD3 is carcinoma's third most common partner. Herein, we present a case of 26-year-old man with an
Background: This retrospective cohort study investigates the prognostic significance of genetic mutations in Chronic Myelomonocytic Leukemia (CMML) and their association with treatment responses among patients treated at a single institution, juxtaposed statewide dataset from Kentucky. Methods: The includes 51 diagnosed CMML under World Health Organization criteria January 2005 to December 2023. It examines genomic profiles subsequent survival outcomes. analysis also categorizes into CMML-1...
Background: This retrospective cohort study investigates the prognostic significance of genetic mutations in Chronic Myelomonocytic Leukemia (CMML) and their association with treatment responses among patients treated at a single institution, juxtaposed statewide dataset from Kentucky. Methods: The includes 51 diagnosed CMML under World Health Organization criteria January 2005 to December 2023. It examines genomic profiles subsequent survival outcomes. analysis also categorizes into CMML-1...