Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3 by Chong, Jessica X., Burrage, Lindsay C., Beck, Anita E., Marvin, Colby T., McMillin, Margaret J., Shively, Kathryn M., Harrell, Tanya M., Buckingham, Kati J., Bacino, Carlos A., Jain, Mahim, Alanay, Yasemin, Berry, Susan A., Carey, John C., Gibbs, Richard A., Lee, Brendan H., Krakow, Deborah, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.

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Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D by McMillin, Margaret J., Below, Jennifer E., Shively, Kathryn M., Beck, Anita E., Gildersleeve, Heidi I., Pinner, Jason, Gogola, Gloria R., Hecht, Jacqueline T., Grange, Dorothy K., Harris, David J., Earl, Dawn L., Jagadeesh, Sujatha, Mehta, Sarju G., Robertson, Stephen P., Swanson, James M., Faustman, Elaine M., Mefford, Heather C., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia by Below, Jennifer E., Earl, Dawn L., Shively, Kathryn M., McMillin, Margaret J., Smith, Joshua D., Turner, Emily H., Stephan, Mark J., Al-Gazali, Lihadh I., Hertecant, Jozef L., Chitayat, David, Unger, Sheila, Cohn, Daniel H., Krakow, Deborah, Swanson, James M., Faustman, Elaine M., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome by Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, Anne K., Giovannucci Uzielli, Maria Luisa, Gordon, Christopher T., Plessis, Ghislaine, Le Merrer, Martine, Amiel, Jeanne, Reichenberger, Ernst, Shively, Kathryn M., Cerrato, Felecia, Labow, Brian I., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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Genotype-phenotype relationships in Freeman-Sheldon syndrome by Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I. S., Shively, Kathryn M. B., Tang, Andy, Bamshad, Michael J.

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects by Chong, Jessica X., Childers, Matthew Carter, Marvin, Colby T., Marcello, Anthony J., Gonorazky, Hernan, Hazrati, Lili-Naz, Dowling, James J., Al Amrani, Fatema, Alanay, Yasemin, Nieto, Yolanda, Gabriel, Miguel Á Marín, Aylsworth, Arthur S., Buckingham, Kati J., Shively, Kathryn M., Sommers, Olivia, Anderson, Kailyn, Regnier, Michael, Bamshad, Michael J.

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 by McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis by Chong, Jessica X., Talbot, Jared C., Teets, Emily M., Previs, Samantha, Martin, Brit L., Shively, Kathryn M., Marvin, Colby T., Aylsworth, Arthur S., Saadeh-Haddad, Reem, Schatz, Ulrich A., Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J., Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M., Nayak, Shalini S., Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A., Warshaw, David M., Janssen, Paul M.L., Amacher, Sharon L., Bamshad, Michael J.

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Response to Hall et al by Chong, Jessica X, Talbot, Jared C, Teets, Emily M, Previs, Samantha, Martin, Brit L, Shively, Kathryn M, Marvin, Colby T, Aylsworth, Arthur S, Saadeh-Haddad, Reem, Schatz, Ulrich A, Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J, Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M, Nayak, Shalini S, Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A, Warshaw, David, Janssen, Paul M, Amacher, Sharon L, Bamshad, Michael J

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Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats by Buckingham, Kati J, McMillin, Margaret J, Brassil, Margaret M, Shively, Kathryn M, Magnaye, Kevin M, Cortes, Alejandro, Weinmann, Amy S, Lyons, Leslie A, Bamshad, Michael J

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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder by Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Annable, Marcus, Blue, Elizabeth Marchani, Buckingham, Kati J., Chin, Jennifer, Chong, Jessica X., Cornejo, Rodolfo, Davis, Colleen P., Frazar, Christopher, He, Zongxiao, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Kolar, Tom, Krauter, Stephanie A., Luksic, Daniel, Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Robertson, Peggy D., Santos-Cortez, Regie, Shankar, Aditi, Slattery, Krystal, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Tackett, Monica, Wang, Gao, Wegener, Marc, Weiss, Jeffrey M., Wernick, Riana I., Wheeler, Marsha M., Yi, Qian, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay by Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.

