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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions 使用基因组测序扩展新生儿筛查早期可行条件 Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Wynn, Julia; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K. 分享 收藏
ARTICLE Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research Consortium Scollon, Sarah; Robinson, Jill O.; Jo, Eunji; Suckiel, Sabrina A.; Amendola, Laura M.; Foreman, Ann Katherine M.; Jarvik, Gail P.; Rini, Christine; Wang, Tao; Slavotinek, Anne 分享 收藏
Consideration of disease penetrance in the selection of secondary fi ndings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG) Gordon, Adam S.; Lee, Kristy; Abul-Husn, Noura S.; Amendola, Laura M.; Brothers, Kyle; Chung, Wendy K.; Gollob, Michael H.; Harrison, Steven M.; Hershberger, Ray E.; Richards, C. Sue; Stewart, Douglas R.; Martin, Christa Lese; Miller, David T. 分享 收藏
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. 分享 收藏
LETTER TO THE EDITOR Response to Stern 致编辑的信对斯特恩的回应 Hanson, Helen; Astiazaran-Symonds, Esteban; Amendola, Laura M.; Balmana, Judith; Foulkes, William D.; James, Paul; Klugman, Susan; Ngeow, Joanne; Schmutzler, Rita; Voian, Nicoleta; Wick, Myra J.; Pal, Tuya; Tischkowitz, Marc; Stewart, Douglas R. 分享 收藏
Evaluation of mailed results versus telephone disclosure of normal cancer genetic test results in a low-risk underserved population Gilmore, Marian J.; Leo, Michael C.; Amendola, Laura M.; Goddard, Katrina A. B.; Hunter, Jessica Ezzell; Joseph, Galen; Kauffman, Tia L.; Rolf, Bradley; Shuster, Elizabeth; Zepp, Jamilyn M.; Wilfond, Benjamin S.; Biesecker, Barbara B. 分享 收藏
Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population Hunter, Jessica Ezzell; Riddle, Leslie; Joseph, Galen; Amendola, Laura M.; Gilmore, Marian J.; Zepp, Jamilyn M.; Shuster, Elizabeth; Bulkley, Joanna E.; Muessig, Kristin R.; Anderson, Katherine P.; Goddard, Katrina A. B.; Wilfond, Benjamin S.; Leo, Michael C. 分享 收藏
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Hanson, Helen; Astiazaran-Symonds, Esteban; Amendola, Laura M.; Balmana, Judith; Foulkes, William D.; James, Paul; Klugman, Susan; Ngeow, Joanne; Schmutzler, Rita; Voian, Nicoleta; Wick, Myra J.; Pal, Tuya; Tischkowitz, Marc; Stewart, Douglas R. 分享 收藏
ACMG SF v3.2 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) 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, C. Sue; Stewart, Douglas R.; Martin, C. L. 分享 收藏
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.; Bentley, David R.; Taft, Ryan J.; Perry, Denise L.; Coffey, Alison J. 分享 收藏
An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial Joseph, Galen; Leo, Michael C.; Riddle, Leslie; Guerra, Claudia; Amendola, Laura M.; Gilmore, Marian J.; Rolf, Bradley A.; Dorschner, Michael O.; Zepp, Jamilyn; Biesecker, Barbara B.; Caruncho, Mikaella; Hunter, Jessica Ezzell; Keast, Erin; Lewis, Hannah S.; Duenas, Devan; Kauffman, Tia; Bulkley, Joanna E.; Anderson, Katherine P.; Jarvik, Gail P.; Goddard, Katrina A. B.; Wilfond, Benjamin S. 分享 收藏
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial Liles, Elizabeth G.; Leo, Michael C.; Freed, Amanda S.; Porter, Kathryn M.; Zepp, Jamilyn M.; Kauffman, Tia L.; Keast, Erin; McMullen, Carmit K.; Gruss, Inga; Biesecker, Barbara B.; Muessig, Kristin R.; Eubanks, Donna J.; Amendola, Laura M.; Dorschner, Michael O.; Rolf, Bradley A.; Jarvik, Gail P.; Goddard, Katrina A. B.; Wilfond, Benjamin S. 分享 收藏
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) Miller, David T.; Lee, Kristy; Abul-Husn, Noura S.; Amendla, 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 分享 收藏
Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience Muenzen, Kathleen D.; Amendola, Laura M.; Kauffman, Tia L.; Mittendorf, Kathleen F.; Bensen, Jeannette T.; Chen, Flavia; Green, Richard; Powell, Bradford C.; Kvale, Mark; Angelo, Frank; Farnan, Laura; Fullerton, Stephanie M.; Robinson, Jill O.; Li, Tianran; Murali, Priyanka; Lawlor, James M. J.; Ou, Jeffrey; Hindorff, Lucia A.; Jarvik, Gail P.; Crosslin, David R. 分享 收藏
Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access Amendola, Laura M.; Shuster, Elizabeth; Leo, Michael C.; Dorschner, Michael O.; Rolf, Bradley A.; Shirts, Brian H.; Gilmore, Marian J.; Okuyama, Sonia; Zepp, Jamilyn M.; Kauffman, Tia L.; Mittendorf, Kathleen F.; Bellcross, Cecilia; Jenkins, Charisma L.; Joseph, Galen; Riddle, Leslie; Syngal, Sapna; Ukaegbu, Chinedu; Goddard, Katrina A. B.; Wilfond, Benjamin S.; Jarvik, Gail P. 分享 收藏
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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain PRKAR1B的变异导致自闭症谱系障碍，失用症和对疼痛不敏感的神经发育障碍 Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P. 分享 收藏
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) 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 分享 收藏
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