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248 results on '"Thompson, Michelle L."'

1. Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Author

Willim, Jana, Woike, Daniel, Greene, Daniel, Das, Sarada, Pfeifer, Kevin, Yuan, Weimin, Lindsey, Anika, Itani, Omar, Böhme, Amber L., Tibbe, Debora, Hönck, Hans-Hinrich, Hassani Nia, Fatemeh, Zech, Michael, Brunet, Theresa, Faivre, Laurence, Sorlin, Arthur, Vitobello, Antonio, Smol, Thomas, Colson, Cindy, Baranano, Kristin, Schatz, Krista, Bayat, Allan, Schoch, Kelly, Spillmann, Rebecca, Davis, Erica E., Conboy, Erin, Vetrini, Francesco, Platzer, Konrad, Neuser, Sonja, Gburek-Augustat, Janina, Grace, Alexandra Noel, Mitchell, Bailey, Stegmann, Alexander, Sinnema, Margje, Meeks, Naomi, Saunders, Carol, Cadieux-Dion, Maxime, Hoyer, Juliane, Van-Gils, Julien, de Sainte-Agathe, Jean-Madeleine, Thompson, Michelle L., Bebin, E. Martina, Weisz-Hubshman, Monika, Tabet, Anne-Claude, Verloes, Alain, Levy, Jonathan, Latypova, Xenia, Harder, Sönke, Silverman, Gary A., Pak, Stephen C., Schedl, Tim, Freson, Kathleen, Mumford, Andrew, Turro, Ernest, Schlein, Christian, Shashi, Vandana, and Kreienkamp, Hans-Jürgen

Published
2024
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2. Bird tolerance to humans in open tropical ecosystems

Author

Mikula, Peter, Tomášek, Oldřich, Romportl, Dušan, Aikins, Timothy K, Avendaño, Jorge E, Braimoh-Azaki, Bukola DA, Chaskda, Adams, Cresswell, Will, Cunningham, Susan J, Dale, Svein, Favoretto, Gabriela R, Floyd, Kelvin S, Glover, Hayley, Grim, Tomáš, Henry, Dominic AW, Holmern, Tomas, Hromada, Martin, Iwajomo, Soladoye B, Lilleyman, Amanda, Magige, Flora J, Martin, Rowan O, de A. Maximiano, Marina F, Nana, Eric D, Ncube, Emmanuel, Ndaimani, Henry, Nelson, Emma, van Niekerk, Johann H, Pienaar, Carina, Piratelli, Augusto J, Pistorius, Penny, Radkovic, Anna, Reynolds, Chevonne, Røskaft, Eivin, Shanungu, Griffin K, Siqueira, Paulo R, Tarakini, Tawanda, Tejeiro-Mahecha, Nattaly, Thompson, Michelle L, Wamiti, Wanyoike, Wilson, Mark, Tye, Donovan RC, Tye, Nicholas D, Vehtari, Aki, Tryjanowski, Piotr, Weston, Michael A, Blumstein, Daniel T, and Albrecht, Tomáš

Subjects
Animals, Humans, Animals, Wild, Australia, Birds, Ecosystem, Urban Population, Africa, South America, Human-Animal Interaction, Rural Population, Behavior, Animal, Tropical Climate
Abstract

Animal tolerance towards humans can be a key factor facilitating wildlife-human coexistence, yet traits predicting its direction and magnitude across tropical animals are poorly known. Using 10,249 observations for 842 bird species inhabiting open tropical ecosystems in Africa, South America, and Australia, we find that avian tolerance towards humans was lower (i.e., escape distance was longer) in rural rather than urban populations and in populations exposed to lower human disturbance (measured as human footprint index). In addition, larger species and species with larger clutches and enhanced flight ability are less tolerant to human approaches and escape distances increase when birds were approached during the wet season compared to the dry season and from longer starting distances. Identification of key factors affecting animal tolerance towards humans across large spatial and taxonomic scales may help us to better understand and predict the patterns of species distributions in the Anthropocene.

Published
2023

4. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Author

Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., and Akizu, Naiara

Published
2023
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5. Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

Author

Felker, Stephanie A., Lawlor, James M.J., Hiatt, Susan M., Thompson, Michelle L., Latner, Donald R., Finnila, Candice R., Bowling, Kevin M., Bonnstetter, Zachary T., Bonini, Katherine E., Kelly, Nicole R., Kelley, Whitley V., Hurst, Anna C.E., Rashid, Salman, Kelly, Melissa A., Nakouzi, Ghunwa, Hendon, Laura G., Bebin, E. Martina, Kenny, Eimear E., and Cooper, Gregory M.

