Multiple Myeloma in the Afro-Caribbean Inner City Population: Conventional Cytogenetics and Survival by Thakker, Dhvani, Yun, Charles, Goldrich, Adam, Elizabeth, Helzner, Fein, Daniel, Taiwo, Evelyn O., Gonsky, Jason, Batuman, Olcay

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Cytogenetic Profile Of Multiple Myeloma In The Inner City: Clinical Presentation and Survival by Goldrich, Adam, Kriplani, Anuja, Melanthiou, Andriane, Fein, Daniel, Helzner, Elizabeth, Babu, Arvind, Gonsky, Jason, Batuman, Olcay

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Predicting Therapy-Related Acute Myeloid Leukemia By Routine Laboratory Values: An Analysis Of 126 Patients With Breast Cancer Referred For Bone Marrow Biopsy At Memorial Sloan-Ket... by Stein, Eytan M, Hsu, Meier, Goldrich, Adam, Kishtagari, Ashwin, Devlin, Sean M., Tallman, Martin S., Soff, Gerald A., Parameswaran, Rekha

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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision by Baldridge, Dustin, Wangler, Michael F, Bowman, Angela N, Yamamoto, Shinya, Schedl, Tim, Pak, Stephen C, Postlethwait, John H, Shin, Jimann, Solnica-Krezel, Lilianna, Bellen, Hugo J, Westerfield, Monte

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder by Tepe, Burak, Cogne, Benjamin, Neil, Jennifer E., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Blanc, Pierre, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak-Toydemir, Pinar, Beck, Anita, Behrens, Edward, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Byers, Peter, Byrd, William E., Carey, John, Clark, Gary D., Coakley, Terra R., Colley, Heather A., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Emrick, Lisa T., Fernandez, Liliana, Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden-Grant, Katie, Goldrich, Madison P., Gutierrez, Irma, Hamid, Rizwan, Hayes, Nichole, Hom, Jason, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N., Krasnewich, Donna M., LeBlanc, Kimberly, Levitt, Roy, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Merritt, J. Lawrence, Morava, Eva, Newman, John H., Nickerson, Deborah, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Palmer, Christina GS, Papp, Jeanette C., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Scott, C. Ron, Shin, Jimann, Sinsheimer, Janet S., Sullivan, Jennifer A., Sun, Angela, Tabor, Holly K., Telischi, Fred, Toro, Camilo, Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walker, Melissa, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Zuchner, Stephan

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Macrocephaly and developmental delay caused by missense variants in RAB5C by Koop, Klaas, Yuan, Weimin, Tessadori, Federico, Rodriguez-Polanco, Wilmer R, Grubbs, Jeremy, Zhang, Bo, Osmond, Matt, Graham, Gail, Sawyer, Sarah, Conboy, Erin, Vetrini, Francesco, Treat, Kayla, Płoski, Rafal, Pienkowski, Victor Murcia, Kłosowska, Anna, Fieg, Elizabeth, Krier, Joel, Mallebranche, Coralie, Alban, Ziegler, Aldinger, Kimberly A, Ritter, Deborah, Macnamara, Ellen, Sullivan, Bonnie, Herriges, John, Alaimo, Joseph T, Helbig, Catherine, Ellis, Colin A, van Eyk, Clare, Gecz, Jozef, Farrugia, Daniel, Osei-Owusu, Ikeoluwa, Adès, Lesley, van den Boogaard, Marie-Jose, Fuchs, Sabine, Bakker, Jeroen, Duran, Karen, Dawson, Zachary D, Lindsey, Anika, Huang, Huiyan, Baldridge, Dustin, Silverman, Gary A, Grant, Barth D, Raizen, David, van Haaften, Gijs, Pak, Stephen C, Rehmann, Holger, Schedl, Tim, van Hasselt, Peter

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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome by Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Abou Jamra, Rami, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna C E, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Qebibo, Leila, Wieczorek, Dagmar, Cravatt, Benjamin, Haricharan, Svasti, Torkamani, Ali, Friedman, Jennifer

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Aspirin misuse: a case report by Goldrich, David, Sreedhar, Anita, Aziz, Rehan, Kaufman, Kenneth R., Tobia, Anthony, Trenton, Adam

