Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Autor: Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, 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, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V. ^{1, †}, Kumar, Raman ^{1, †}, Oishi, Sabrina ⁴, Alexander, Suzy ^{5, 7}, Kasherman, Maria ^{4, 6}, Vega, Michelle Sanchez ⁵, Ivancevic, Atma ^{1, 8}, Gardner, Alison ¹, Domingo, Deepti ¹, Corbett, Mark ¹, Parnell, Euan ⁹, Yoon, Sehyoun ⁹, Oh, Tracey ³⁵, Lines, Matthew ³⁷, Lefroy, Henrietta ³⁹, Kini, Usha ³⁹, Van Allen, Margot ³⁶, Grønborg, Sabine ⁴¹, Mercier, Sandra ⁴², Küry, Sébastien ⁴², Bézieau, Stéphane ⁴², Pasquier, Laurent ⁴³, Raynaud, Martine ⁴⁴, Afenjar, Alexandra ⁴⁵, Billette de Villemeur, Thierry ⁴⁶, Keren, Boris ⁴⁷, Désir, Julie ⁴⁹, Van Maldergem, Lionel ⁴⁸, Marangoni, Martina ⁴⁹, Dikow, Nicola ⁵¹, Koolen, David A. ⁵², VanHasselt, Peter M. ⁵³, Weiss, Marjan ⁵⁵, Zwijnenburg, Petra ⁵⁹, Sa, Joaquim ⁵⁹, Reis, Claudia Falcao ⁵⁹, López-Otín, Carlos ^{60, 61}, Santiago-Fernández, Olaya ⁶⁰, Fernández-Jaén, Alberto ⁶², Rauch, Anita ⁶⁴, Steindl, Katharina ⁶⁴, Joset, Pascal ⁶⁴, Goldstein, Amy ¹⁰, Madan-Khetarpal, Suneeta ¹², Infante, Elena ¹², Zackai, Elaine ¹⁰, Mcdougall, Carey ¹⁰, Narayanan, Vinodh ¹³, Ramsey, Keri ¹³, Mercimek-Andrews, Saadet ³⁸, Pinto e Vairo, Filippo ^{19, 20}, Pichurin, Pavel N. ¹⁹, Ewing, Sarah A. ¹⁹, Barnett, Sarah S. ²¹, Klee, Eric W. ¹⁹, Perry, M. Scott ²², Koenig, Mary Kay ²³, Keegan, Catherine E. ²⁵, Schuette, Jane L. ²⁵, Asher, Stephanie ¹¹, Perilla-Young, Yezmin ¹⁸, Smith, Laurie D. ¹⁸, Bhoj, Elizabeth ¹⁰, Kaplan, Paige ¹⁰, Li, Dong ¹⁰, Oegema, Renske ⁵⁴, van Binsbergen, Ellen ⁵⁴, van der Zwaag, Bert ⁵⁴, Smeland, Marie Falkenberg ⁶⁵, Cutcutache, Ioana ⁴⁰, Page, Matthew ⁵⁰, Armstrong, Martin ⁵⁰, Lin, Angela E. ²⁶, Steeves, Marcie A. ²⁶, Hollander, Nicolette den ⁵⁶, Hoffer, Mariëtte J.V. ⁵⁶, Reijnders, Margot R.F. ⁵⁷, Demirdas, Serwet ⁵⁸, Koboldt, Daniel C. ¹⁵, Bartholomew, Dennis ¹⁵, Mosher, Theresa Mihalic ¹⁵, Hickey, Scott E. ¹⁶, Shieh, Christine ²⁷, Sanchez-Lara, Pedro A. ²⁸, Graham, John M., Jr. ²⁸, Tezcan, Kamer ³⁰, Schaefer, G.B. ³¹, Danylchuk, Noelle R. ³², Asamoah, Alexander ³³, Jackson, Kelly E. ³³, Yachelevich, Naomi ³⁴, Au, Margaret ²⁸, Pérez-Jurado, Luis A. ^{1, 2, 3, 63}, Kleefstra, Tjitske ⁵², Penzes, Peter ⁹, Wood, Stephen A. ⁶, Burne, Thomas ^{5, 7}, Pierson, Tyler Mark ^{28, 29}, Piper, Michael ^{4, 5}, Gécz, Jozef ^{1, 3, ∗∗}, Jolly, Lachlan A. ^{1, ∗}