Published
2023
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6. De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy

Author

von Wintzingerode, Lydia, Ben-Zeev, Bruria, Cesario, Claudia, Chan, Katie M., Depienne, Christel, Elpeleg, Orly, Iascone, Maria, Kelley, Whitley V., Nassogne, Marie-Cécile, Niceta, Marcello, Pezzani, Lidia, Rahner, Nils, Revencu, Nicole, Bekheirnia, Mir Reza, Santiago-Sim, Teresa, Tartaglia, Marco, Thompson, Michelle L., Trivisano, Marina, Hentschel, Julia, Sticht, Heinrich, Abou Jamra, Rami, and Oppermann, Henry

Published
2023
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7. Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases

Author

Cochran, J Nicholas, Geier, Ethan G, Bonham, Luke W, Newberry, J Scott, Amaral, Michelle D, Thompson, Michelle L, Lasseigne, Brittany N, Karydas, Anna M, Roberson, Erik D, Cooper, Gregory M, Rabinovici, Gil D, Miller, Bruce L, Myers, Richard M, Yokoyama, Jennifer S, and Initiative, Alzheimer’s Disease Neuroimaging

Subjects
Genetics, Aging, Alzheimer's Disease, Prevention, Neurodegenerative, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Brain Disorders, Neurosciences, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Neurological, Aged, Aged, 80 and over, Alzheimer Disease, Animals, Cognition, DNA-Binding Proteins, Dioxygenases, Female, Frontotemporal Dementia, Humans, Loss of Function Mutation, Male, Mice, Neurodegenerative Diseases, Proto-Oncogene Proteins, Alzheimer’s Disease Neuroimaging Initiative, AD, ALS, Alzheimer, FTD, TET2, aging, amyotrophic lateral sclerosis, frontotemporal dementia, genome sequencing, non-coding, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

We conducted genome sequencing to search for rare variation contributing to early-onset Alzheimer's disease (EOAD) and frontotemporal dementia (FTD). Discovery analysis was conducted on 435 cases and 671 controls of European ancestry. Burden testing for rare variation associated with disease was conducted using filters based on variant rarity (less than one in 10,000 or private), computational prediction of deleteriousness (CADD) (10 or 15 thresholds), and molecular function (protein loss-of-function [LoF] only, coding alteration only, or coding plus non-coding variants in experimentally predicted regulatory regions). Replication analysis was conducted on 16,434 independent cases and 15,587 independent controls. Rare variants in TET2 were enriched in the discovery combined EOAD and FTD cohort (p = 4.6 × 10-8, genome-wide corrected p = 0.0026). Most of these variants were canonical LoF or non-coding in predicted regulatory regions. This enrichment replicated across several cohorts of Alzheimer's disease (AD) and FTD (replication only p = 0.0029). The combined analysis odds ratio was 2.3 (95% confidence interval [CI] 1.6-3.4) for AD and FTD. The odds ratio for qualifying non-coding variants considered independently from coding variants was 3.7 (95% CI 1.7-9.4). For LoF variants, the combined odds ratio (for AD, FTD, and amyotrophic lateral sclerosis, which shares clinicopathological overlap with FTD) was 3.1 (95% CI 1.9-5.2). TET2 catalyzes DNA demethylation. Given well-defined changes in DNA methylation that occur during aging, rare variation in TET2 may confer risk for neurodegeneration by altering the homeostasis of key aging-related processes. Additionally, our study emphasizes the relevance of non-coding variation in genetic studies of complex disease.

Published
2020

8. Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Author

Cochran, J Nicholas, McKinley, Emily C, Cochran, Meagan, Amaral, Michelle D, Moyers, Bryan A, Lasseigne, Brittany N, Gray, David E, Lawlor, James MJ, Prokop, Jeremy W, Geier, Ethan G, Holt, James M, Thompson, Michelle L, Newberry, J Scott, Yokoyama, Jennifer S, Worthey, Elizabeth A, Geldmacher, David S, Love, Marissa Natelson, Cooper, Gregory M, Myers, Richard M, and Roberson, Erik D

