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6
Academic Journal
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis

Authors: Zhou, Xinyao, Zhou, Jia, Wei, Xing, Yao, Ruen, Yang, Yingjun, Deng, Linbei, Zou, Gang, Wang, Xietong, Yang, Yaping, Duan, Tao, Wang, Jian, Sun, Luming

Contributors: National Key Research and Development Program of China, National Natural Science Foundation of China

Superior Title: Frontiers in Genetics ; volume 12 ; ISSN 1664-8021

Subject Terms: Genetics (clinical), Genetics, Molecular Medicine

Availability: https://doi.org/10.3389/fgene.2021.616392

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8
Academic Journal
Additional file 3 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits ...

Authors: Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, Sinson, Jefferson, Dai, Hongzheng, Zhu, Wenmiao, Bocanegra, Francia, Fong, Chin-To, Holder, Jimmy, Nguyen, Joanne, Schaaf, Christian P., Yang, Yaping, Bi, Weimin, Eng, Christine, Shaw, Chad, Lupski, James R., Liu, Pengfei

Subject Terms: Genetics, FOS Biological sciences

Relation: https://dx.doi.org/10.1016/j.cell.2011.09.008; https://dx.doi.org/10.1002/ajmg.a.62434; https://dx.doi.org/10.1038/s41436-018-0408-7; https://dx.doi.org/10.1126/science.aar6731; https://dx.doi.org/10.1038/s41467-020-14284-2; https://dx.doi.org/10.1016/j.ajhg.2019.07.011; https://dx.doi.org/10.1038/nrg3241; https://dx.doi.org/10.1016/s0021-9258%2818%2937323-x; https://dx.doi.org/10.1038/ng.862; https://dx.doi.org/10.1038/d41586-021-00294-7; https://dx.doi.org/10.1038/s41431-020-0632-x; https://dx.doi.org/10.1016/j.ajhg.2018.12.018; https://dx.doi.org/10.1016/j.gde.2012.02.012; https://dx.doi.org/10.1016/j.gde.2016.08.001; https://dx.doi.org/10.1002/em.21943; https://dx.doi.org/10.1038/ng.2007.40; https://dx.doi.org/10.1038/ng.658; https://dx.doi.org/10.1016/j.cell.2019.01.045; https://dx.doi.org/10.1038/gim.2012.164; https://dx.doi.org/10.1038/s41586-020-2287-8

Availability: https://doi.org/10.6084/m9.figshare.2125695310.1016/j.cell.2011.09.00810.1002/ajmg.a.6243410.1038/s41436-018-0408-710.1126/science.aar673110.1038/s41467-020-14284-210.1016/j.ajhg.2019.07.01110.1038/nrg324110.1016/s0021-9258%2818%2937323-x10.1038/ng.86210.1038/d41586-021-00294-710.1038/s41431-020-0632-x10.1016/j.ajhg.2018.12.01810.1016/j.gde.2012.02.01210.1016/j.gde.2016.08.00110.1002/em.2194310.1038/ng.2007.4010.1038/ng.65810.1016/j.cell.2019.01.04510.1038/gim.2012.16410.1038/s41586-020-2287-8
https://springernature.figshare.com/articles/journal_contribution/Additional_file_3_of_Sequencing_individual_genomes_with_recurrent_genomic_disorder_deletions_an_approach_to_characterize_genes_for_autosomal_recessive_rare_disease_traits/21256953

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9
Academic Journal
Additional file 2 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits ...

Authors: Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, Sinson, Jefferson, Dai, Hongzheng, Zhu, Wenmiao, Bocanegra, Francia, Fong, Chin-To, Holder, Jimmy, Nguyen, Joanne, Schaaf, Christian P., Yang, Yaping, Bi, Weimin, Eng, Christine, Shaw, Chad, Lupski, James R., Liu, Pengfei

Subject Terms: Genetics, FOS Biological sciences

Relation: https://dx.doi.org/10.6084/m9.figshare.21256950; https://dx.doi.org/10.1016/j.cell.2011.09.008; https://dx.doi.org/10.1002/ajmg.a.62434; https://dx.doi.org/10.1038/s41436-018-0408-7; https://dx.doi.org/10.1126/science.aar6731; https://dx.doi.org/10.1038/s41467-020-14284-2; https://dx.doi.org/10.1016/j.ajhg.2019.07.011; https://dx.doi.org/10.1038/nrg3241; https://dx.doi.org/10.1016/s0021-9258%2818%2937323-x; https://dx.doi.org/10.1038/ng.862; https://dx.doi.org/10.1038/d41586-021-00294-7; https://dx.doi.org/10.1038/s41431-020-0632-x; https://dx.doi.org/10.1016/j.ajhg.2018.12.018; https://dx.doi.org/10.1016/j.gde.2012.02.012; https://dx.doi.org/10.1016/j.gde.2016.08.001; https://dx.doi.org/10.1002/em.21943; https://dx.doi.org/10.1038/ng.2007.40; https://dx.doi.org/10.1038/ng.658; https://dx.doi.org/10.1016/j.cell.2019.01.045; https://dx.doi.org/10.1038/gim.2012.164

