selected publications
-
Pleural Effusions on MRI in Autosomal Dominant Polycystic Kidney Disease.
Journal of clinical medicine.
2023
Academic Article
GET IT
Times cited: 7 - A common intronic single nucleotide variant modifies PKD1 expression level. Clinical genetics. 2022 Academic Article GET IT
-
Rapid detection of SARS-CoV-2 variants of concern by single nucleotide polymorphism genotyping using TaqMan assays.
Diagnostic microbiology and infectious disease.
2022
Academic Article
GET IT
Times cited: 1 -
Pericardial Effusion on MRI in Autosomal Dominant Polycystic Kidney Disease.
Journal of clinical medicine.
2022
Academic Article
GET IT
Times cited: 3 -
Deployed Deep Learning Kidney Segmentation for Polycystic Kidney Disease MRI.
Radiology. Artificial intelligence.
2022
Academic Article
GET IT
Times cited: 6 -
System-wide transcriptome damage and tissue identity loss in COVID-19 patients.
Cell reports. Medicine.
2022
Academic Article
GET IT
Times cited: 13 -
Combining molecular testing and the Bethesda category III:VI ratio for thyroid fine-needle aspirates: A quality-assurance metric for evaluating diagnostic performance in a cytopathology laboratory.
Cancer cytopathology.
2021
Academic Article
GET IT
Times cited: 4 -
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.
Journal of the American Society of Nephrology : JASN.
2021
Academic Article
GET IT
Times cited: 7 -
Adenovirus viremia after in vivo T-cell depleted allo-transplant in adults: low lymphocyte counts are associated with uncontrolled viremia and fatal outcomes.
Leukemia & lymphoma.
2021
Academic Article
GET IT
Times cited: 1 -
Performance Evaluation of the MatMaCorp COVID-19 2SF Assay for the Detection of SARS-CoV-2 from Nasopharyngeal Swabs.
Microbiology spectrum.
2021
Academic Article
GET IT
Times cited: 1 -
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows: A Report of the Association for Molecular Pathology Training and Education Committee.
The Journal of molecular diagnostics : JMD.
2021
Review
GET IT
Times cited: 2 -
Next-Generation Sequencing of Cell-Free DNA Extracted From Pleural Effusion Supernatant: Applications and Challenges.
Frontiers in medicine.
2021
Academic Article
GET IT
Times cited: 2 -
Early introductions and transmission of SARS-CoV-2 variant B.1.1.7 in the United States.
Cell.
2021
Academic Article
GET IT
Times cited: 58 -
Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions.
Nature communications.
2021
Academic Article
GET IT
Times cited: 67 - Early introductions and community transmission of SARS-CoV-2 variant B.1.1.7 in the United States. medRxiv : the preprint server for health sciences. 2021 Article GET IT
- Systemic Tissue and Cellular Disruption from SARS-CoV-2 Infection revealed in COVID-19 Autopsies and Spatial Omics Tissue Maps. bioRxiv : the preprint server for biology. 2021 Article GET IT
-
Rapid Implementation of Severe Acute Respiratory Syndrome Coronavirus 2 Emergency Use Authorization RT-PCR Testing and Experience at an Academic Medical Institution.
The Journal of molecular diagnostics : JMD.
2020
Academic Article
GET IT
Times cited: 2 -
Performance Characteristics of a Targeted Sequencing Platform for Simultaneous Detection of Single Nucleotide Variants, Insertions/Deletions, Copy Number Alterations, and Gene Fusions in Cancer Genome.
Archives of pathology & laboratory medicine.
2020
Academic Article
GET IT
Times cited: 4 -
Prevalence of Inferior Vena Cava Compression in ADPKD.
Kidney international reports.
2020
Academic Article
GET IT
Times cited: 1 -
Hemorrhagic Cysts and Other MR Biomarkers for Predicting Renal Dysfunction Progression in Autosomal Dominant Polycystic Kidney Disease.
Journal of magnetic resonance imaging : JMRI.
2020
Academic Article
GET IT
Times cited: 5 -
Clinical Performance of SARS-CoV-2 Molecular Tests.
Journal of clinical microbiology.
2020
Academic Article
GET IT
Times cited: 66 -
Comparison of Two High-Throughput Reverse Transcription-PCR Systems for the Detection of Severe Acute Respiratory Syndrome Coronavirus 2.