Subjects
Humans, Dementia, Alzheimer Disease, Genetic Predisposition to Disease, Odds Ratio, Risk Factors, Chromosome Mapping, Base Sequence, Penetrance, Alleles, Aged, Middle Aged, Female, Male, Apolipoprotein E4, Genetic Variation, Genome-Wide Association Study, Genetic Association Studies, Whole Genome Sequencing, C9orf72 Protein, Alzheimer disease, frontotemporal dementia
Abstract

We assessed the results of genome sequencing for early-onset dementia. Participants were selected from a memory disorders clinic. Genome sequencing was performed along with C9orf72 repeat expansion testing. All returned sequencing results were Sanger-validated. Prior clinical diagnoses included Alzheimer's disease, frontotemporal dementia, and unspecified dementia. The mean age of onset was 54 (41-76). Fifty percent of patients had a strong family history, 37.5% had some, and 12.5% had no known family history. Nine of 32 patients (28%) had a variant defined as pathogenic or likely pathogenic (P/LP) by American College of Medical Genetics and Genomics standards, including variants in APP, C9orf72, CSF1R, and MAPT Nine patients (including three with P/LP variants) harbored established risk alleles with moderate penetrance (odds ratios of ∼2-5) in ABCA7, AKAP9, GBA, PLD3, SORL1, and TREM2 All six patients harboring these moderate penetrance variants but not P/LP variants also had one or two APOE ε4 alleles. One patient had two APOE ε4 alleles with no other established contributors. In total, 16 patients (50%) harbored one or more genetic variants likely to explain symptoms. We identified variants of uncertain significance (VUSs) in ABI3, ADAM10, ARSA, GRID2IP, MME, NOTCH3, PLCD1, PSEN1, TM2D3, TNK1, TTC3, and VPS13C, also often along with other variants. In summary, genome sequencing for early-onset dementia frequently identified multiple established or possible contributory alleles. These observations add support for an oligogenic model for early-onset dementia.

Published
2019

9. P2-126: LOSS-OF-FUNCTION CODING AND NON-CODING VARIANTS IN TET2 ARE ASSOCIATED WITH NEURODEGENERATIVE DISEASES

Author

Cochran, J Nicholas, Geier, Ethan G, Acosta-Uribe, Juliana, Thompson, Michelle L, Amaral, Michelle D, Newberry, J Scott, Lawlor, James MJ, Lasseigne, Brittany N, Cochran, Meagan E, Bonham, Luke W, Karydas, Anna M, Roberson, Erik D, Lopera, Francisco, Kosik, Kenneth S, Cooper, Gregory M, Rabinovici, Gil D, Miller, Bruce L, Myers, Richard M, and Yokoyama, Jennifer S

Subjects
Clinical Sciences, Neurosciences, Geriatrics
Published
2019

11. Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

Author

Hiatt, Susan M, primary, Lawlor, James MJ, additional, Handley, Lori H, additional, Latner, Donald R, additional, Bonnstetter, Zachary T, additional, Finnila, Candice R, additional, Thompson, Michelle L, additional, Boston, Lori Beth, additional, Williams, Melissa, additional, Rodriguez Nunez, Ivan, additional, Jenkins, Jerry, additional, Kelley, Whitley V, additional, Bebin, E Martina, additional, Lopez, Michael A, additional, Hurst, Anna CE, additional, Korf, Bruce R, additional, Schmutz, Jeremy, additional, Grimwood, Jane, additional, and Cooper, Gregory M, additional

Published
2024
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12. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Published
2024

13. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Abstract

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.

Published
2024

14. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Author

Ha, Thoa, Morgan, Angela, Bartos, Meghan N., Beatty, Katelyn, Cogné, Benjamin, Braun, Dominique, Gerber, Céline B., Gaspar, Harald, Kopps, Anna M., Rieubland, Claudine, Hurst, Anna C. E., Amor, David J., Nizon, Mathilde, Pasquier, Laurent, Pfundt, Rolph, Reis, André, Siu, Victoria Mok, Tessarech, Marine, Thompson, Michelle L., and Vincent, Marie

