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Clinical validation of a multiplex PCR-based detection assay using saliva or nasopharyngeal samples for SARS-Cov-2, influenza A and B.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-07152-0
By:
- 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
Publication type:
Article
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-Generation Sequencing Platform in the CLIA Setting.
Published in:
Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.503830
By:
- 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
Publication type:
Article
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1968, doi. 10.1002/ajmg.a.40362
By:
- Stevenson, Roger E.;
- Vincent, Victoria;
- Spellicy, Catherine J.;
- Friez, Michael J.;
- Chaubey, Alka
Publication type:
Article
Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.
Published in:
PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123106
By:
- Liu, Ying F.;
- Sowell, Sarah M.;
- Luo, Yue;
- Chaubey, Alka;
- Cameron, Richard S.;
- Kim, Hyung-Goo;
- Srivastava, Anand K.
Publication type:
Article
Stem Cells: An Emerging Future in Dentistry.
Published in:
JIDA: Journal of Indian Dental Association, 2016, v. 10, n. 4, p. 10
By:
- Momin, Nasera;
- Chaubey, Alka;
- Shah, Parth K.;
- Momin, Abrar
Publication type:
Article
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
Published in:
2023
By:
- Sahajpal, Nikhil Shri;
- Hastie, Alex R.;
- Schieck, Maximilian;
- Mondal, Ashis K.;
- Felde, Marc;
- van der Made, Caspar I.;
- Chou, Janet S.;
- Randolph, Adrienne G.;
- Illig, Thomas;
- Zody, Michael C.;
- Brownstein, Catherine A.;
- Beggs, Alan H.;
- Hoischen, Alexander;
- Chaubey, Alka;
- Kolhe, Ravindra
Publication type:
Case Study
Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers.
Published in:
Cancers, 2023, v. 15, n. 12, p. 3214, doi. 10.3390/cancers15123214
By:
- 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
Publication type:
Article
Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?
Published in:
Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00558-x
By:
- 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
Publication type:
Article
Importance of genetic testing in global health during the evaluation of familial microcephaly.
Published in:
Clinical Case Reports, 2016, v. 4, n. 10, p. 968, doi. 10.1002/ccr3.669
By:
- 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.
Publication type:
Article
High-Throughput Next-Generation Sequencing Respiratory Viral Panel: A Diagnostic and Epidemiologic Tool for SARS-CoV-2 and Other Viruses.
Published in:
Viruses (1999-4915), 2021, v. 13, n. 10, p. 2063, doi. 10.3390/v13102063
By:
- 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
Publication type:
Article
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.
Published in:
Clinical Genetics, 2024, v. 105, n. 2, p. 173, doi. 10.1111/cge.14445
By:
- Sahajpal, Nikhil;
- Ziats, Catherine;
- Chaubey, Alka;
- DuPont, Barbara R.;
- Abidi, Fatima;
- Schwartz, Charles E.;
- Stevenson, Roger E.
Publication type:
Article
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 418, doi. 10.1093/hmg/ddt434
By:
- Boccuto, Luigi;
- Aoki, Kazuhiro;
- Flanagan-Steet, Heather;
- Chen, Chin-Fu;
- Fan, Xiang;
- Bartel, Frank;
- Petukh, Marharyta;
- Pittman, Ayla;
- Saul, Robert;
- Chaubey, Alka;
- Alexov, Emil;
- Tiemeyer, Michael;
- Steet, Richard;
- Schwartz, Charles E.
Publication type:
Article
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 20, p. 4497, doi. 10.1093/hmg/dds292
By:
- Takano, Kyoko;
- Liu, Dan;
- Tarpey, Patrick;
- Gallant, Esther;
- Lam, Alex;
- Witham, Shawn;
- Alexov, Emil;
- Chaubey, Alka;
- Stevenson, Roger E.;
- Schwartz, Charles E.;
- Board, Philip G.;
- Dulhunty, Angela F.
Publication type:
Article
Analytic Validation of Optical Genome Mapping in Hematological Malignancies.
Published in:
Biomedicines, 2023, v. 11, n. 12, p. 3263, doi. 10.3390/biomedicines11123263
By:
- Pang, Andy W. C.;
- Kosco, Karena;
- Sahajpal, Nikhil S.;
- Sridhar, Arthi;
- Hauenstein, Jen;
- Clifford, Benjamin;
- Estabrook, Joey;
- Chitsazan, Alex D.;
- Sahoo, Trilochan;
- Iqbal, Anwar;
- Kolhe, Ravindra;
- Raca, Gordana;
- Hastie, Alex R.;
- Chaubey, Alka
Publication type:
Article
SalivaSTAT: Direct-PCR and Pooling of Saliva Samples Collected in Healthcare and Community Setting for SARS-CoV-2 Mass Surveillance.