Availability: https://doi.org/10.6084/m9.figshare.21256950.v110.6084/m9.figshare.2125695010.1016/j.cell.2011.09.00810.1002/ajmg.a.6243410.1038/s41436-018-0408-710.1126/science.aar673110.1038/s41467-020-14284-210.1016/j.ajhg.2019.07.01110.1038/nrg324110.1016/s0021-9258%2818%2937323-x10.1038/ng.86210.1038/d41586-021-00294-710.1038/s41431-020-0632-x10.1016/j.ajhg.2018.12.01810.1016/j.gde.2012.02.01210.1016/j.gde.2016.08.00110.1002/em.2194310.1038/ng.2007.4010.1038/ng.65810.1016/j.cell.2019.01.04510.1038/gim.2012.164
https://springernature.figshare.com/articles/journal_contribution/Additional_file_2_of_Sequencing_individual_genomes_with_recurrent_genomic_disorder_deletions_an_approach_to_characterize_genes_for_autosomal_recessive_rare_disease_traits/21256950/1

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12
Academic Journal
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Authors: Sun, Yu, Xiang, Jiale, Liu, Yidong, Chen, Sen, Yu, Jintao, Peng, Jiguang, Liu, Zijing, Chen, Lisha, Sun, Jun, Yang, Yun, Yang, Yaping, Zhou, Yulin, Peng, Zhiyu

Contributors: National Natural Science Foundation of China, Xiamen Municipal Bureau of Science and Technology

Superior Title: BMC Medical Genomics ; volume 12, issue 1 ; ISSN 1755-8794

Subject Terms: Genetics(clinical), Genetics

Availability: https://doi.org/10.1186/s12920-019-0531-6

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14
Academic Journal
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Authors: Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, J. Lloyd, Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei

Contributors: National Human Genome Research Institute, NHGRI/NHLBI, National Institute of Neurological Disorders and Stroke, Health Innovation Challenge Fund, Wellcome Trust

Superior Title: Genome Medicine ; volume 11, issue 1 ; ISSN 1756-994X

Subject Terms: Genetics(clinical), Genetics, Molecular Biology, Molecular Medicine

Availability: https://doi.org/10.1186/s13073-019-0623-0

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15
Academic Journal
Development and validation of nomograms predicting survival in Chinese patients with triple negative breast cancer

Authors: Yang, Yaping, Wang, Ying, Deng, Heran, Tan, Cui, Li, Qian, He, Zhanghai, Wei, Wei, Zhou, Enxiang, Liu, Qiang, Liu, Jieqiong

Contributors: National Natural Science Foundation of China, Key Laboratory of Malignant Tumor Molecular Mechanism and Translational Medicine of Guangzhou Bureau of Science and Information Technology, Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes

Superior Title: BMC Cancer ; volume 19, issue 1 ; ISSN 1471-2407

Subject Terms: Cancer Research, Genetics, Oncology

Availability: https://doi.org/10.1186/s12885-019-5703-4

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16
Academic Journal
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Authors: Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder Jr, J., Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei

Superior Title: Genome Medicine ; volume 11, issue 1 ; ISSN 1756-994X

Subject Terms: Genetics(clinical), Genetics, Molecular Biology, Molecular Medicine

Availability: https://doi.org/10.1186/s13073-019-0630-1

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18
Academic Journal
A Genocentric Approach to Discovery of Mendelian Disorders

Authors: Hansen, Adam W., Murugan, Mullai, Li, He, Khayat, Michael M., Wang, Liwen, Rosenfeld, Jill, Andrews, B. Kim, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Sedlazeck, Fritz J., Ashley-Koch, Allison E., Liu, Pengfei, Muzny, Donna M., Davis, Erica E., Katsanis, Nicholas, Sabo, Aniko, Posey, Jennifer E., Yang, Yaping, Wangler, Michael F., Eng, Christine M., Sutton, V. Reid, Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A., Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John