Abstract

The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain and AMP‐binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in vertebrates, Disco‐interacting protein 2 homolog A (DIP2A), Disco‐interacting protein 2 homolog B (DIP2B), and Disco‐interacting protein 2 homolog C (DIP2C), are highly conserved and expressed widely in the central nervous system. Although there is evidence that DIP2C plays a role in cognition, reports of pathogenic variants in these genes are rare and their significance is uncertain. We present 23 individuals with heterozygous DIP2C variants, all manifesting developmental delays that primarily affect expressive language and speech articulation. Eight patients had de novo variants predicting loss‐of‐function in the DIP2C gene, two patients had de novo missense variants, three had paternally inherited loss of function variants and six had maternally inherited loss‐of‐function variants, while inheritance was unknown for four variants. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects, and bicuspid aortic valve). Minor facial anomalies were inconsistent but included a high anterior hairline with a long forehead, broad nasal tip, and ear anomalies. Brainspan analysis showed elevated DIP2C expression in the human neocortex at 10–24 weeks after conception. With the cases presented herein, we provide phenotypic and genotypic data supporting the association between loss‐of‐function variants in DIP2C with a neurocognitive phenotype. [ABSTRACT FROM AUTHOR]

Published
2024
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16. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Author

Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, and Bhoj, Elizabeth

Published
2020
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17. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

Author

Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Le Caignec, Cédric, Gérard, Marion, Dieterich, Klaus, Truitt Cho, Megan, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, and Isidor, Bertrand

Published
2019
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18. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, primary, Wang, Qin, additional, Bayat, Allan, additional, Battig, Mark R., additional, Zhou, Yijing, additional, Bosch, Daniëlle G.M., additional, van Haaften, Gijs, additional, Granger, Leslie, additional, Petersen, Andrea K., additional, Pérez-Jurado, Luis A., additional, Aznar-Laín, Gemma, additional, Aneja, Anushree, additional, Hancarova, Miroslava, additional, Bendova, Sarka, additional, Schwarz, Martin, additional, Kremlíková Pourová, Radka, additional, Sedlacek, Zdenek, additional, Keena, Beth A., additional, March, Michael E., additional, Hou, Cuiping, additional, O'Connor, Nora, additional, Bhoj, Elizabeth J., additional, Harr, Margaret H., additional, Lemire, Gabrielle, additional, Boycott, Kym M., additional, Towne, Meghan C., additional, Li, Megan, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Parker, Michael J., additional, Faghfoury, Hanna, additional, Parsley, Lea Kristin, additional, Agolini, Emanuele, additional, Dentici, Maria Lisa, additional, Novelli, Antonio, additional, Wright, Meredith S., additional, Palmquist, Rachel, additional, Lai, Khanh, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Iacomino, Michele, additional, Zara, Federico, additional, Cooper, Annina, additional, Maarup, Timothy J., additional, Byler, Melissa, additional, Lebel, Robert Roger, additional, Balci, Tugce B., additional, Louie, Raymond J., additional, Lyons, Michael J., additional, Douglas, Jessica, additional, Nowak, Catherine B., additional, Afenjar, Alexandra, additional, Hoyer, Juliane, additional, Keren, Boris, additional, Maas, Saskia M., additional, Motazacker, Mahdi M., additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, McCormick, Elizabeth M., additional, Falk, Marni, additional, Ruggiero, Sarah M., additional, Helbig, Ingo, additional, Møller, Rikke S., additional, Tessarollo, Lino, additional, Tomassoni-Ardori, Francesco, additional, Palko, Mary Ellen, additional, Hsieh, Tzung-Chien, additional, Krawitz, Peter M., additional, Ganapathi, Mythily, additional, Gelb, Bruce D., additional, Jobanputra, Vaidehi, additional, Wilson, Ashley, additional, Greally, John, additional, Jacquemont, Sébastien, additional, Jizi, Khadijé, additional, Ange-Line, Bruel, additional, Quelin, Chloé, additional, Misra, Vinod K., additional, Chick, Erika, additional, Romano, Corrado, additional, Greco, Donatella, additional, Arena, Alessia, additional, Morleo, Manuela, additional, Nigro, Vincenzo, additional, Seyama, Rie, additional, Uchiyama, Yuri, additional, Matsumoto, Naomichi, additional, Taira, Ryoji, additional, Tashiro, Katsuya, additional, Sakai, Yasunari, additional, Yigit, Gökhan, additional, Wollnik, Bernd, additional, Wagner, Michael, additional, Kutsche, Barbara, additional, Hurst, Anna C.E., additional, Thompson, Michelle L., additional, Schmidt, Ryan J., additional, Randolph, Linda M., additional, Spillmann, Rebecca C., additional, Shashi, Vandana, additional, Higginbotham, Edward J., additional, Cordeiro, Dawn, additional, Carnevale, Amanda, additional, Costain, Gregory, additional, Khan, Tayyaba, additional, Funalot, Benoît, additional, Tran Mau-Them, Frederic, additional, Fernandez Garcia Moya, Luis, additional, García-Miñaúr, Sixto, additional, Osmond, Matthew, additional, Chad, Lauren, additional, Quercia, Nada, additional, Carrasco, Diana, additional, Li, Chumei, additional, Sanchez-Valle, Amarilis, additional, Kelley, Meghan, additional, Nizon, Mathilde, additional, Jensson, Brynjar O., additional, Sulem, Patrick, additional, Stefansson, Kari, additional, Gorokhova, Svetlana, additional, Busa, Tiffany, additional, Rio, Marlène, additional, Hadj Abdallah, Hamza, additional, Lesieur-Sebellin, Marion, additional, Amiel, Jeanne, additional, Pingault, Véronique, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Philippe, Christophe, additional, Fatus-Fauconnier, Clemence, additional, Friend, Kathryn, additional, Halligan, Rebecca K., additional, Biswas, Sunita, additional, Rosser, Jane M.R., additional, Shoubridge, Cheryl, additional, Corbett, Mark A., additional, Barnett, Christopher, additional, Gecz, Jozef, additional, Leppig, Kathleen A., additional, Slavotinek, Anne, additional, Marcelis, Carlo, additional, Pfundt, Rolph, additional, de Vries, Bert B.A., additional, van Slegtenhorst, Marjon A., additional, Brooks, Alice S., additional, Cogne, Benjamin, additional, Rambaud, Thomas, additional, Tümer, Zeynep, additional, Zackai, Elaine H., additional, Akizu, Naiara, additional, Song, Yuanquan, additional, and Hakonarson, Hakon, additional