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Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting by Esterhuizen, Alina I., Tiffin, Nicki, Riordan, Gillian, Wessels, Marie, Burman, Richard J., Aziz, Miriam C., Calhoun, Jeffrey D., Gunti, Jonathan, Amiri, Ezra E., Ramamurthy, Aishwarya, Bamshad, Michael J., Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Buckingham, Kati J., Chong, Jessica X., Cornejo Sánchez, Diana, Davis, Colleen P., Davis, Chayna J., Frazar, Christian D., Gomeztagle-Burgess, Katherine, Gordon, William W., Horike-Pyne, Martha, Hurless, Jameson R., Jarvik, Gail P., Johanson, Eric, Thomas Kolar, J., Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Mekonnen, Betselote, Nielsen, Patrick M., Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Ryke, Erica L., Schrauwen, Isabelle, Shively, Kathryn M., Smith, Joshua D., Tackett, Monica, Wang, Gao, Weiss, Jeffrey M., Wheeler, Marsha M., Yi, Qian, Zhang, Xiaohong, Mefford, Heather C., Ramesar, Raj, Wilmshurst, Jo M., Carvill, Gemma L.

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Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance by Liaqat, Khurram, Schrauwen, Isabelle, Raza, Syed Irfan, Lee, Kwanghyuk, Hussain, Shabir, Chakchouk, Imen, Nasir, Abdul, Acharya, Anushree, Abbe, Izoduwa, Umair, Muhammad, Ansar, Muhammad, Ullah, Irfan, Shah, Khadim, Bamshad, Michael J, Nickerson, Deborah A, Ahmad, Wasim, Leal, Suzanne M

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Variants regulating ZBTB4 are associated with age‐at‐onset of Alzheimer's disease by Blue, E. E., Yu, C.‐E., Thornton, T. A., Chapman, N. H., Kernfeld, E., Jiang, N., Shively, K. M., Buckingham, K. J., Marvin, C. T., Bamshad, M. J., Bird, T. D., Wijsman, E. M.

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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population by Shahzad, Mohsin, Yousaf, Sairah, Waryah, Yar M, Gul, Hadia, Kausar, Tasleem, Tariq, Nabeela, Mahmood, Umair, Ali, Muhammad, Khan, Muzammil A, Waryah, Ali M, Shaikh, Rehan S, Riazuddin, Saima, Ahmed, Zubair M

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Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment by Schrauwen, Isabelle, Chakchouk, Imen, Acharya, Anushree, Liaqat, Khurram, Irfanullah, Nickerson, Deborah A, Bamshad, Michael J, Shah, Khadim, Ahmad, Wasim, Leal, Suzanne M

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The Short Isoform of the CEACAM1 Receptor in Intestinal T Cells Regulates Mucosal Immunity and Homeostasis via Tfh Cell Induction by Chen, Lanfen, Chen, Zhangguo, Baker, Kristi, Halvorsen, Elizabeth M., Pires da Cunha, Andre, Flak, Magdalena B., Gerber, Georg, Huang, Yu-Hwa, Hosomi, Shuhei, Arthur, Janelle C., Dery, Ken J., Nagaishi, Takashi, Beauchemin, Nicole, Holmes, Kathryn V., Ho, Joshua W.K., Shively, John E., Jobin, Christian, Onderdonk, Andrew B., Bry, Lynn, Weiner, Howard L., Higgins, Darren E., Blumberg, Richard S.

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Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1 by Mackelprang, Romel D, Bamshad, Michael J, Chong, Jessica X, Hou, Xuanlin, Buckingham, Kati J, Shively, Kathryn, deBruyn, Guy, Mugo, Nelly R, Mullins, James I, McElrath, M Juliana, Baeten, Jared M, Celum, Connie, Emond, Mary J, Lingappa, Jairam R

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Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1 by Mackelprang, Romel D, Bamshad, Michael J, Chong, Jessica X, Hou, Xuanlin, Buckingham, Kati J, Shively, Kathryn, deBruyn, Guy, Mugo, Nelly R, Mullins, James I, McElrath, M Juliana, Baeten, Jared M, Celum, Connie, Emond, Mary J, Lingappa, Jairam R

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