Contributors: National Human Genome Research Institute, NHGRI/National Heart, Lung, and Blood Institute, National Institute of Neurological Disorders and Stroke, National Institute of Diabetes and Digestive and Kidney Diseases, Baylor College of Medicine President’s Circle Precision Medicine/Population Health Initiative, NIH, The Cullen Foundation, NHGRI

Superior Title: The American Journal of Human Genetics ; volume 105, issue 5, page 974-986 ; ISSN 0002-9297

Subject Terms: Genetics (clinical), Genetics

Availability: https://doi.org/10.1016/j.ajhg.2019.09.027
https://api.elsevier.com/content/article/PII:S000292971930388X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292971930388X?httpAccept=text/plain

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19
Academic Journal
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

Authors: Zouk, Hana, Venner, Eric, Lennon, Niall J., Muzny, Donna M., Abrams, Debra, Adunyah, Samuel, Albertson-Junkans, Ladia, Ames, Darren C., Appelbaum, Paul, Aronson, Samuel, Aufox, Sharon, Babb, Lawrence J., Balasubramanian, Adithya, Bangash, Hana, Basford, Melissa, Bastarache, Lisa, Baxter, Samantha, Behr, Meckenzie, Benoit, Barbara, Bhoj, Elizabeth, Bielinski, Suzette J., Bland, Harris T., Blout, Carrie, Borthwick, Kenneth, Bottinger, Erwin P., Bowser, Mark, Brand, Harrison, Brilliant, Murray, Brodeur, Wendy, Caraballo, Pedro, Carrell, David, Carroll, Andrew, Almoguera, Berta, Castillo, Lisa, Castro, Victor, Chandanavelli, Gauthami, Chiang, Theodore, Chisholm, Rex L., Christensen, Kurt D., Chung, Wendy, Chute, Christopher G., City, Brittany, Cobb, Beth L., Connolly, John J., Crane, Paul, Crew, Katherine, Crosslin, David, De Andrade, Mariza, De la Cruz, Jessica, Denson, Shawn, Denny, Josh, DeSmet, Tim, Dikilitas, Ozan, Friedrich, Christopher, Fullerton, Stephanie M., Funke, Birgit, Gabriel, Stacey, Gainer, Vivian, Gharavi, Ali, Glazer, Andrew M., Glessner, Joseph T., Goehringer, Jessica, Gordon, Adam S., Graham, Chet, Green, Robert C., Gundelach, Justin H., Dayal, Jyoti, Hain, Heather S., Hakonarson, Hakon, Harden, Maegan V., Harley, John, Harr, Margaret, Hartzler, Andrea, Hayes, M. Geoffrey, Hebbring, Scott, Henrikson, Nora, Hershey, Andrew, Hoell, Christin, Holm, Ingrid, Howell, Kayla M., Hripcsak, George, Hu, Jianhong, Jarvik, Gail P., Jayaseelan, Joy C., Jiang, Yunyun, Joo, Yoonjung Yoonie, Jose, Sheethal, Josyula, Navya Shilpa, Justice, Anne E., Kalla, Sara E., Kalra, Divya, Karlson, Elizabeth, Kelly, Melissa A., Keating, Brendan J., Kenny, Eimear E., Key, Dustin, Kiryluk, Krzysztof, Kitchner, Terrie, Klanderman, Barbara, Klee, Eric, Kochan, David C., Korchina, Viktoriya, Kottyan, Leah, Kovar, Christie, Kudalkar, Emily, Kullo, Iftikhar J., Lammers, Philip, Larson, Eric B., Lebo, Matthew S., Leduc, Magalie, Lee, Ming Ta (Michael), Leppig, Kathleen A., Leslie, Nancy D., Li, Rongling, Liang, Wayne H., Lin, Chiao-Feng, Linder, Jodell, Lindor, Noralane M., Lingren, Todd, Linneman, James G., Liu, Cong, Liu, Wen, Liu, Xiuping, Lynch, John, Lyon, Hayley, Macbeth, Alyssa, Mahadeshwar, Harshad, Mahanta, Lisa, Malin, Brad, Manolio, Teri, Marasa, Maddalena, Marsolo, Keith, Dinsmore, Michael J., Dodge, Sheila, Hynes, Elizabeth Duffy, Dunlea, Phil, Edwards, Todd L., Eng, Christine M., Fasel, David, Fedotov, Alex, Feng, Qiping, Fleharty, Mark, Foster, Andrea, Freimuth, Robert, McGowan, Michelle L., McNally, Elizabeth, Meldrim, Jim, Mentch, Frank, Mosley, Jonathan, Mukherjee, Shubhabrata, Mullen, Thomas E., Muniz, Jesse, Murdock, David R., Murphy, Shawn, Murugan, Mullai, Myers, Melanie F., Namjou, Bahram, Ni, Yizhao, Obeng, Aniwaa Owusu, Onofrio, Robert C., Taylor, Casey Overby, Person, Thomas N., Peterson, Josh F., Petukhova, Lynn, Pisieczko, Cassandra J., Pratap, Siddharth, Prows, Cynthia A., Puckelwartz, Megan J., Rahm, Alanna Kulchak, Raj, Ritika, Ralston, James D., Ramaprasan, Arvind, Ramirez, Andrea, Rasmussen, Luke, Rasmussen-Torvik, Laura, Rasouly, Hila Milo, Raychaudhuri, Soumya, Ritchie, Marylyn D., Rives, Catherine, Riza, Beenish, Roden, Dan, Rosenthal, Elisabeth A., Santani, Avni, Schaid, Dan, Scherer, Steven, Scott, Stuart, Scrol, Aaron, Sengupta, Soumitra, Shang, Ning, Sharma, Himanshu, Sharp, Richard R., Singh, Rajbir, Sleiman, Patrick M.A., Slowik, Kara, Smith, Joshua C., Smith, Maureen E., Smoller, Jordan W., Sohn, Sunghwan, Stanaway, Ian B., Starren, Justin, Stroud, Mary, Su, Jessica, Tolwinski, Kasia, Van Driest, Sara L., Vargas, Sean M., Varugheese, Matthew, Veenstra, David, Verbitsky, Miguel, Vicente, Gina, Wagner, Michael, Walker, Kimberly, Walunas, Theresa, Wang, Liwen, Wang, Qiaoyan, Wei, Wei-Qi, Weiss, Scott T., Wiesner, Georgia L., Wells, Quinn, Weng, Chunhua, White, Peter S., Wiley, Ken L., Williams, Janet L., Williams, Marc S., Wilson, Michael W., Witkowski, Leora, Woods, Laura Allison, Woolf, Betty, Wu, Tsung-Jung, Wynn, Julia, Yang, Yaping, Yi, Victoria, Zhang, Ge, Zhang, Lan, Rehm, Heidi L., Gibbs, Richard A.