Published
2023
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20. Contributors

Author

Berg, Jonathan S., primary, Bertier, Gabrielle, additional, Bowling, Kevin M., additional, Brothers, Kyle B., additional, Buchanan, James, additional, Buyx, Alena, additional, Bylstra, Yasmin, additional, De Clercq, Eva, additional, Cooper, Gregory M., additional, Erdmann†, Pia, additional, Foreman, Ann Katherine Major, additional, Gaff, Clara, additional, Jackson, Leigh, additional, Kato, Kazuto, additional, Kaufmann, Elke, additional, Kelly, Susan, additional, Knoppers, Bartha Maria, additional, Langanke, Martin, additional, Lázaro-Muñoz, Gabriel, additional, Leitsalu, Liis, additional, Liedtke, Wenke, additional, Mertz, Marcel, additional, Milani, Lili, additional, Morrison, Michael, additional, Richter, Gesine, additional, Schaefer, G. Owen, additional, Schickhardt, Christoph, additional, Schleidgen, Sebastian, additional, Shabani, Mahsa, additional, Teare, Harriet, additional, Thompson, Michelle L., additional, Thorogood, Adrian, additional, Tutty, Erin, additional, Williams, Janet L., additional, Winkler, Eva C., additional, Wordsworth, Sarah, additional, and Zawati, Ma’n, additional

Published
2020
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21. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Author

Hart, M. Ragan, Biesecker, Barbara B., Blout, Carrie L., Christensen, Kurt D., Amendola, Laura M., Bergstrom, Katie L., Biswas, Sawona, Bowling, Kevin M., Brothers, Kyle B., Conlin, Laura K., Cooper, Greg M., Dulik, Matthew C., East, Kelly M., Everett, Jessica N., Finnila, Candice R., Ghazani, Arezou A., Gilmore, Marian J., Goddard, Katrina A. B, Jarvik, Gail P., Johnston, Jennifer J., Kauffman, Tia L., Kelley, Whitley V., Krier, Joel B., Lewis, Katie L., McGuire, Amy L., McMullen, Carmit, Ou, Jeffrey, Plon, Sharon E., Rehm, Heidi L., Richards, C. Sue, Romasko, Edward J., Miren Sagardia, Ane, Spinner, Nancy B., Thompson, Michelle L., Turbitt, Erin, Vassy, Jason L., Wilfond, Benjamin S., Veenstra, David L., Berg, Jonathan S., Green, Robert C., Biesecker, Leslie G., and Hindorff, Lucia A.