Publikováno v: In Biological Psychiatry 15 January 2020 87(2):100-112

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

Autor: Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., 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., Burrage, Lindsay C., 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., Eng, Christine M., 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., Karaviti, Lefkothea, 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, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., 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., Westerfield, Monte, 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, Reynolds, John J. ^{3, 39}, Baratang, Nissan Vida ⁴, Phillips, Jennifer B. ⁵, Wegner, Jeremy ⁵, McFarquhar, Ashley ⁴, Higgs, Martin R. ³, Christiansen, Audrey E. ⁶, Lanza, Denise G. ¹, Seavitt, John R. ¹, Jain, Mahim ⁷, Li, Xiaohui ¹, Parry, David A. ⁸, Raman, Vandana ⁹, Chitayat, David ^{10, 11}, Chinn, Ivan K. ^{12, 13}, Bertuch, Alison A. ¹, Schlesinger, Alan E. ^{15, 16}, Earl, Dawn ¹⁷, Bamshad, Michael ^{17, 18}, Savarirayan, Ravi ¹⁹, Doddapaneni, Harsha ²⁰, Muzny, Donna ²⁰, Jhangiani, Shalini N. ²⁰, Gibbs, Richard A. ^{1, 20}, Bi, Weimin ^{1, 21}, Emrick, Lisa ^{1, 12, 22}, Postlethwait, John ⁵, Dickinson, Mary E. ^{1, 6}, Beaudet, Arthur L. ¹, Ranza, Emmanuelle ²³, Huber, Celine ²⁴, Cormier-Daire, Valérie ²⁴, Shen, Wei ^{25, 26}, Mao, Rong ^{25, 26}, Heaney, Jason D. ¹, Bertola, Débora ^{28, 29}, Yamamoto, Guilherme L. ^{28, 29}, Baratela, Wagner A.R. ²⁸, Butler, Merlin G. ³⁰, Ali, Asim ³¹, Adeli, Mehdi ³², Cohn, Daniel H. ³³, Krakow, Deborah ³⁴, Jackson, Andrew P. ³⁵, Lees, Melissa ³⁶, Offiah, Amaka C. ³⁷, Carlston, Colleen M. ^{25, 26}, Carey, John C. ³⁸, Stewart, Grant S. ^{3, 40}, Campeau, Philippe M. ^{4, 40}, Lee, Brendan ^{1, 2, 40, ∗}

Publikováno v: In The American Journal of Human Genetics 7 March 2019 104(3):422-438

