Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses

por Sahajpal, Nikhil Shri, Barseghyan, Hayk, Kolhe, Ravindra, Hastie, Alex, Chaubey, Alka
Publicado 2021

PB1833: STREAMLINED WORKFLOW FOR ANALYZING AND REPORTING OPTICAL GENOME MAPPING FOR HEMATOLOGICAL MALIGNANCIES IN BIONANO VIA SOFTWARE

por Hastie, Alex, Bertolotti, Alicia, Hauenstein, Jen, Pang, Andy Wing Chun, Miller, Niel, Chaubey, Alka
Publicado 2023

Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report

por Ortega, Veronica, Chaubey, Alka, Mendiola, Christina, Ehman, William, Vadlamudi, Kumari, Dupont, Barbara, Velagaleti, Gopalrao
Publicado 2016

COVID-19 diagnostic assays sensitivity: lessons for the upcoming wave or next pandemic

por Sahahjpal, Nikhil Shri, Mondal, Ashis K, Ananth, Sudha, Jones, Kimya, Chaubey, Alka, Kolhe, Ravindra
Publicado 2021

Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinem...

por Barseghyan, Hayk, Pang, Andy Wing Chun, Clifford, Benjamin, Serrano, Moises A., Chaubey, Alka, Hastie, Alex R.
Publicado 2023

Role of clinical laboratories in response to the COVID-19 pandemic

por Sahajpal, Nikhil Shri, Njau, Allan, Mondal, Ashis K, Ananth, Sudha, Chaubey, Alka, Rojiani, Amyn, Kolhe, Ravindra
Publicado 2020

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

por Liu, Ying F., Sowell, Sarah M., Luo, Yue, Chaubey, Alka, Cameron, Richard S., Kim, Hyung-Goo, Srivastava, Anand K.
Publicado 2015

Next-Generation Sequencing (NGS) in COVID-19: A Tool for SARS-CoV-2 Diagnosis, Monitoring New Strains and Phylodynamic Modeling in Molecular Epidemiology

por John, Goldin, Sahajpal, Nikhil Shri, Mondal, Ashis K., Ananth, Sudha, Williams, Colin, Chaubey, Alka, Rojiani, Amyn M., Kolhe, Ravindra
Publicado 2021

COVID-19 screening in a healthcare or community setting: complexity of saliva as a specimen for PCR-based testing

por Sahajpal, Nikhil Shri, Mondal, Ashis K, Njau, Allan, Ananth, Sudha, Ghamande, Salil, Hegde, Madhuri, Chaubey, Alka, M Rojiani, Amyn, Kolhe, Ravindra
Publicado 2020

Making a Difference: Adaptation of the Clinical Laboratory in Response to the Rapidly Evolving COVID-19 Pandemic

por Sahajpal, Nikhil S., Mondal, Ashis K., Ananth, Sudha, Njau, Allan, Fulzele, Sadanand, Ahaluwalia, Pankaj, Chaubey, Alka, Hegde, Madhuri, Rojiani, Amyn M., Kolhe, Ravindra
Publicado 2021

Importance of genetic testing in global health during the evaluation of familial microcephaly

por Molinero, Isaac, Broman‐Fulks, Jordan, Lyons, Michael J., Matheus, Maria Gisele, Chaubey, Alka, DuPont, Barbara R., Friez, Michael J., Skinner, Steve A., Holden, Kenton R.
Publicado 2016

Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?

por Ortega, Veronica, Louie, Raymond J., Jones, Melanie A., Chaubey, Alka, DuPont, Barbara R., Britt, Allison, Ray, Joseph, McLean, Scott D., Littlejohn, Rebecca O., Velagaleti, Gopalrao
Publicado 2021

Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology

por Gormus, Uzay, Chaubey, Alka, Shenoy, Suresh, Wong, Yong Wee, Chan, Lee Yin, Choo, Bao Ping, Oraha, Liza, Gousseva, Anna, Persson, Fredrik, Prensky, Lawrence, Chin, Ephrem, Hegde, Madhuri
Publicado 2021

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping

por Guruju, Naga M., Jump, Vanessa, Lemmers, Richard, Van Der Maarel, Silvere, Liu, Ruby, Nallamilli, Babi R., Shenoy, Suresh, Chaubey, Alka, Koppikar, Pratik, Rose, Rajiv, Khadilkar, Satish, Hegde, Madhuri
Publicado 2023

Proposal of RT-PCR–Based Mass Population Screening for Severe Acute Respiratory Syndrome Coronavirus 2 (Coronavirus Disease 2019)

por Sahajpal, Nikhil S., Mondal, Ashis K., Njau, Allan, Ananth, Sudha, Jones, Kimya, Ahluwalia, Pankaj K., Ahluwalia, Meenakshi, Jilani, Yasmeen, Chaubey, Alka, Hegde, Madhuri, Kota, Vamsi, Rojiani, Amyn, Kolhe, Ravindra
Publicado 2020

Guideline-Adherent Clinical Validation of a Comprehensive 170-Gene DNA/RNA Panel for Determination of Small Variants, Copy Number Variations, Splice Variants, and Fusions on a Next...

por Boyle, Theresa A., Mondal, Ashis K., Saeed-Vafa, Daryoush, Ananth, Sudha, Ahluwalia, Pankaj, Kothapalli, Ravi, Chaubey, Alka, Roberts, Evans, Qin, Dahui, Magliocco, Anthony M., Rojiani, Amyn M., Kolhe, Ravindra
Publicado 2021

High-Throughput Next-Generation Sequencing Respiratory Viral Panel: A Diagnostic and Epidemiologic Tool for SARS-CoV-2 and Other Viruses

por Sahajpal, Nikhil S., Mondal, Ashis K., Njau, Allan, Petty, Zachary, Chen, Jiani, Ananth, Sudha, Ahluwalia, Pankaj, Williams, Colin, Ross, Ted M., Chaubey, Alka, DeSantis, Grace, Schroth, Gary P., Bahl, Justin, Kolhe, Ravindra
Publicado 2021

Clinical validation of a multiplex PCR-based detection assay using saliva or nasopharyngeal samples for SARS-Cov-2, influenza A and B

por Sahajpal, Nikhil S., Mondal, Ashis K., Ananth, Sudha, Njau, Allan, Jones, Kimya, Ahluwalia, Pankaj, Oza, Eesha, Ross, Ted M., Kota, Vamsi, Kothandaraman, Arvind, Fulzele, Sadanand, Hegde, Madhuri, Chaubey, Alka, Rojiani, Amyn M., Kolhe, Ravindra
Publicado 2022

Clinical Validation of a Sensitive Test for Saliva Collected in Healthcare and Community Settings with Pooling Utility for Severe Acute Respiratory Syndrome Coronavirus 2 Mass Surv...

por Sahajpal, Nikhil S., Mondal, Ashis K., Ananth, Sudha, Njau, Allan, Ahluwalia, Pankaj, Kota, Vamsi, Caspary, Kevin, Ross, Ted M., Farrell, Michael, Shannon, Michael P., Fulzele, Sadanand, Chaubey, Alka, Hegde, Madhuri, Rojiani, Amyn M., Kolhe, Ravindra
Publicado 2021

Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers

por Sahajpal, Nikhil Shri, Mondal, Ashis K., Singh, Harmanpreet, Vashisht, Ashutosh, Ananth, Sudha, Saul, Daniel, Hastie, Alex R., Hilton, Benjamin, DuPont, Barbara R., Savage, Natasha M., Kota, Vamsi, Chaubey, Alka, Cortes, Jorge E., Kolhe, Ravindra
Publicado 2023