Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
Lai, Dulcie, Gade, Meethila, Yang, Edward, Koh, Hyun Yong, Lu, Jinfeng, Walley, Nicole M, Buckley, Anne F, Sands, Tristan T, Akman, Cigdem I, Mikati, Mohamad A, McKhann, Guy M, Goldman, James E, Canoll, Peter, Alexander, Allyson L, Park, Kristen L, Von Allmen, Gretchen K, Rodziyevska, Olga, Bhattacharjee, Meenakshi B, Lidov, Hart G W, Vogel, Hannes, Grant, Gerald A, Porter, Brenda E, Poduri, Annapurna H, Crino, Peter B, Heinzen, Erin L
Published in Brain (London, England : 1878) (27.08.2022)
Published in Brain (London, England : 1878) (27.08.2022)
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Host Determinants of HIV-1 Control in African Americans
Pelak, Kimberly, Goldstein, David B., Walley, Nicole M., Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V., Gumbs, Curtis, Gao, Xiaojiang, Maia, Jessica M., Cronin, Kenneth D., Hussain, Shehnaz K., Carrington, Mary, Michael, Nelson L., Weintrob, Amy C.
Published in The Journal of infectious diseases (15.04.2010)
Published in The Journal of infectious diseases (15.04.2010)
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Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Ruzzo, Elizabeth K., Walley, Nicole M., Need, Anna C., Ge, Dongliang, He, Min, Cirulli, Elizabeth T., Zhao, Qian, Cronin, Kenneth D., Gumbs, Curtis E., Campbell, C. Ryan, Hong, Linda K., Maia, Jessica M., Shianna, Kevin V., McCormack, Mark, Radtke, Rodney A., O'Conner, Gerard D., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Sinha, Saurabh R., Chinthapalli, Krishna, Puranam, Ram S., McNamara, James O., Ottman, Ruth, Sisodiya, Sanjay M., Delanty, Norman, Goldstein, David B.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy
Cavalleri, Gianpiero L., Walley, Nicole M., Soranzo, Nicole, Mulley, John, Doherty, Colin P., Kapoor, Ashish, Depondt, Chantal, Lynch, John M., Scheffer, Ingrid E., Heils, Armin, Gehrmann, Anne, Kinirons, Peter, Gandhi, Sonia, Satishchandra, Parthasarathy, Wood, Nicholas W., Anand, Anuranjan, Sander, Thomas, Berkovic, Samuel F., Delanty, Norman, Goldstein, David B., Sisodiya, Sanjay M.
Published in Epilepsia (Copenhagen) (01.04.2007)
Published in Epilepsia (Copenhagen) (01.04.2007)
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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Panagiotakaki, Eleni, Tiziano, Francesco D, Mikati, Mohamad A, Vijfhuizen, Lisanne S, Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, Harder, Aster V E, Walley, Nicole M, De Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lépine, Anne, Nassogne, Marie-Cecile, Arzimanoglou, Alexis, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher H, George, Jr, Alfred L, Gurrieri, Fiorella, van den Maagdenberg, Arn M J M, Heinzen, Erin L
Published in European journal of human genetics : EJHG (01.02.2024)
Published in European journal of human genetics : EJHG (01.02.2024)
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Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis
Griffin, Nicole G., Wang, Yu, Hulette, Christine M., Halvorsen, Matt, Cronin, Kenneth D., Walley, Nicole M., Haglund, Michael M., Radtke, Rodney A., Skene, J. H. Pate, Sinha, Saurabh R., Heinzen, Erin L.
