Examining Older Adults’ Attitudes and Perceptions of Cancer Screening and Overscreening: A Qualitative Study by Roy, Siddhartha, Moss, Jennifer L., Rodriguez-Colon, Sol M., Shen, Chan, Cooper, Joie D., Lennon, Robert P., Lengerich, Eugene J., Adelman, Alan, Curry, William, Ruffin, Mack T.

Get full text

Geographic Variation in Overscreening for Colorectal, Cervical, and Breast Cancer Among Older Adults by Moss, Jennifer L, Roy, Siddhartha, Shen, Chan, Cooper, Joie D, Lennon, Robert P, Lengerich, Eugene J, Adelman, Alan, Curry, William, Ruffin, 4th, Mack T

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

Variable clinical severity in TANGO2 deficiency: Case series and literature review by Schymick, Jennifer, Leahy, Peter, Cowan, Tina, Ruzhnikov, Maura R. Z., Gates, Ryan, Fernandez, Liliana, Pramanik, Gopal, Yarlagadda, Vamsi, Wheeler, Matthew, Bernstein, Jonathan A., Enns, Gregory M., Lee, Chung

Get full text

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling by Morleo, Manuela, Briere, Lauren C., Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, High, Frances A., Adams, David R., Alvey, Justin, Bale, Jim, Bayrak-Toydemir, Pinar, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bonner, Devon, Butte, Manish J., Byrd, William E., Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, Horike-Pyne, Martha, Huang, Alden, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marwaha, Shruti, Mirzaa, Ghayda, Morava, Eva, Nakano-Okuno, Mariko, Nicholas, Sarah K., Pallais, J. Carl, Raskind, Wendy, Rosenwasser, Natalie, Sampson, Jacinda B., Schedl, Timothy, Shashi, Vandana, Smith, Edward C., Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Massimello, Marta, Leuzzi, Vincenzo, Romano, Corrado, Amenta, Simona, Grandone, Anna, Marini, Carla, Bigoni, Stefania, Trabacca, Antonio, De Rinaldis, Marta, Ferrante, Luigi, Torella, Annalaura, Tenconi, Romano, van Gassen, Koen L.I., Attie-Bitach, Tania, Zollino, Marcella, Sweetser, David A.

Get full text

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder by Mignot, Cyril, Littlejohn, Rebecca O., Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Peter Chang, Ta Chen, D'Souza, Precilla, Dasari, Surendra, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hutchison, Sarah, Izumi, Kosuke, Jarvik, Gail P., Jayadev, Suman, Jean-Marie, Orpa, Kennedy, Jennifer, Ketkar, Shamika, Kohane, Isaac S., Kohler, Jennefer N., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Levitt, Roy, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Morava, Eva, Nakano-Okuno, Mariko, Newman, John H., Nickerson, Deborah, Oglesbee, Devin, Pallais, J. Carl, Phillips, John A., Rosenwasser, Natalie, Schedl, Timothy, Shashi, Vandana, Sisco, Kathy, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Hubshman, Monika Weisz, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Sarret, Catherine, Platzer, Konrad, Fischer, Susann, Granadillo, Jorge L., Schreiner, Elisabeth

Get full text

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

Get full text

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

Get full text

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

Get full text

Participation in a national diagnostic research study: assessing the patient experience by Rosenfeld, Lindsay E, LeBlanc, Kimberly, Nagy, Anna, Ego, Braeden K, McCray, Alexa T

Get full text

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome by Keehan, Laura, Jiang, Ming‐Ming, Li, Xiaohui, Marom, Ronit, Dai, Hongzheng, Murdock, David, Liu, Pengfei, Hunter, Jill V., Heaney, Jason D., Robak, Laurie, Emrick, Lisa, Lotze, Timothy, Blieden, Lauren S., Lewis, Richard Alan, Levin, Alex V., Capasso, Jenina, Craigen, William J., Rosenfeld, Jill A., Lee, Brendan, Burrage, Lindsay C.

Get full text

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

Get full text

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literatu... by Magyar, Christina L., Murdock, David R., Burrage, Lindsay C., Dai, Hongzheng, Lalani, Seema R., Lewis, Richard A., Lin, Yuezhen, Astudillo, Marcela F., Rosenfeld, Jill A., Tran, Alyssa A., Gibson, James B., Bacino, Carlos A., Lee, Brendan H., Chao, Hsiao‐Tuan

Get full text

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

Get full text

Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network by LeBlanc, Kimberly, Glanton, Emily, Nagy, Anna, Bater, Jorick, Berro, Tala, McGuinness, Molly A, Studwell, Courtney, Might, Matthew

Get full text

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling by Marcogliese, Paul C, Dutta, Debdeep, Ray, Shrestha Sinha, Dang, Nghi D P, Zuo, Zhongyuan, Wang, Yuchun, Lu, Di, Fazal, Fatima, Ravenscroft, Thomas A, Chung, Hyunglok, Kanca, Oguz, Wan, JiJun, Douine, Emilie D, Network, Undiagnosed Diseases, Pena, Loren D M, Yamamoto, Shinya, Nelson, Stanley F, Might, Matthew, Meyer, Kathrin C, Yeo, Nan Cher, Bellen, Hugo J

Get full text

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

Get full text