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EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder by Forghani, Irman, Adam, Margaret, Azamian, Mahshid S., Baker, Eva, Baldridge, Dustin, Bale, Jim, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Bican, Anna, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chang, Ta Chen Peter, Cogan, Joy D., Colley, Heather A., D'Souza, Precilla, Dasari, Surendra, Dell'Angelica, Esteban C., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Gochuico, Bernadette, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Kohler, Jennefer N., Krakow, Deborah, Kravets, Elijah, Koziura, Mary, Lam, Byron, Lam, Christina, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Liu, Pengfei, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Manolio, Teri A., Marth, Gabor, Martínez‐Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie‐Rosell, Allyn, McGee, Elisabeth, Might, Matthew, Mirzaa, Ghayda, Moretti, Paolo M., Mosbrook‐Davis, Deborah, Murdock, David R., Nieves‐Rodriguez, Shirley, Parker, Neil H., Phillips, John A., Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Solem, Emily, Stoler, Joan M., Sun, Angela, Tabor, Holly K., Tan, Amelia L. M., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Tucker, Brianna M., Vogel, Tiphanie P., Wambach, Jennifer, Wang, Lee‐kai, Wegner, Daniel, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Zein, Wadih, Zuchner, Stephan

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Continuing a search for a diagnosis: the impact of adolescence and family dynamics by Miller, Ilana M, Yashar, Beverly M, Macnamara, Ellen F

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H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome by Bivona, Stephanie, Peart, LéShon, Guo, Shengru, Adam, Margaret, Agrawal, Pankaj B., Alvey, Justin, Balasubramanyam, Ashok, Bayrak‐Toydemir, Pinar, Beck, Anita, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Chanprasert, Sirisak, Clark, Gary D., Coggins, Matthew, Cope, Heidi, Craigen, William J., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Ferreira, Carlos, Fisher, Paul G., Gahl, William A., Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, Horike‐Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jarvik, Gail P., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Christina, LaMoure, Grace L., Lee, Brendan H., Lincoln, Sharyn A., Loo, Sandra K., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, Mefford, Heather, Morava, Eva, Mulvihill, John J., Nakano‐Okuno, Mariko, Nath, Avi, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Pallais, J. Carl, Raskind, Wendy, Renteria, Genecee, Ruzhnikov, Maura, Samson, Susan L., Shashi, Vandana, Silverman, Edwin K., Sisco, Kathy, Solnica‐Krezel, Lilianna, Solomon, Ben, Sun, Angela, Sweetser, David A., Tan, Queenie K.‐G., Thorson, Willa, Thurm, Audrey, Tran, Alyssa A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wener, Mark, Wenger, Tara, Yang, John, Yousef, Muhammad

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Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors by McConkie-Rosell, Allyn, Spillmann, Rebecca C, Schoch, Kelly, Sullivan, Jennifer A, Walley, Nicole, McDonald, Marie, Hooper, Stephen R, Shashi, Vandana

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Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation by Kelley, Emily G., Boyd, Brenna M., Acosta, Maria T, Adams, David R, Amendola, Laura, Andrews, Ashley, Baker, Eva, Bale, Jim, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berry, Gerard T, Blue, Elizabeth, Bonnenmann, Carsten, Bonner, Devon, Brokamp, Elly, Brown, Gabrielle, Burrage, Lindsay C, Carrasquillo, Olveen, Chao, Hsiao‐Tuan, Sessions Cole, F, Cooper, Cynthia M, Crouse, Andrew B, Dai, Hongzheng, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dhar, Shweta U, Doherty, Daniel, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, Godfrey, Rena A, Golden‐Grant, Katie, Goldrich, Madison P, Groden, Catherine A, Gutierrez, Irma, Hahn, Sihoun, Hayes, Nichole, Hing, Anne, Isasi, Rosario, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N, Kohler, Jennefer N, Krasnewich, Donna M, Krier, Joel B, Latham, Lea, Lee, Hane, Liu, Xue Zhong, Maas, Richard L, Mak, Bryan C, Maclidan, May Christine V., Martínez‐Agosto, Julian A, McGee, Elisabeth, Might, Matthew, Moretti, Paolo M, Nicholas, Sarah K, Novacic, Donna, Pace, Laura, Papp, Jeanette C, Phillips, John A, Posey, Jennifer E, Potocki, Lorraine, Quinlan, Aaron, Rao, Deepak A, Rives, Lynette, Rosenfeld, Jill A, Smith, Edward C, Spillmann, Rebecca C, Stoler, Joan M, Sybert, Virginia, Tekin, Mustafa, Thorson, Willa, Thurm, Audrey, Toro, Camilo, Tucker, Brianna M, Vanderver, Adeline, Velinder, Matt, Vogel, Tiphanie P, Wallace, Stephanie, Walley, Nicole M, Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wangler, Michael F, Wener, Mark, Wenger, Tara, Yang, John, Yousef, Muhammad