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Autor: Pena, Loren D.M. ¹, Jiang, Yong-Hui ¹, Schoch, Kelly ¹, Spillmann, Rebecca C. ¹, Walley, Nicole ¹, Stong, Nicholas ², Rapisardo Horn, Sarah ³, Sullivan, Jennifer A. ¹, McConkie-Rosell, Allyn ¹, Kansagra, Sujay ⁴, Smith, Edward C. ⁴, El-Dairi, Mays ⁵, Bellet, Jane ⁶, Keels, Martha Ann ⁷, Jasien, Joan ⁴, Kranz, Peter G. ⁸, Noel, Richard ⁹, Nagaraj, Shashi K. ¹⁰, Lark, Robert K. ¹¹, Wechsler, Daniel S.G. ¹², del Gaudio, Daniela ¹³, Leung, Marco L. ¹³, Hendon, Laura G. ¹⁴, Parker, Collette C. ¹⁵, Jones, Kelly L. ¹⁶, Goldstein, David B. ², Shashi, Vandana ¹, Alejandro, Mercedes E., Bacino, Carlos A., Balasubramanyam, Ashok, Bostwick, Bret L., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Craigen, William J., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Hanchard, Neil A., Jain, Mahim, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Azamian, Mashid S., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Zhang, Jing, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Muzny, Donna M., Ward, Patricia A., Yang, Yaping, Jiang, Yong-hui, Walley, Nicole M., Beggs, Alan H., Briere, Lauren C., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Ramoni, Rachel B., Splinter, Kimberly, Bick, David P., Birch, Camille L., Boone, Braden E., Brown, Donna M., Dorset, Daniel C., Handley, Lori H., Jacob, Howard J., Jones, Angela L., Lazar, Jozef, Levy, Shawn E., Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Worthey, Elizabeth A., Dayal, Jyoti G., Eckstein, David J., Gould, Sarah E., Howerton, Ellen M., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., Urv, Tiina K., Wise, Anastasia L., Soldatos, Ariane G., Brush, Matthew, Gourdine, Jean-Philippe F., Haendel, Melissa, Koeller, David M., Kyle, Jennifer E., Metz, Thomas O., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Ashley, Euan A., Bernstein, Jonathan A., Dries, Annika M., Fisher, Paul G., Kohler, Jennefer N., Waggott, Daryl M., Wheeler, Matthew T., Zornio, Patricia A., Allard, Patrick, Barseghyan, Hayk, Dell'Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Dorrani, Naghmeh, Douine, Emilie D., Eskin, Ascia, Fogel, Brent L., Herzog, Matthew R., Lee, Hane, Lipson, Allen, Loo, Sandra K., Martínez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Zheng, Allison, Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Draper, David D., Estwick, Tyra, Frisby, Trevor S., Frost, Kate, Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Gordon, Mary G., Groden, Catherine A., Hackbarth, Mary E., Hardee, Isabel, Johnston, Jean M., Koehler, Alanna E., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Levy, Denise J., Liebendorfer, Adam P., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., McCarty, Alexandra J., Murphy, Jennifer L., Nehrebecky, Michele E., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Tolman, Nathanial J., Toro, Camilo, Valivullah, Zaheer M., Wahl, Colleen E., Warburton, Mike, Weech, Alec A., Yu, Guoyun, Gropman, Andrea L., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Lee, Paul R., Postlethwait, John H., Westerfield, Monte, Bican, Anna, Cogan, Joy D., Hamid, Rizwan, Newman, John H., Phillips, John A., III, Robertson, Amy K.

Publikováno v: In Genetics in Medicine April 2018 20(4):464-469

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Autor: Adams, Christopher J., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gould, Sarah E., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Hardee, Isabel, Herzog, Matthew R., Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koehler, Alanna E., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorfer, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McCarty, Alexandra J., McConkie-Rosell, Allyn, McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sadozai, Sarah, Schaffer, Katherine E., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Soldatos, Ariane G., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Valivullah, Zaheer M., Vilain, Eric, Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zornio, Patricia A., Wang, Julia ^{1, 2, 11}, Al-Ouran, Rami ^{3, 4, 11}, Hu, Yanhui ^{5, 11}, Kim, Seon-Young ^{3, 6, 11}, Wan, Ying-Wooi ^{3, 4, 7}, Chao, Hsiao-Tuan ^{3, 4, 8}, Comjean, Aram ⁵, Mohr, Stephanie E. ⁵, Perrimon, Norbert ^{5, 9}, Liu, Zhandong ^{3, 4, ∗}

Publikováno v: In The American Journal of Human Genetics 1 June 2017 100(6):843-853

Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food–based diets

Autor: Geiger, Katie E. ^a, Koeller, David M. ^{b, c}, Harding, Cary O. ^{b, c}, Huntington, Kathleen L. ^d, Gillingham, Melanie B. ^{a, b, ⁎}

Publikováno v: In Nutrition Research January 2016 36(1):101-108