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
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Journal Article
Best practices for the interpretation and reporting of clinical whole genome sequencing
Austin-Tse, Christina A, Jobanputra, Vaidehi, Perry, Denise L, Bick, David, Taft, Ryan J, Venner, Eric, Gibbs, Richard A, Young, Ted, Barnett, Sarah, Belmont, John W, Boczek, Nicole, Chowdhury, Shimul, Ellsworth, Katarzyna A, Guha, Saurav, Kulkarni, Shashikant, Marcou, Cherisse, Meng, Linyan, Murdock, David R, Rehman, Atteeq U, Spiteri, Elizabeth, Thomas-Wilson, Amanda, Kearney, Hutton M, Rehm, Heidi L
Published in Npj genomic medicine (08.04.2022)
Published in Npj genomic medicine (08.04.2022)
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Journal Article
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
Scocchia, Alicia, Wigby, Kristen M, Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I, Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S, Rajan, Vani, Perry, Denise L, Belmont, John W, Bentley, David R, Jones, Marilyn C, Taft, Ryan J
Published in Npj genomic medicine (14.02.2019)
Published in Npj genomic medicine (14.02.2019)
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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
Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairment
Christensen, Kurt D., Karlawish, Jason, Roberts, J. Scott, Uhlmann, Wendy R., Harkins, Kristin, Wood, Elisabeth M., Obisesan, Thomas O., Le, Lan Q., Cupples, L. Adrienne, Zoltick, Emilie S., Johnson, Megan S., Bradbury, Margaret K., Waterston, Leo B., Chen, Clara A., Feldman, Sara, Perry, Denise L., Green, Robert C.
Published in Alzheimer's & dementia : translational research & clinical interventions (2020)
Published in Alzheimer's & dementia : translational research & clinical interventions (2020)
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Journal Article
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
Krantz, Ian D, Medne, Livija, Weatherly, Jamila M, Wild, K Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P, Abdul-Rahman, Omar, Euteneuer, Joshua C, Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J, Vargas-Shiraishi, Ofelia M, Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A, Baldridge, Dustin, Cole, F Sessions, Wegner, Daniel J, Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J, Pivnick, Eniko K, Ward, Jewell C, Talati, Ajay, Brown, Chester W, Belmont, John W, Ortega, Julia L, Robinson, Keisha D, Brocklehurst, W Tyler, Perry, Denise L, Ajay, Subramanian S, Hagelstrom, R Tanner, Bennett, Maren, Rajan, Vani, Taft, Ryan J
Published in JAMA pediatrics (01.12.2021)
Published in JAMA pediatrics (01.12.2021)
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A framework for the evaluation and reporting of incidental findings in clinical genomic testing
Brown, Carolyn M, Amendola, Laura M, Chandrasekhar, Anjana, Hagelstrom, R Tanner, Halter, Gillian, Kesari, Akanchha, Thorpe, Erin, Perry, Denise L, Taft, Ryan J, Coffey, Alison J
Published in European journal of human genetics : EJHG (01.06.2024)
Published in European journal of human genetics : EJHG (01.06.2024)
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Journal Article
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships
Taylor, Julie P., Malhotra, Alka, Burns, Nicole J., Clause, Amanda R., Brown, Carolyn M., Burns, Brendan T., Chandrasekhar, Anjana, Schlachetzki, Zinayida, Bennett, Maren, Thorpe, Erin, Taft, Ryan J., Perry, Denise L., Coffey, Alison J.
Published in Human mutation (01.06.2022)
Published in Human mutation (01.06.2022)
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Journal Article
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes
Chandrasekhar, Anjana, Mroczkowski, Henry J., Urraca, Nora, Gross, Andrew, Bluske, Krista, Thorpe, Erin, Hagelstrom, R. Tanner, Schonberg, Steven A., Perry, Denise L., Taft, Ryan J., Kesari, Akanchha
Published in American journal of medical genetics. Part A (01.03.2024)
Published in American journal of medical genetics. Part A (01.03.2024)
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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
Sajan, Samin A, Brown, Carolyn M, Davis-Keppen, Laura, Burns, Kaitlyn, Royer, Erin, Coleman, Jessica A Cooley, Hilton, Benjamin A, DuPont, Barbara R, Perry, Denise L, Taft, Ryan J, Kesari, Akanchha
Published in American journal of medical genetics. Part A (01.12.2023)
Published in American journal of medical genetics. Part A (01.12.2023)
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Journal Article
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C., Campo, Miguel del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M., Urraca, Nora, Bosfield, Kerri, Brown, Chester W., Lydigsen, Holly, Mroczkowski, Henry J., Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D., Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S., Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E., Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S., Perry, Denise L., Belmont, John, Taft, Ryan J.
