Search Results - "Genetics in medicine"

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller, David T., Lee, Kristy, Chung, Wendy K., Gordon, Adam S., Herman, Gail E., Klein, Teri E., Stewart, Douglas R., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Gollob, Michael H., Harrison, Steven M., Hershberger, Ray E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Watson, Michael S., Martin, Christa Lese

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation by Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

“…By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1…”
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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) by Manickam, Kandamurugu, McClain, Monica R., Demmer, Laurie A., Biswas, Sawona, Kearney, Hutton M., Malinowski, Jennifer, Massingham, Lauren J., Miller, Danny, Yu, Timothy W., Hisama, Fuki M.

“…Purpose To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one…”
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BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors by Lee, Andrew, Mavaddat, Nasim, Wilcox, Amber N., Cunningham, Alex P., Carver, Tim, Hartley, Simon, Babb de Villiers, Chantal, Izquierdo, Angel, Simard, Jacques, Schmidt, Marjanka K., Walter, Fiona M., Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Tischkowitz, Marc, Pharoah, Paul, Easton, Douglas F., Antoniou, Antonis C.

“…Purpose Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Breast and Ovarian…”
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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders by Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.

“…Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to…”
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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database by Dominguez-Valentin, Mev, Sampson, Julian R., Seppälä, Toni T., ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H., Heinimann, Karl, Vaccaro, Carlos A., Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Denton, Oliver G., Frayling, Ian M., Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, Møller, Pål

“…Purpose Pathogenic variants affecting MLH1 , MSH2 , MSH6 , and PMS2 cause Lynch syndrome and result in different but imprecisely known cancer risks. This study…”
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics by Kalia, Sarah S., Adelman, Kathy, Bale, Sherri J., Chung, Wendy K., Eng, Christine, Evans, James P., Herman, Gail E., Hufnagel, Sophia B., Klein, Teri E., Korf, Bruce R., McKelvey, Kent D., Ormond, Kelly E., Richards, C. Sue, Vlangos, Christopher N., Watson, Michael, Martin, Christa L., Miller, David T.

“…Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide…”
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Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria by Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott

“…Purpose The 2015 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG–AMP) guidelines were a major step toward…”
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Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) by Gregg, Anthony R., Aarabi, Mahmoud, Klugman, Susan, Leach, Natalia T., Bashford, Michael T., Goldwaser, Tamar, Chen, Emily, Sparks, Teresa N., Reddi, Honey V., Rajkovic, Aleksandar, Dungan, Jeffrey S.

“…Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay–Sachs disease in the…”
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test by Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R

“…Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving…”
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Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature by Schwarze, Katharina, Buchanan, James, Taylor, Jenny C, Wordsworth, Sarah

“…Purpose We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome…”
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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework by Tavtigian, Sean V, Greenblatt, Marc S, Harrison, Steven M, Nussbaum, Robert L, Prabhu, Snehit A, Boucher, Kenneth M, Biesecker, Leslie G

“…Purpose We evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines for…”
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Clinical application of whole-exome sequencing across clinical indications by Retterer, Kyle, Juusola, Jane, Cho, Megan T., Vitazka, Patrik, Millan, Francisca, Gibellini, Federica, Vertino-Bell, Annette, Smaoui, Nizar, Neidich, Julie, Monaghan, Kristin G., McKnight, Dianalee, Bai, Renkui, Suchy, Sharon, Friedman, Bethany, Tahiliani, Jackie, Pineda-Alvarez, Daniel, Richard, Gabriele, Brandt, Tracy, Haverfield, Eden, Chung, Wendy K., Bale, Sherri

“…We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory. WES was performed for many different…”
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ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller, David T., Lee, Kristy, Abul-Husn, Noura S., Amendola, Laura M., Brothers, Kyle, Chung, Wendy K., Gollob, Michael H., Gordon, Adam S., Harrison, Steven M., Hershberger, Ray E., Klein, Teri E., Richards, Carolyn Sue, Stewart, Douglas R., Martin, Christa Lese

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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples by Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh

“…The accurate interpretation of variation in Mendelian disease genes has lagged behind data generation as sequencing has become increasingly accessible. Ongoing…”
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Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics by Gregg, Anthony R., Skotko, Brian G., Benkendorf, Judith L., Monaghan, Kristin G., Bajaj, Komal, Best, Robert G., Klugman, Susan, Watson, Michael S.

“…Disclaimer: This statement is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this…”
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller, David T., Lee, Kristy, Gordon, Adam S., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Chung, Wendy K., Gollob, Michael H., Harrison, Steven M., Herman, Gail E., Hershberger, Ray E., Klein, Teri E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Stewart, Douglas R., Watson, Michael S., Martin, Christa Lese

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The genetic landscape of Alzheimer disease: clinical implications and perspectives by Van Cauwenberghe, Caroline, Van Broeckhoven, Christine, Sleegers, Kristel

“…The search for the genetic factors contributing to Alzheimer disease (AD) has evolved tremendously throughout the years. It started from the discovery of fully…”
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Prediction of CYP2D6 phenotype from genotype across world populations by Gaedigk, Andrea, Sangkuhl, Katrin, Whirl-Carrillo, Michelle, Klein, Teri, Leeder, J. Steven

“…Owing to its highly polymorphic nature and major contribution to the metabolism and bioactivation of numerous clinically used drugs, CYP2D6 is one of the most…”
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Using high-resolution variant frequencies to empower clinical genome interpretation by Whiffin, Nicola, Minikel, Eric, Walsh, Roddy, O’Donnell-Luria, Anne H, Karczewski, Konrad, Ing, Alexander Y, Barton, Paul J R, Funke, Birgit, Cook, Stuart A, MacArthur, Daniel, Ware, James S

“…Purpose Whole-exome and whole-genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating…”
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