Published in Epilepsia (Copenhagen) (01.03.2016)
Published in Epilepsia (Copenhagen) (01.03.2016)
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Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly
Griffin, Nicole G, Cronin, Kenneth D, Walley, Nicole M, Hulette, Christine M, Grant, Gerald A, Mikati, Mohamad A, LaBreche, Heather G, Rehder, Catherine W, Allen, Andrew S, Crino, Peter B, Heinzen, Erin L
Published in Cold Spring Harbor molecular case studies (01.09.2017)
Published in Cold Spring Harbor molecular case studies (01.09.2017)
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The Duffy antigen receptor for chemokines null promoter variant does not influence HIV-1 acquisition or disease progression
Walley, Nicole M, Julg, Boris, Dickson, Samuel P, Fellay, Jacques, Ge, Dongliang, Walker, Bruce D, Carrington, Mary, Cohen, Myron S, de Bakker, Paul I W, Goldstein, David B, Shianna, Kevin V, Haynes, Barton F, Letvin, Norman L, McMichael, Andrew J, Michael, Nelson L, Weintrob, Amy C
Published in Cell host & microbe (08.05.2009)
Published in Cell host & microbe (08.05.2009)
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina G.S, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A
Published in The New England journal of medicine (29.11.2018)
Published in The New England journal of medicine (29.11.2018)
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
HEINZEN, Erin L, SWOBODA, Kathryn J, PANAGIOTAKAKI, Eleni, FIORI, Stefania, ABIUSI, Emanuela, DI PIETRO, Lorena, SWENEY, Matthew T, NEWCOMB, Tara M, VIOLLET, Louis, HUFF, Chad, JORDE, Lynn B, REYNA, Sandra P, HITOMI, Yuki, MURPHY, Kelley J, SHIANNA, Kevin V, GUMBS, Curtis E, LITTLE, Latasha, SILVER, Kenneth, PTACEK, Louis J, HAAN, Joost, FERRARI, Michel D, BYE, Ann M, HERKES, Geoffrey K, GURRIERI, Fiorella, WHITELAW, Charlotte M, WEBB, David, LYNCH, Bryan J, ULDALL, Peter, KING, Mary D, SCHEFFER, Ingrid E, NERI, Giovanni, ARZIMANOGLOU, Alexis, VAN DEN MAAGDENBERG, Arn M. J. M, SISODIYA, Sanjay M, NICOLE, Sophie, MIKATI, Mohamad A, GOLDSTEIN, David B, DE VRIES, Boukje, TIZIANO, F. Danilo, FONTAINE, Bertrand, WALLEY, Nicole M, HEAVIN, Sinead
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Davids, Mariska, Pappas, John G., Rosenfeld, Jill A., McCarty, Alexandra J., Tifft, Cynthia, Stong, Nicholas, Johnson, Travis K., Warr, Coral G., Adams, Christopher J., Alejandro, Mercedes E., Ashley, Euan A., Barseghyan, Hayk, Beggs, Alan H., Bernstein, Jonathan A., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Golas, Gretchen A., Gould, Sarah E., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hanchard, Neil A., Herzog, Matthew R., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Jones, Angela L., Koehler, Alanna E., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Levy, Denise J., Liebendorder, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Macnamara, Ellen F., MacRae, Calum A., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Mazur, Paul, McCarty, Alexandra J., McCray, Alexa T., Metz, Thomas O., Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Pallais, J. Carl, Palmer, Christina G.S., Pena, Loren D.M., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Soldatos, Ariane G., Splinter, Kimberly, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tift, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Vilain, Eric, Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matt T., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Yamamoto, Shinya, Malicdan, May Christine V.
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Rael, Victoria E, Yano, Julian A, Huizar, John P, Slayden, Leianna C, Weiss, Madeleine A, Turcotte, Elizabeth A, Terry, Jacob M, Zuo, Wenqi, Thiffault, Isabelle, Pastinen, Tomi, Farrow, Emily G, Jenkins, Janda L, Becker, Mara L, Wong, Stephen C, Stevens, Anne M, Otten, Catherine, Allenspach, Eric J, Bonner, Devon E, Bernstein, Jonathan A, Wheeler, Matthew T, Saxton, Robert A, Liu, Bo, Majer, Olivia, Barton, Gregory M
Published in The Journal of experimental medicine (05.08.2024)
Published in The Journal of experimental medicine (05.08.2024)
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The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones
Mulvihill, John J., Findley, Laura, Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Al-Beshri, Ali, Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bonner, Devon, Botto, Lorenzo, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Dai, Hongzheng, Davis, Joie, Delgado, Margaret, Earl, Dawn, Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Gonzalez, Joanna M., Gropman, Andrea, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Hurst, Anna, Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean, Jobanputra, Vaidehi, Karasozen, Yigit, Kilich, Gonench, Kobren, Shilpa N., Korf, Bruce, Krakow, Deborah, Kravets, Elijah, Lam, Christina, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Maghiro, Audrey Stephannie, Mao, Rong, Marth, Gabor, McConkie-Rosell, Allyn, McCray, Alexa T., Mikati, Mohamad, Morimoto, Marie, Mulvihill, John J., Novacic, Donna, Oglesbee, Devin, Parker, Neil H., Petcharet, Leoyklang, Posey, Jennifer E., Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Robertson, Amy K., Rodriguez, Martin, Rosenfeld, Jill A., Ruzhnikov, Maura, Sabaii, Marla, Schedl, Timothy, Seto, Elaine, Shelkowitz, Emily, Sisco, Kathy, Skelton, Tammi, Smith, Carson A., Solnica-Krezel, Lilianna, Sullivan, Kathleen, Sybert, Virginia, Tan, Amelia L.M., Taylor, Herman, Thorson, Willa, Tran, Alyssa A., Vanderver, Adeline, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wangler, Michael F., Ward, Patricia A., Wheeler, Matthew T., Wolfe, Lynne A., Yamamoto, Shinya, Zhang, Zhe
Published in Genetics in medicine (01.10.2024)
Published in Genetics in medicine (01.10.2024)
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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
Atala, Kristhen, Dutta, Debdeep, Khanshour, Anas, Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Ketkar, Shamika, Posey, Jennifer E., Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tran, Alyssa A., Hubshman, Monika Weisz, Kanca, Oguz, Eng, Christine M., Falk, Marni, Hassey, Kelly, Zhang, Zhe, Mikati, Mohamad, Beggs, Alan H., Berry, Gerard T., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Sweetser, David A., Glanton, Emily, Maghiro, Audrey Stephannie C., McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Tekin, Mustafa, Zuchner, Stephan, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Novacic, Donna, Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Fu, Jiayu, Wood, Heidi, Allworth, Aimee, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Lam, Christina, Mirzaa, Ghayda, Raskind, Wendy, Alvarez, Raquel L., Bejerano, Gill, Bonner, Devon, Fisher, Paul G., Kohler, Jennefer N., Kravets, Elijah, Marwaha, Shruti, Ruzhnikov, Maura, Sutton, Shirley, Ungar, Rachel A., Crouse, Andrew B., Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Fogel, Brent L., McGee, Elisabeth, Nieves-Rodriguez, Shirley, Alvey, Justin, Bohnsack, John, Moretti, Paolo, Quinlan, Aaron, Marth, Gabor, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Wegner, Daniel, Cole, F. Sessions, Schedl, Timothy, Wangler, Michael F., Bellen, Hugo J.
Published in Genetics in medicine (01.09.2024)
Published in Genetics in medicine (01.09.2024)
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Pena, Loren D.M., Hempel, Maja, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Shuss, Christine M., Burrage, Lindsay C., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Lalani, Seema R., Lewis, Richard A., Posey, Jennifer E., Hanchard, Neil A., Mercedes, Alejandro E., Wangler, Michael F., Muzny, Donna M., Ward, Patricia A., Ramoni, Rachel B., McCray, Alexa T., Mazur, Paul, Splinter, Kimberly, Esteves, Cecilia, Jiang, Yong-hui, Pena, Loren D.M., McConkie-Rosell, Allyn, Schoch, Kelly, Spillmann, Rebecca C., Goldstein, David B., Loscalzo, Joseph, Rodan, Lance H., Walsh, Chris A., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Lincoln, Sharyn A., Worthey, Elizabeth A., Lazar, Joe, Handley, Lori H., Newberry, J. Scott, Schroeder, Molly C., Brown, Donna M., Levy, Shawn E., Dorset, Dan C., Jones, Angela L., Manolio, Teri A., Wise, Anastasia L., Eckstein, David J., Krasnewich, Donna M., Loomis, Carson R., Iglesias, Brenda, Martin, Casey, Koeller, David M., Ashley, Euan A., Zornio, Patricia A., Nelson, Stan F., Palmer, Christina G.S., Allard, Patrick, Dell Angelica, Esteban C., Lee, Hane, Papp, Jeanette C., Dorrani, Naghmeh, Draper, David D., Estwick, Tyra, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Johnston, Jean M., Latham, Lea, Macnamara, Ellen F., Maduro, Valerie V., Malicdan, May V., McCarty, Alexandra J., Murphy, Jennifer L., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Soldatos, Ariane G., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Wahl, Colleen E., Weech, Alec A., Yu, Guoyun, Hamid, Rizwan, Bellet, Jane S., Keels, Martha Ann, El-Dairi, Maysantoine, Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Kurki, Mitja I., Hoischen, Alexander, Goldstein, David B.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant
Stellacci, Emilia, Stevenson, David, Moslehi, Dorsa, Adams, David R., Afzali, Ben, Allworth, Aimee, Alvey, Justin, Ashley, Euan A., Bacino, Carlos A., Baldwin, Erin, Bale, Jim, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bernstein, Jonathan A., Blue, Elizabeth, Burke, Elizabeth A., Burrage, Lindsay C., Byrd, William E., Carey, John, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Corona, Rosario I., Cuddapah, Vishnu, D'Souza, Precilla, Dasari, Surendra, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Esteves, Cecilia, Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Gonzalez, Joanna M., Gropman, Andrea, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Horike‐Pyne, Martha, Hurst, Anna, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Kanca, Oguz, Kiley, Dana, Korf, Bruce, Krakow, Deborah, Lam, Christina, Lee, Brendan H., Leppig, Kathleen A., Longo, Nicola, Macnamara, Ellen F., Mao, Rong, Marth, Gabor, Martínez‐Agosto, Julian A., McConkie‐Rosell, Allyn, McMinn, Ashley, Mikati, Mohamad, Mitchell, Breanna, Morimoto, Marie, Mulvihill, John J., Orengo, James P., Petcharet, Leoyklang, Phillips, John A., Swerdzewski, Barbara N. Pusey, Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Rosenthal, Elizabeth, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Seto, Elaine, Shashi, Vandana, Sheppeard, Sam, Sirugo, Giorgio, Smith, Carson A., Solomon, Ben, Sullivan, Kathleen, Sybert, Virginia, Taylor, Herman, Tekin, Mustafa, Toro, Camilo, Ungar, Rachel A., Wahl, Colleen E., Walker, Melissa, Wegner, Daniel, Hubshman, Monika Weisz, Wheeler, Matthew T., Bernstein, Jonathan A.
Published in American journal of medical genetics. Part A (01.08.2024)
Published in American journal of medical genetics. Part A (01.08.2024)
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Journal Article
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Kumar, Akash, Zastrow, Diane B., Kravets, Elijah J., Beleford, Daniah, Ruzhnikov, Maura R. Z., Grove, Megan E., Dries, Annika M., Kohler, Jennefer N., Waggott, Daryl M., Yang, Yaping, Huang, Yong, Mackenzie, Katherine M., Eng, Christine M., Fisher, Paul G., Ashley, Euan A., Teng, Joyce M., Stevenson, David A., Shieh, Joseph T., Wheeler, Matthew T., Bernstein, Jonathan A.
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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Journal Article
Characteristics of undiagnosed diseases network applicants: implications for referring providers
Walley, Nicole M, Pena, Loren D M, Hooper, Stephen R, Cope, Heidi, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Sanders, Camilla, Schoch, Kelly, Spillmann, Rebecca C, Strong, Kimberly, McCray, Alexa T, Mazur, Paul, Esteves, Cecilia, LeBlanc, Kimberly, Wise, Anastasia L, Shashi, Vandana
Published in BMC health services research (22.08.2018)
Published in BMC health services research (22.08.2018)
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Journal Article
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Oláhová, Monika, Yoon, Wan Hee, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Huang, Yong, Contrepois, Kévin, Waggott, Daryl, Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Snyder, Michael, Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Simpson, Michael A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L. K., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A., Adams, David R., Alejandro, Mercedes E., Bacino, Carlos A., Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Brush, Matthew, Burrage, Lindsay C., Cooper, Cynthia M., D’Souza, Precilla, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Draper, David D., Eng, Christine M., Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Hanchard, Neil A., Herzog, Matthew R., Jain, Mahim, Kohane, Isaac S., Krieg, Elizabeth L., Krier, Joel B., Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Loo, Sandra K., Loscalzo, Joseph, MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Manolio, Teri A., Marwaha, Shruti, May, Thomas, McCray, Alexa T., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Nelson, Stan F., Newberry, J. Scott, Novacic, Donna, Pallais, J. Carl, Palmer, Christina G. S., Parker, Neil H., Phillips, III, John A., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Sharma, Prashant, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Vogel, Tiphanie P., Walley, Nicole M., Walsh, Chris A.
Published in American journal of human genetics (01.03.2018)
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Published in American journal of human genetics (01.03.2018)
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