Journal of clinical microbiology.
2020
Academic Article
GET IT
Times cited: 43 -
Safety, tolerability, and clinical outcomes of hydroxychloroquine for hospitalized patients with coronavirus 2019 disease.
PloS one.
2020
Academic Article
GET IT
Times cited: 16 - Shotgun Transcriptome and Isothermal Profiling of SARS-CoV-2 Infection Reveals Unique Host Responses, Viral Diversification, and Drug Interactions. bioRxiv : the preprint server for biology. 2020 Article GET IT
-
Preanalytic variables in quality and quantity of nucleic acids extracted from FNA specimens of thyroid gland nodules collected in CytoLyt: Cellularity and storage time.
Cancer cytopathology.
2020
Academic Article
GET IT
Times cited: 7 -
Spleen phenotype in autosomal dominant polycystic kidney disease.
Clinical radiology.
2019
Academic Article
GET IT
Times cited: 6 -
Integrative Molecular Analysis of Patients With Advanced and Metastatic Cancer.
JCO precision oncology.
2019
Academic Article
GET IT
Times cited: 36 -
Prophylactic rituximab prevents EBV PTLD in haplo-cord transplant recipients at high risk.
Leukemia & lymphoma.
2019
Academic Article
GET IT
Times cited: 23 -
Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease.
Journal of magnetic resonance imaging : JMRI.
2018
Academic Article
GET IT
Times cited: 5 -
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASN.
2018
Academic Article
GET IT
Times cited: 39 -
Evaluation of a human adenovirus viral load assay using the Altona RealStar® PCR test.
Diagnostic microbiology and infectious disease.
2017
Academic Article
GET IT
Times cited: 5 -
The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations.
Journal of the American Medical Informatics Association : JAMIA.
2017
Academic Article
GET IT
Times cited: 72 -
Accuracy of next-generation sequencing for the identification of clinically relevant variants in cytology smears in lung adenocarcinoma.
Cancer cytopathology.
2017
Academic Article
GET IT
Times cited: 32 -
Immunohistochemistry Improves the Detection of Adenovirus in Gastrointestinal Biopsy Specimens From Hematopoietic Stem Cell Transplant Recipients.
American journal of clinical pathology.
2016
Academic Article
GET IT
Times cited: 13 -
Haplo-cord transplant: HLA-matching determines graft dominance.
Leukemia & lymphoma.
2016
Letter
GET IT
Times cited: 7 -
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.
NPJ genomic medicine.
2016
Academic Article
GET IT
Times cited: 58 -
Cord blood chimerism and relapse after haplo-cord transplantation.
Leukemia & lymphoma.
2016
Academic Article
GET IT
Times cited: 16 -
Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
Radiology.
2016
Academic Article
GET IT
Times cited: 28 -
Development of a BK virus real-time quantitative assay using the bioMérieux analyte-specific reagents in plasma specimens.
American journal of clinical pathology.
2015
Academic Article
GET IT
Times cited: 1 -
Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease.
2015
GET IT
Times cited: 7 -
Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.
JAMA oncology.
2015
Academic Article
GET IT
Times cited: 216 -
How we handled the dextran shortage: an alternative washing or dilution solution for cord blood infusions.
Transfusion.
2015
Academic Article
GET IT
Times cited: 17 -
Development and validation of a whole genome amplification long-range PCR sequencing method for ADPKD genotyping of low-level DNA samples.
Gene.
2014
Academic Article
GET IT
Times cited: 6 -
Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism.
2014
GET IT
Times cited: 27 -
Urine microRNA as potential biomarkers of autosomal dominant polycystic kidney disease progression: description of miRNA profiles at baseline.
PloS one.
2014
Academic Article
GET IT
Times cited: 80 -
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
The Journal of molecular diagnostics : JMD.
2013
Academic Article
GET IT
Times cited: 51 -
IL28B polymorphism, pretreatment CXCL10, and HCV RNA levels predict treatment response in racially diverse HIV/HCV coinfected and HCV monoinfected patients.
Journal of acquired immune deficiency syndromes (1999).