Published in American journal of human genetics (11.07.2024)
Published in American journal of human genetics (11.07.2024)
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Journal Article
Phenotypic and Imaging Spectrum Associated With WDR45
Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, Vanderver, Adeline
Published in Pediatric neurology (01.08.2020)
Published in Pediatric neurology (01.08.2020)
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Journal Article
“Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing
Tomlinson, Ashley N., Skinner, Debra, Perry, Denise L., Scollon, Sarah R., Roche, Myra I., Bernhardt, Barbara A.
Published in Journal of genetic counseling (01.02.2016)
Published in Journal of genetic counseling (01.02.2016)
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Journal Article
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
Malhotra, Alka, Ziegler, Alban, Shu, Li, Perrier, Renee, Amlie-Wolf, Louise, Wohler, Elizabeth, Lygia de Macena Sobreira, Nara, Colin, Estelle, Vanderver, Adeline, Sherbini, Omar, Stouffs, Katrien, Scalais, Emmanuel, Serretti, Alessandro, Barth, Magalie, Navet, Benjamin, Rollier, Paul, Xi, Hui, Wang, Hua, Zhang, Hainan, Perry, Denise L, Ferrarini, Alessandra, Colombo, Roberto, Pepler, Alexander, Schneider, Adele, Tomiwa, Kiyotaka, Okamoto, Nobuhiko, Matsumoto, Naomichi, Miyake, Noriko, Taft, Ryan, Mao, Xiao, Bonneau, Dominique
Published in Journal of medical genetics (01.10.2021)
Published in Journal of medical genetics (01.10.2021)
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Journal Article
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing
Makay, Prince, Mubungu, Gerrye, Mupuala, Aimée, Bluske, Krista, Brown, Carolyn, Schmidt, Sarah A., Ngole, Mamy, Fuanani, Patrick, Perry, Denise L., Lukusa, Prosper, Devriendt, Koenraad, Taft, Ryan J., Lumaka, Aimé
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Inactivation of AMMECR1 is associated with growth, bone, and heart alterations
Moysés‐Oliveira, Mariana, Giannuzzi, Giuliana, Fish, Richard J., Rosenfeld, Jill A., Petit, Florence, Soares, Maria de Fatima, Kulikowski, Leslie Domenici, Di‐Battista, Adriana, Zamariolli, Malú, Xia, Fan, Liehr, Thomas, Kosyakova, Nadezda, Carvalheira, Gianna, Parker, Michael, Seaby, Eleanor G., Ennis, Sarah, Gilbert, Rodney D., Hagelstrom, R. Tanner, Cremona, Maria L., Li, Wenhui L., Malhotra, Alka, Chandrasekhar, Anjana, Perry, Denise L., Taft, Ryan J., McCarrier, Julie, Basel, Donald G., Andrieux, Joris, Stumpp, Taiza, Antunes, Fernanda, Pereira, Gustavo José, Neerman‐Arbez, Marguerite, Meloni, Vera Ayres, Drummond‐Borg, Margaret, Melaragno, Maria Isabel, Reymond, Alexandre
Published in Human mutation (01.02.2018)
Published in Human mutation (01.02.2018)
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Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome
Muirhead, Kayla J, Clause, Amanda R, Schlachetzki, Zinayida, Dubbs, Holly, Perry, Denise L, Hagelstrom, R Tanner, Taft, Ryan J, Vanderver, Adeline
Published in Cold Spring Harbor molecular case studies (01.12.2021)
Published in Cold Spring Harbor molecular case studies (01.12.2021)
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Journal Article
Participants and Study Decliners’ Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing
Robinson, Jill Oliver, Carroll, Thomas M., Feuerman, Lindsay Z., Perry, Denise L., Hoffman-Andrews, Lily, Walsh, Rebecca C., Christensen, Kurt D., Green, Robert C., McGuire, Amy L.
Published in Journal of empirical research on human research ethics (01.02.2016)
Published in Journal of empirical research on human research ethics (01.02.2016)
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