IRF2BPL Is Associated with Neurological Phenotypes

Autor: Callens, Steven, Coucke, Paul, Dermaut, Bart, Hemelsoet, Dimitri, Poppe, Bruce, Steyaert, Wouter, Terryn, Wim, Van Coster, Rudy, Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Lipson, Allen, 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, Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, 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., Parker, Neil H., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zastrow, Diane B., Zheng, Allison, Marcogliese, Paul C., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Graham, John M., Jr., Ortiz, Damara, Infante, Elena, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Wangler, Michael F., Mirzaa, Ghayda, Lee, Brendan, Nelson, Stanley F., Bellen, Hugo J.

Publikováno v: In The American Journal of Human Genetics 2 August 2018 103(2):245-260

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, Al-Ouran, Rami, Hu, Yanhui, Kim, Seon-Young, Wan, Ying-Wooi, Chao, Hsiao-Tuan, Comjean, Aram, Mohr, Stephanie E., Perrimon, Norbert, Liu, Zhandong

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

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Autor: Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Lipson, Allen, 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, Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, 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., Parker, Neil H., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zastrow, Diane B., Zheng, Allison, Oláhová, Monika, Yoon, Wan Hee, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Kyle, Jennifer E., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Dries, Annika M., Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika M., Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Webb-Robertson, Bobbie-Jo M., Snyder, Michael, Merker, Jason D., Montgomery, Stephen B., Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Koeller, David M., Metz, Thomas O., Morris, Andrew A., Schelley, Susan, Cowan, Tina, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L.K., Enns, Gregory M., Ashley, Euan A., Wangler, Michael F., Taylor, Robert W., Bellen, Hugo J., Bernstein, Jonathan A., Wheeler, Matthew T.

Publikováno v: In The American Journal of Human Genetics 1 March 2018 102(3):494-504

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Autor: Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Strom, Samuel P., Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Szelinger, Szabolcs, Alejandro, Mercedes E., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., 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., Mashid, Azamian S., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Scott, Daryl A., Tran, Alyssa A., Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Muzny, Donna M., Ward, Patricia A., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Stong, Nicholas, Jiang, Yong-hui, McConkie-Rosell, Allyn, Pena, Loren D.M., Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Sullivan, Jennifer A., 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, Dan 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., Loomis, Carson R., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., 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, Matt T., Zornio, Patricia A., Allard, Patrick, Barseghyan, Hayk, Dell’Angelica, Esteban C., Dipple, Katrina M., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Sinsheimer, Janet S., 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 “Gracie” 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., Liebendorder, 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, 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, Hamid, Rizwan, Newman, John H., Phillips, John A., III, Robertson, Amy K., Cogan, Joy D., Meng, Linyan, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Xiao, Rui, Martinez-Agosto, Julian A., Lupski, James R.

Publikováno v: In The American Journal of Human Genetics 2 February 2017 100(2):343-351