2013
Academic Article
GET IT
Times cited: 7 -
Avoiding pitfalls in bone marrow engraftment analysis: a case study highlighting the weakness of using buccal cells for determining a patient's constitutional genotype after hematopoietic stem cell transplantation.
Cytotherapy.
2012
Academic Article
GET IT
Times cited: 9 -
Pharmacogenomics and the future of toxicology testing.
Clinics in laboratory medicine.
2012
Review
GET IT
Times cited: 6 -
A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.
The Journal of molecular diagnostics : JMD.
2012
Academic Article
GET IT
Times cited: 38 -
Evaluation of a BK virus viral load assay using the QIAGEN Artus BK Virus RG PCR test.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.
2012
Academic Article
GET IT
Times cited: 16 -
Comparison of Real-time PCR to ELISA for the detection of human cytomegalovirus infection in renal transplant patients in the Sudan.
Virology journal.
2011
Academic Article
GET IT
Times cited: 13 -
Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs.
Biochimica et biophysica acta.
2011
Review
GET IT
Times cited: 56 -
Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.
Clinical cancer research : an official journal of the American Association for Cancer Research.
2011
Academic Article
GET IT
Times cited: 38 -
Performance of the COBAS® AmpliPrep/COBAS TaqMan® automated system for hepatitis C virus (HCV) quantification in a multi-center comparison.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.
2010
Academic Article
GET IT
Times cited: 13 -
Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinoma.
The American journal of surgical pathology.
2010
Academic Article
GET IT
Times cited: 108 -
Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.
2010
GET IT
Times cited: 8 -
Kidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series.
2009
GET IT
Times cited: 11 -
Clinical, pathologic, and molecular features of early-onset colorectal carcinoma.
The American journal of surgical pathology.
2009
Academic Article
GET IT
Times cited: 140 -
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Human mutation.
2009
Academic Article
GET IT
Times cited: 56 -
Joint effects of inflammation and androgen metabolism on prostate cancer severity.
International journal of cancer.
2008
Academic Article
GET IT
Times cited: 18 -
Common 8q24 sequence variations are associated with Asian Indian advanced prostate cancer risk.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
2008
Academic Article
GET IT
Times cited: 29 -
Evaluation of prostate cancer characteristics in four populations worldwide.
The Canadian journal of urology.
2008
Academic Article
GET IT
Times cited: 57 -
Analysis of the RNASEL/HPC1, and macrophage scavenger receptor 1 in Asian-Indian advanced prostate cancer.
Urology.
2008
Academic Article
GET IT
Times cited: 12 -
Genetic susceptibility to prostate cancer in men of African descent: implications for global disparities in incidence and outcomes.
The Canadian journal of urology.
2008
Review
GET IT
Times cited: 34 -
A comprehensive study of nondysplastic and dysplastic serrated polyps of the vermiform appendix.
The American journal of surgical pathology.
2007
Academic Article
GET IT
Times cited: 46 -
Incidence and risk factors for weight loss during dual HIV/hepatitis C virus therapy.
Journal of acquired immune deficiency syndromes (1999).
2007
Academic Article
GET IT
Times cited: 15 -
An alternative spliced RNASEL variant in peripheral blood leukocytes.
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research.
2006
Academic Article
GET IT
Times cited: 6 -
RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
2006
Academic Article
GET IT
Times cited: 21 -
Differences in the characteristics of families with BRCA1 and BRCA2 mutations in Israel.
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP).
2005
Academic Article
GET IT
Times cited: 18 -
Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
Prenatal diagnosis.
2005
Academic Article
GET IT
Times cited: 6 -
SMN1 dosage analysis in spinal muscular atrophy from India.
BMC medical genetics.
2005
Academic Article
GET IT
Times cited: 4 -
Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
2005
Academic Article
GET IT
Times cited: 77 -
Multiplex RT-PCR for the detection of leukemia-associated translocations: validation and application to routine molecular diagnostic practice.
The Journal of molecular diagnostics : JMD.
2003
Academic Article
GET IT
Times cited: 41 -
Combined cytogenetic and array-based comparative genomic hybridization analyses of Wilms tumors: amplification and overexpression of the multidrug resistance associated protein 1 gene (MRP1) in a metachronous tumor.
Cancer genetics and cytogenetics.
2003
Academic Article
GET IT
Times cited: 12 -
A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews.
American journal of human genetics.
