Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.
Published in Genetics in medicine (01.05.2019)
Published in Genetics in medicine (01.05.2019)
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Journal Article
Frequency of CYP2D6 Alleles Including Structural Variants in the United States
Del Tredici, Andria L, Malhotra, Alka, Dedek, Matthew, Espin, Frank, Roach, Dan, Zhu, Guang-Dan, Voland, Joseph, Moreno, Tanya A
Published in Frontiers in pharmacology (05.04.2018)
Published in Frontiers in pharmacology (05.04.2018)
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Journal Article
How does a Social and Behavioral Change Communication Intervention Predict Menstrual Health and Hygiene Management: A Cross-Sectional Study
Ramaiya, Astha, Malhotra, Alka, Cronin, Carmen, Stevens, Sarah, Kostizak, Kelli, Sharma, Animesh, Nagar, Shailesh, Sood, Suruchi
Published in BMC public health (02.08.2019)
Published in BMC public health (02.08.2019)
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Journal Article
Community-Based Approaches to Increase COVID-19 Vaccine Uptake and Demand: Lessons Learned from Four UNICEF-Supported Interventions
Hopkins, Kathryn L, Underwood, Talya, Iddrisu, Iddi, Woldemeskel, Hanna, Bon, Helena Ballester, Brouwers, Symen, De Almeida, Sofia, Fol, Natalie, Malhotra, Alka, Prasad, Shalini, Bharadwaj, Sowmyaa, Bhatnagar, Aarunima, Knobler, Stacey, Lihemo, Gloria
Published in Vaccines (Basel) (30.06.2023)
Published in Vaccines (Basel) (30.06.2023)
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Journal Article
Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation
Hsueh, Wen-Chi, Nair, Anup K, Kobes, Sayuko, Chen, Peng, Göring, Harald H H, Pollin, Toni I, Malhotra, Alka, Knowler, William C, Baier, Leslie J, Hanson, Robert L
Published in Circulation. Cardiovascular genetics (01.12.2017)
Published in Circulation. Cardiovascular genetics (01.12.2017)
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Journal Article
P368: Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association
Chávez-Pasco, Giulliana, Bazalar-Montoya, Jeny, Suarez, Cecilia Bonilla, Bluske, Krista, Strom, Samuel, Malhotra, Alka, Milewski, Becky, Thorpe, Erin, Taft, Ryan, Manassero-Morales, Gioconda
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia
Splawski, Igor, Timothy, Katherine W., Tateyama, Michihiro, Clancy, Colleen E., Malhotra, Alka, Beggs, Alan H., Cappuccio, Francesco P., Sagnella, Giuseppe A., Kass, Robert S., Keating, Mark T.
Published in Science (American Association for the Advancement of Science) (23.08.2002)
Published in Science (American Association for the Advancement of Science) (23.08.2002)
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Journal Article
P507: Implementation of automated pharmacogenomics reporting for a clinically validated whole genome sequencing test
Malhotra, Alka, Hejja, Rueben, Avecilla, James, Walker, Andrew, Medrano, Phillip, Mullen, Felipe, Balusu, Anusha, Vankayala, Pratyusha, Bennett, Maren, Chawla, Aditi, Ajay, Subramanian, Strom, Samuel, Kesari, Akanchha, Perry, Denise, Taft, Ryan
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases
Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin, Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J.
Published in Cell genomics (08.02.2023)
Published in Cell genomics (08.02.2023)
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Journal Article
Assessing accuracy of genotype imputation in American Indians
Malhotra, Alka, Kobes, Sayuko, Bogardus, Clifton, Knowler, William C, Baier, Leslie J, Hanson, Robert L
Published in PloS one (11.07.2014)
Published in PloS one (11.07.2014)
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Journal Article
Evidence for a role of LPGAT1 in influencing BMI and percent body fat in Native Americans
Traurig, Michael T., Orczewska, Julieanna I., Ortiz, Daniel J., Bian, Li, Marinelarena, Alejandra M., Kobes, Sayuko, Malhotra, Alka, Hanson, Robert L., Mason, Clint C., Knowler, William C., Bogardus, Clifton, Baier, Leslie J.
Published in Obesity (Silver Spring, Md.) (01.01.2013)
Published in Obesity (Silver Spring, Md.) (01.01.2013)
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Journal Article
O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients
Taft, Ryan, Thorpe, Erin, Belmont, John, Williams, Taylor, Shaw, Chad, Button, Jason, Ortega, Julia, Robinson, Keisha, Jones, Marilyn, Masser-Frye, Diane, Basel, Donald, Brown, Chester, Vaux, Keith, Lumaka, Aime, Sirchia, Fabio, Roque, Milagros Dueñas, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Urraca, Nora, Salguero, Alejandra, Wiafe, Samuel, Foster-Bonds, Romina, Royer, Erin, Gallas, Michelle, Magoulas, Pilar, Vanderver, Adeline, Shinawi, Marwan, Taylor, Alan, Fishler, Kristen, Henry, Duncan, Salyakina, Daria, Gibson, Kate, Lah, Melissa, Malhotra, Alka, Avecilla, James, Warren, Andrew, Perry, Denise, Arseneault, Max
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Meta-Analysis of Genome-Wide Linkage Studies of Quantitative Lipid Traits in Families Ascertained for Type 2 Diabetes
Malhotra, Alka, Elbein, Steven C, Ng, Maggie C Y, Duggirala, Ravindranath, Arya, Rector, Imperatore, Giuseppina, Adeyemo, Adebowale, Pollin, Toni I, Hsueh, Wen-Chi, Chan, Juliana C N, Rotimi, Charles, Hanson, Robert L, Hasstedt, Sandra J, Wolford, Johanna K
Published in Diabetes (New York, N.Y.) (01.03.2007)
Published in Diabetes (New York, N.Y.) (01.03.2007)
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Journal Article
The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees
Malhotra, Alka, Cromer, Kevin, Leppert, Mark F, Hasstedt, Sandra J
Published in Journal of human genetics (01.02.2005)
Published in Journal of human genetics (01.02.2005)
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Journal Article
Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data
Chen, Xiao, Shen, Fei, Gonzaludo, Nina, Malhotra, Alka, Rogert, Cande, Taft, Ryan J., Bentley, David R., Eberle, Michael A.
Published in The pharmacogenomics journal (01.04.2021)
Published in The pharmacogenomics journal (01.04.2021)
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Journal Article
Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data
Chen, Xiao, Shen, Fei, Gonzaludo, Nina, Malhotra, Alka, Rogert, Cande, Taft, Ryan J., Bentley, David R., Eberle, Michael A.
Published in The pharmacogenomics journal (01.12.2022)
Published in The pharmacogenomics journal (01.12.2022)
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Journal Article
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Dohrn, Maike F, Rebelo, Adriana P, Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J, Züchner, Stephan
Published in Neurology (15.03.2022)
Published in Neurology (15.03.2022)
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Journal Article
Encoded Exposure and Social Norms in Entertainment-Education
Riley, Amy Henderson, Sood, Suruchi, Mazumdar, Paramita Dasgupta, Choudary, Narendra Nath, Malhotra, Alka, Sahba, Naysan
Published in Journal of health communication (01.01.2017)
Published in Journal of health communication (01.01.2017)
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Journal Article
Multiple molecular diagnoses in individual patients identified through whole genome sequencing
Malhotra, Alka, Thorpe, Erin, Ortega, Julia, Masser-Frye, Diane, Jones, Marilyn, Royer, Erin, Ohden, Lisa, Davis-Keppen, Laura, Belmont, John, Perry, Denise, Taft, Ryan
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article