Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.
Published in American journal of human genetics (01.06.2017)
Published in American journal of human genetics (01.06.2017)
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The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis
Hannah, William B, Seifert, Bryce A, Truty, Rebecca, Zariwala, Maimoona A, Ameel, Kristen, Zhao, Yi, Nykamp, Keith, Gaston, Benjamin
Published in The lancet respiratory medicine (01.05.2022)
Published in The lancet respiratory medicine (01.05.2022)
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Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Raca, Gordana, Astbury, Caroline, Behlmann, Andrea, De Castro, Mauricio J., Hickey, Scott E., Karaca, Ender, Lowther, Chelsea, Riggs, Erin Rooney, Seifert, Bryce A., Thorland, Erik C., Deignan, Joshua L.
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Ingles, Jodie, Goldstein, Jennifer, Thaxton, Courtney, Caleshu, Colleen, Corty, Edward W, Crowley, Stephanie B, Dougherty, Kristen, Harrison, Steven M, McGlaughon, Jennifer, Milko, Laura V, Morales, Ana, Seifert, Bryce A, Strande, Natasha, Thomson, Kate, Peter van Tintelen, J, Wallace, Kathleen, Walsh, Roddy, Wells, Quinn, Whiffin, Nicola, Witkowski, Leora, Semsarian, Christopher, Ware, James S, Hershberger, Ray E, Funke, Birgit
Published in Circulation. Genomic and precision medicine (01.02.2019)
Published in Circulation. Genomic and precision medicine (01.02.2019)
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L., Andrade, Kelvin C., Attardi, Laura D., Crowley, Stephanie, Evans, D. Gareth, Feng, Bing‐Jian, Foreman, Ann K. M., Frone, Megan N., Huether, Robert, James, Paul A., McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A., Slavin, Thomas P., Witkowski, Leora, Zhang, Liying, Plon, Sharon E., Spurdle, Amanda B., Savage, Sharon A.
Published in Human mutation (01.03.2021)
Published in Human mutation (01.03.2021)
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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project
Roman, Tamara S., Crowley, Stephanie B., Roche, Myra I., Foreman, Ann Katherine M., O’Daniel, Julianne M., Seifert, Bryce A., Lee, Kristy, Brandt, Alicia, Gustafson, Chelsea, DeCristo, Daniela M., Strande, Natasha T., Ramkissoon, Lori, Milko, Laura V., Owen, Phillips, Roy, Sayanty, Xiong, Mai, Paquin, Ryan S., Butterfield, Rita M., Lewis, Megan A., Souris, Katherine J., Bailey, Donald B., Rini, Christine, Booker, Jessica K., Powell, Bradford C., Weck, Karen E., Powell, Cynthia M., Berg, Jonathan S.
Published in American journal of human genetics (01.10.2020)
Published in American journal of human genetics (01.10.2020)
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Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Shao, Lina, Akkari, Yassmine, Cooley, Linda D., Miller, David T., Seifert, Bryce A., Wolff, Daynna J., Mikhail, Fady M.
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings
Seifert, Bryce A, O'Daniel, Julianne M, Amin, Krunal, Marchuk, Daniel S, Patel, Nirali M, Parker, Joel S, Hoyle, Alan P, Mose, Lisle E, Marron, Andrew, Hayward, Michele C, Bizon, Christopher, Wilhelmsen, Kirk C, Evans, James P, Earp, 3rd, H Shelton, Sharpless, Norman E, Hayes, D Neil, Berg, Jonathan S
Published in Clinical cancer research (15.08.2016)
Published in Clinical cancer research (15.08.2016)
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Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels
Lee, Kristy, Seifert, Bryce A., Shimelis, Hermela, Ghosh, Rajarshi, Crowley, Stephanie B., Carter, Natalie J., Doonanco, Kurston, Foreman, A. Katherine, Ritter, Deborah I., Jimenez, Sharisse, Trapp, Mackenzie, Offit, Kenneth, Plon, Sharon E., Couch, Fergus J.