2002
Academic Article
GET IT
Times cited: 101 -
Genetic risk assessment in carrier testing for spinal muscular atrophy.
American journal of medical genetics.
2002
Academic Article
GET IT
Times cited: 138 -
Spinal muscular atrophy genetic testing experience at an academic medical center.
The Journal of molecular diagnostics : JMD.
2002
Academic Article
GET IT
Times cited: 38 -
Heteroduplex formation in SMN gene dosage analysis.
The Journal of molecular diagnostics : JMD.
2001
Academic Article
GET IT
Times cited: 15 -
Population colorectal cancer screening with fecal occult blood test.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
2001
Academic Article
GET IT
Times cited: 37 -
Detection of clonal T-cell receptor gamma gene rearrangements using fluorescent-based PCR and automated high-resolution capillary electrophoresis.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology.
2001
Academic Article
GET IT
Times cited: 45 -
Evidence for early hematopoietic progenitor cell involvement in acute promyelocytic leukemia.
American journal of clinical pathology.
1999
Academic Article
GET IT
Times cited: 38 -
A novel, non-nested reverse-transcriptase polymerase chain reaction (RT-PCR) test for the detection of the t(15;17) translocation: a comparative study of RT-PCR cytogenetics, and fluorescence In situ hybridization.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology.
1999
Academic Article
GET IT
Times cited: 16 -
Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy.
American journal of medical genetics.
1999
Academic Article
GET IT
Times cited: 59 -
Novel bcl-2 breakpoints in patients with follicular lymphoma.
1998
GET IT
Times cited: 11 -
Pooled analysis of p53 mutations in hematological malignancies.
Human mutation.
1998
Review
GET IT
Times cited: 15 -
Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene.
1997
GET IT
Times cited: 48 - Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. 1996 Academic Article GET IT
-
The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2).
Genomics.
1994
Academic Article
GET IT
Times cited: 63 -
Sterol carrier protein 2: a role in steroid hormone synthesis?.
The Journal of steroid biochemistry and molecular biology.
1993
Review
GET IT
Times cited: 64 -
Oncogene-transformed granulosa cells as a model system for the study of steroidogenic processes.
The Journal of steroid biochemistry and molecular biology.
1992
Review
GET IT
Times cited: 14 -
The human "peripheral-type" benzodiazepine receptor: regional mapping of the gene and characterization of the receptor expressed from cDNA.
DNA and cell biology.
1992
Academic Article
GET IT
Times cited: 34 -
Regulated expression of sterol carrier protein 2 in the ovary: a key role for cyclic AMP.
Biochemistry.
1991
Academic Article
GET IT
Times cited: 49 -
Cloning and expression of a cDNA encoding human sterol carrier protein 2.
Proceedings of the National Academy of Sciences of the United States of America.
1991
Academic Article
GET IT
Times cited: 112 -
A cDNA encoding a rat mitochondrial cytochrome P450 catalyzing both the 26-hydroxylation of cholesterol and 25-hydroxylation of vitamin D3: gonadotropic regulation of the cognate mRNA in ovaries.
DNA and cell biology.
1990
Academic Article
GET IT
Times cited: 109 -
Generation of regulatory oxysterols: 26-hydroxylation of cholesterol by ovarian mitochondria.
Endocrinology.
1990
Academic Article
GET IT
Times cited: 37 -
Lack of effect by prostaglandin F2 alpha and verapamil on calcium uptake by isolated corpora lutea from pseudopregnant rats.
Biochemical pharmacology.
1989
Academic Article
GET IT
Times cited: 2 -
Mechanism of the luteolytic action of prostaglandin F-2 alpha in the rat.
Journal of reproduction and fertility. Supplement.
1989
Academic Article
GET IT
Times cited: 29 -
Calmodulin inhibitors and 8-(N,N-diethylamino)-octyl-3,4,5-trimethoxybenzoate do not prevent the inhibitory effect of prostaglandin F2 alpha on cyclic AMP production in isolated rat corpora lutea.
The Journal of endocrinology.
1987
Academic Article
GET IT
Times cited: 14 -
Inhibition by vanadate of cyclic AMP production in rat corpora lutea incubated in vitro.
Life sciences.
1986
Academic Article
GET IT
Times cited: 8