Contributors: NHGRI

Superior Title: The American Journal of Human Genetics ; volume 105, issue 3, page 588-605 ; ISSN 0002-9297

Subject Terms: Genetics (clinical), Genetics

Availability: https://doi.org/10.1016/j.ajhg.2019.07.018
https://api.elsevier.com/content/article/PII:S0002929719303015?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719303015?httpAccept=text/plain

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20
Academic Journal
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Authors: Burrage, Lindsay C., Reynolds, John J., Baratang, Nissan Vida, Phillips, Jennifer B., Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R., Christiansen, Audrey E., Lanza, Denise G., Seavitt, John R., Jain, Mahim, Li, Xiaohui, Parry, David A., Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Karaviti, Lefkothea, Schlesinger, Alan E., Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N., Eng, Christine M., Gibbs, Richard A., Bi, Weimin, Emrick, Lisa, Rosenfeld, Jill A., Postlethwait, John, Westerfield, Monte, Dickinson, Mary E., Beaudet, Arthur L., Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D., Orange, Jordan S., Bertola, Débora, Yamamoto, Guilherme L., Baratela, Wagner A.R., Butler, Merlin G., Ali, Asim, Adeli, Mehdi, Cohn, Daniel H., Krakow, Deborah, Jackson, Andrew P., Lees, Melissa, Offiah, Amaka C., Carlston, Colleen M., Carey, John C., Stewart, Grant S., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan, Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orengo, James P., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D.M., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tan, Queenie K.-G., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zheng, Allison

Contributors: National Institutes of Health, University of Utah Pathology Departmental Funds, Associated Regional and University Pathologists (ARUP) Laboratories, Burroughs Wellcome Fund, National Institute of General Medical Sciences, Canadian Institutes of Health Research, Fonds de Recherche du Québec - Santé, Quebec Network for Oral and Bone Health Research, Cancer Research UK, University of Birmingham, Medical Research Council, MRC UK, European Research Council, European Union’s Horizon 2020 research and innovation program, Telethon Italy, São Paulo Research Foundation

Superior Title: The American Journal of Human Genetics ; volume 104, issue 3, page 422-438 ; ISSN 0002-9297

Subject Terms: Genetics (clinical), Genetics

Availability: https://doi.org/10.1016/j.ajhg.2019.01.007
https://api.elsevier.com/content/article/PII:S0002929719300072?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719300072?httpAccept=text/plain

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