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 5, p. 904, doi. 10.3390/diagnostics11050904
By:
- Sahajpal, Nikhil S.;
- Mondal, Ashis K.;
- Ananth, Sudha;
- Njau, Allan;
- Ahluwalia, Pankaj;
- Newnam, Gary;
- Lozoya-Colinas, Adriana;
- Hud, Nicholas V.;
- Kota, Vamsi;
- Ross, Ted M.;
- Reid, Michelle D.;
- Fulzele, Sadanand;
- Chaubey, Alka;
- Hegde, Madhuri;
- Rojiani, Amyn M.;
- Kolhe, Ravindra;
- Russo, Alessandro
Publication type:
Article
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Published in:
Human Mutation, 2021, v. 42, n. 5, p. 626, doi. 10.1002/humu.24191
By:
- Nallamilli, Babi R. R.;
- Chaubey, Alka;
- Valencia, C. A.;
- Stansberry, Leah;
- Behlmann, Andrea M.;
- Ma, Zeqiang;
- Mathur, Abhinav;
- Shenoy, Suresh;
- Ganapathy, Vidya;
- Jagannathan, Lakshmanan;
- Ramachander, Vinish;
- Ferlini, Alessandra;
- Bean, Lora;
- Hegde, Madhuri
Publication type:
Article
Correction: Optical Genome Mapping for Oncology Applications.
Published in:
Current Protocols, 2023, v. 3, n. 11, p. 1, doi. 10.1002/cpz1.946
By:
- Sahajpal, Nikhil Shri;
- Mondal, Ashis K.;
- Hastie, Alex;
- Chaubey, Alka;
- Kolhe, Ravindra
Publication type:
Article
Optical Genome Mapping for Oncology Applications.
Published in:
Current Protocols, 2023, v. 3, n. 10, p. 1, doi. 10.1002/cpz1.910
By:
- Sahajpal, Nikhil Shri;
- Mondal, Ashis K.;
- Hastie, Alex;
- Chaubey, Alka;
- Kolhe, Ravindra
Publication type:
Article
Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement.
Published in:
Genes, 2023, v. 14, n. 10, p. 1868, doi. 10.3390/genes14101868
By:
- Barseghyan, Hayk;
- Pang, Andy Wing Chun;
- Clifford, Benjamin;
- Serrano, Moises A.;
- Chaubey, Alka;
- Hastie, Alex R.
Publication type:
Article
Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation.
Published in:
Genes, 2023, v. 14, n. 9, p. 1683, doi. 10.3390/genes14091683
By:
- Sahajpal, Nikhil Shri;
- Mondal, Ashis K.;
- Vashisht, Ashutosh;
- Singh, Harmanpreet;
- Pang, Andy Wing Chun;
- Saul, Daniel;
- Nivin, Omar;
- Hilton, Benjamin;
- DuPont, Barbara R.;
- Kota, Vamsi;
- Savage, Natasha M.;
- Hastie, Alex R.;
- Chaubey, Alka;
- Kolhe, Ravindra
Publication type:
Article
Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception.
Published in:
Genes, 2022, v. 13, n. 4, p. 643, doi. 10.3390/genes13040643
By:
- Sahajpal, Nikhil Shri;
- Mondal, Ashis K.;
- Ananth, Sudha;
- Pundkar, Chetan;
- Jones, Kimya;
- Williams, Colin;
- Fee, Timothy;
- Weissman, Amanda;
- Tripodi, Giuseppe;
- Oza, Eesha;
- Gavrilova-Jordan, Larisa;
- Omar, Nivin;
- Hastie, Alex R.;
- DuPont, Barbara R.;
- Layman, Lawrence;
- Chaubey, Alka;
- Kolhe, Ravindra
Publication type:
Article
Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.
Published in:
Genes, 2021, v. 12, n. 3, p. 398, doi. 10.3390/genes12030398
By:
- Sahajpal, Nikhil Shri;
- Barseghyan, Hayk;
- Kolhe, Ravindra;
- Hastie, Alex;
- Chaubey, Alka;
- Choy, Richard
Publication type:
Article
Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.
Published in:
Cytogenetic & Genome Research, 2020, v. 160, n. 1, p. 2, doi. 10.1159/000504908
By:
- Henderson, Brittany B.;
- Chaubey, alka;
- Roth, Lawrence M.;
- Robboy, Stanley J.;
- Tarasidis, Gregory;
- Jones, Julie R.;
- Sundermann, John M.;
- Chou, Jeff;
- Craddock, ann L.;
- Stevenson, Leslie;
- Friez, Michael J.;
- Kincaid, Edward H.;
- Stevenson, Roger E.
Publication type:
Article

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