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Seifert, Bryce A., Reddi, Honey V., Kang, Benjamin E., Bean, Lora J.H., Shealy, Amy, Rose, Nancy C.
Published in Genetics in medicine (01.08.2024)
Published in Genetics in medicine (01.08.2024)
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Reconstitution of norovirus-specific T cell responses following hematopoietic stem cell transplantation in patients with inborn errors of immunity and chronic norovirus infection
Durkee-Shock, Jessica, Cohen, Ariella, Maghzian, Naseem, Pezzella, Gloria, Jensen-Wachspress, Mariah, Hostal, Anna, Barton, Karenna, Gangler, Krista, Dávila Saldaña, Blachy J, Chaimongkol, Natthawan, Bollard, Catherine M, Sosnovtsev, Stanislav V, Cohen, Jeffrey, Nagata, Bianca M, Alves, Derron A, Ghosh, Rajarshi, Seifert, Bryce A, Freeman, Alexandra, Gonzalez, Corina, Notarangelo, Luigi D, Green, Kim Y, Keller, Michael D
Published in The Journal of infectious diseases (14.08.2024)
Published in The Journal of infectious diseases (14.08.2024)
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Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma
Mohsin, Noreen, Hunt, Devin, Yan, Jia, Jabbour, Austin J, Nghiem, Paul, Choi, Jaehyuk, Zhang, Yue, Freeman, Alexandra F, Bergerson, Jenna R E, Dell'Orso, Stefania, Lachance, Kristina, Kulikauskas, Rima, Collado, Loren, Cao, Wenjia, Lack, Justin, Similuk, Morgan, Seifert, Bryce A, Ghosh, Rajarshi, Walkiewicz, Magdalena A, Brownell, Isaac
Published in JAMA dermatology (Chicago, Ill.) (01.02.2024)
Published in JAMA dermatology (Chicago, Ill.) (01.02.2024)
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The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
Oikonomou, Vasileios, Smith, Grace, Constantine, Gregory M., Schmitt, Monica M., Ferré, Elise M.N., Alejo, Julie C., Riley, Deanna, Kumar, Dhaneshwar, Dos Santos Dias, Lucas, Pechacek, Joseph, Hadjiyannis, Yannis, Webb, Taura, Seifert, Bryce A., Ghosh, Rajarshi, Walkiewicz, Magdalena, Martin, Daniel, Besnard, Marine, Snarr, Brendan D., Deljookorani, Shiva, Lee, Chyi-chia R., DiMaggio, Tom, Barber, Princess, Rosen, Lindsey B., Cheng, Aristine, Rastegar, Andre, de Jesus, Adriana A., Stoddard, Jennifer, Kuehn, Hye Sun, Break, Timothy J., Kong, Heidi H., Castelo-Soccio, Leslie, Colton, Ben, Warner, Blake M., Kleiner, David E., Quezado, Martha M., Davis, Jeremy L., Fennelly, Kevin P., Olivier, Kenneth N., Rosenzweig, Sergio D., Suffredini, Anthony F., Anderson, Mark S., Swidergall, Marc, Guillonneau, Carole, Notarangelo, Luigi D., Goldbach-Mansky, Raphaela, Neth, Olaf, Monserrat-Garcia, Maria Teresa, Valverde-Fernandez, Justo, Lucena, Jose Manuel, Gomez-Gila, Ana Lucia, Garcia Rojas, Angela, Seppänen, Mikko R. J., Lohi, Jouko, Hero, Matti, Laakso, Saila, Klemetti, Paula, Lundberg, Vanja, Ekwall, Olov, Olbrich, Peter, Winer, Karen K., Afzali, Behdad, Moutsopoulos, Niki M., Holland, Steven M., Heller, Theo, Pittaluga, Stefania, Lionakis, Michail S.