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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey by Cope, Heidi, Hoppman, Nicole, Rehder, Catherine, Alkelai, Anna, Vilain, Eric, Shashi, Vandana, Acosta, Maria T, Adams, David R, Amendola, Laura, Andrews, Ashley, Bacino, Carlos A., Baker, Eva, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Brokamp, Elly, Brown, Gabrielle, Carrasquillo, Olveen, Chao, Hsiao‐Tuan, Cobban, Laurel A., Cogan, Joy D., Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Douine, Emilie D., Draper, David D., Fieg, Elizabeth L., Findley, Laurie C., Fogel, Brent L., Fresard, Laure, Golden‐Grant, Katie, Goldrich, Madison P, Grajewski, Alana, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Isasi, Rosario, Jarvik, Gail P., Jayadev, Suman, Karaviti, Lefkothea, Kohane, Isaac S., Kohler, Jennefer N., Kravets, Elijah, Lam, Byron, Lam, Christina, Lee, Hane, Levitt, Roy, Liu, Pengfei, Longo, Nicola, Majcherska, Marta M., Manolio, Teri A., Mao, Rong, Martínez‐Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Mirzaa, Ghayda, Mosbrook‐Davis, Deborah, Newman, John H, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Raskind, Wendy, Raja, Archana N., Rosenfeld, Jill A., Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schoch, Kelly, Signer, Rebecca, Sisco, Kathy, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Kathleen, Tabor, Holly K., Tifft, Cynthia J., Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Wener, Mark, Wheeler, Matthew T., Whitlock, Jordan, Yang, John, Zhao, Chunli

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A description of novel variants and review of phenotypic spectrum in UBA5 -related early epileptic encephalopathy by Briere, Lauren C, Walker, Melissa A, High, Frances A, Cooper, Cynthia, Rogers, Cassandra A, Callahan, Christine J, Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A, Sharma, Nutan, Brokamp, Elly, Koziura, Mary E, Mohammad, Shekeeb S, Dale, Russell C, Riley, Lisa G, Phillips, John A, Komatsu, Masaaki, Sweetser, David A

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Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease by Adams, David R., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Brokamp, Elly, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chang, Ta Chen Peter, Coakley, Terra R., Colley, Heather A., Cooper, Cynthia M., Dasari, Surendra, Dayal, Jyoti G., Duncan, Laura, Eng, Christine M., Esteves, Cecilia, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden‐Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Kohane, Isaac S., Kohler, Jennefer N., Kravets, Elijah, Lam, Byron, Lam, Christina, Lee, Hane, Levitt, Roy, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martínez‐Agosto, Julian A., McCauley, Jacob, McConkie‐Rosell, Allyn, McGee, Elisabeth, Might, Matthew, Moretti, Paolo M., Mosbrook‐Davis, Deborah, Nagy, Anna, Nelson, Stan F., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pallais, J. Carl, Parker, Neil H., Phillips, John A., Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Rao, Deepak A., Robertson, Amy K., Rosenwasser, Natalie, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, C. Ron, Scott, Daryl A., Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Solem, Emily, Stoler, Joan M., Sullivan, Jennifer A., Tifft, Cynthia J., Toro, Camilo, Vanderver, Adeline, Vogel, Tiphanie P., Walker, Melissa, Wambach, Jennifer, Wang, Lee‐kai, Ward, Patricia A., Wegner, Daniel, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Woods, Jeremy D., Yang, John

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