Published in The New England journal of medicine (30.05.2024)
Published in The New England journal of medicine (30.05.2024)
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Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease
Haskell, Gloria T, Jensen, Brian C, Samsa, Leigh Ann, Marchuk, Daniel, Huang, Wei, Skrzynia, Cecile, Tilley, Christian, Seifert, Bryce A, Rivera-Muñoz, Edgar A, Koller, Beverly, Wilhelmsen, Kirk C, Liu, Jiandong, Alhosaini, Hassan, Weck, Karen E, Evans, James P, Berg, Jonathan S
Published in Circulation. Cardiovascular genetics (01.06.2017)
Published in Circulation. Cardiovascular genetics (01.06.2017)
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Addendum: Technical standards and guidelines for spinal muscular atrophy testing
Deignan, Joshua L., Astbury, Caroline, Behlmann, Andrea, Guha, Saurav, Monaghan, Kristin G., Reddi, Honey V., Seifert, Bryce A., Tayeh, Marwan, Wakeling, Erin
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
Ochoa, Sebastian, Hsu, Amy P, Oler, Andrew J, Kumar, Dhaneshwar, Chauss, Daniel, van Hamburg, Jan Piet, van Laar, Gustaaf G, Oikonomou, Vasileios, Ganesan, Sundar, Ferré, Elise M N, Schmitt, Monica M, DiMaggio, Tom, Barber, Princess, Constantine, Gregory M, Rosen, Lindsey B, Auwaerter, Paul G, Gandhi, Bhumika, Miller, Jennifer L, Eisenberg, Rachel, Rubinstein, Arye, Schussler, Edith, Balliu, Erjola, Shashi, Vandana, Neth, Olaf, Olbrich, Peter, Le, Kim My, Mamia, Nanni, Laakso, Saila, Nevalainen, Pasi I, Grönholm, Juha, Seppänen, Mikko R J, Boon, Louis, Uzel, Gulbu, Franco, Luis M, Heller, Theo, Winer, Karen K, Ghosh, Rajarshi, Seifert, Bryce A, Walkiewicz, Magdalena, Notarangelo, Luigi D, Zhou, Qing, Askentijevich, Ivona, Gahl, William, Dalgard, Cliffton L, Perera, Lalith, Afzali, Behdad, Tas, Sander W, Holland, Steven M, Lionakis, Michail S
Published in Science translational medicine (18.09.2024)
Published in Science translational medicine (18.09.2024)
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Variant classification for Pompe disease; ACMG/AMP specifications from the ClinGen lysosomal diseases variant curation expert panel
Goldstein, Jennifer L., McGlaughon, Jennifer, Kanavy, Dona, Goomber, Shelly, Pan, Yinghong, Deml, Brett, Donti, Taraka, Kearns, Liz, Seifert, Bryce A., Schachter, Miriam, Son, Rachel G., Thaxton, Courtney, Udani, Rupa, Bali, Deeksha, Baudet, Heather, Caggana, Michele, Hung, Christina, Kyriakopoulou, Lianna, Rosenblum, Lynne, Steiner, Robert, Pinto e Vairo, Filippo, Wang, Yang, Watson, Michael, Fernandez, Raquel, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine
Published in Molecular genetics and metabolism (01.09.2023)
Published in Molecular genetics and metabolism (01.09.2023)
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Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
Beers, Breanna J, Similuk, Morgan N, Ghosh, Rajarshi, Seifert, Bryce A, Jamal, Leila, Kamen, Michael, Setzer, Michael R, Jodarski, Colleen, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Cao, Wenjia, Bi, Weimin, Veltri, Daniel, Karlins, Eric, Zhang, Lingwen, Li, Zhiwen, Oler, Andrew J, Jevtich, Kathleen, Yu, Yunting, Hullfish, Haley, Bielekova, Bibiana, Frischmeyer-Guerrerio, Pamela, Dang Do, An, Huryn, Laryssa A, Olivier, Kenneth N, Su, Helen C, Lyons, Jonathan J, Zerbe, Christa S, Rao, V Koneti, Keller, Michael D, Freeman, Alexandra F, Holland, Steven M, Franco, Luis M, Walkiewicz, Magdalena A, Yan, Jia
Published in Frontiers in immunology (05.05.2023)
Published in Frontiers in immunology (05.05.2023)
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