Published
2019
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23. Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Author

Lemke, Amy A., primary, Thompson, Michelle L., additional, Gimpel, Emily C., additional, McNamara, Katelyn C., additional, Rich, Carla A., additional, Finnila, Candice R., additional, Cochran, Meagan E., additional, Lawlor, James M. J., additional, East, Kelly M., additional, Bowling, Kevin M., additional, Latner, Donald R., additional, Hiatt, Susan M., additional, Amaral, Michelle D., additional, Kelley, Whitley V., additional, Greve, Veronica, additional, Gray, David E., additional, Felker, Stephanie A., additional, Meddaugh, Hannah, additional, Cannon, Ashley, additional, Luedecke, Amanda, additional, Jackson, Kelly E., additional, Hendon, Laura G., additional, Janani, Hillary M., additional, Johnston, Marla, additional, Merin, Lee Ann, additional, Deans, Sarah L., additional, Tuura, Carly, additional, Hughes, Trent, additional, Williams, Heather, additional, Laborde, Kelly, additional, Neu, Matthew B., additional, Patrick-Esteve, Jessica, additional, Hurst, Anna C. E., additional, Kirmse, Brian M., additional, Savich, Renate, additional, Spedale, Steven B., additional, Knight, Sara J., additional, Barsh, Gregory S., additional, Korf, Bruce R., additional, Cooper, Gregory M., additional, and Brothers, Kyle B., additional

Published
2023
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25. ARF1-related disorder: phenotypic and molecular spectrum

Author

de Sainte Agathe, Jean-Madeleine, primary, Pode-Shakked, Ben, additional, Naudion, Sophie, additional, Michaud, Vincent, additional, Arveiler, Benoit, additional, Fergelot, Patricia, additional, Delmas, Jean, additional, Keren, Boris, additional, Poirsier, Céline, additional, Alkuraya, Fowzan S, additional, Tabarki, Brahim, additional, Bend, Eric, additional, Davis, Kellie, additional, Bebin, Martina, additional, Thompson, Michelle L, additional, Bryant, Emily M, additional, Wagner, Matias, additional, Hannibal, Iris, additional, Lenberg, Jerica, additional, Krenn, Martin, additional, Wigby, Kristen M, additional, Friedman, Jennifer R, additional, Iascone, Maria, additional, Cereda, Anna, additional, Miao, Térence, additional, LeGuern, Eric, additional, Argilli, Emanuela, additional, Sherr, Elliott, additional, Caluseriu, Oana, additional, Tidwell, Timothy, additional, Bayrak-Toydemir, Pinar, additional, Hagedorn, Caroline, additional, Brugger, Melanie, additional, Vill, Katharina, additional, Morneau-Jacob, Francois-Dominique, additional, Chung, Wendy, additional, Weaver, Kathryn N, additional, Owens, Joshua W, additional, Husami, Ammar, additional, Chaudhari, Bimal P, additional, Stone, Brandon S, additional, Burns, Katie, additional, Li, Rachel, additional, de Lange, Iris M, additional, Biehler, Margaux, additional, Ginglinger, Emmanuelle, additional, Gérard, Bénédicte, additional, Stottmann, Rolf W, additional, and Trimouille, Aurélien, additional

Published
2023
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26. 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care

Author

Limdi, Nita A, primary, Absher, Devin, additional, Asif, Irf, additional, Bateman, Lori, additional, Barsh, Greg, additional, Bowling, Kevin M., additional, Cooper, Gregory M., additional, Davis, Brittney H., additional, East, Kelly M., additional, Finnila, Candice R., additional, Goff, Blake, additional, Hiatt, Susan, additional, Kelly, Melissa, additional, Kelley, Whitley V., additional, Korf, Bruce R., additional, Latner, Donald R., additional, Lawlor, James, additional, May, Thomas, additional, Might, Matt, additional, Moss, Irene P., additional, Nakano-Okuno, Mariko, additional, Osborne, Tiffany, additional, Sodeke, Stephen, additional, Stout, Adriana, additional, and Thompson, Michelle L., additional

Published
2023
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32. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Author

National Institutes of Health (US), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), University of Alabama at Birmingham, Ministerio de Ciencia e Innovación (España), Ministerio de Educación y Ciencia (España), Manchester Biomedical Research Centre, European Commission, National Institute for Health Research (UK), Wellcome Trust, Cancer Research UK, Medical Research Council (UK), Wellcome Sanger Institute, Gracia-Díaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, España-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fátima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., Cruz, Xavier de la, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M. J., Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian, Akizu, Naiara, National Institutes of Health (US), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), University of Alabama at Birmingham, Ministerio de Ciencia e Innovación (España), Ministerio de Educación y Ciencia (España), Manchester Biomedical Research Centre, European Commission, National Institute for Health Research (UK), Wellcome Trust, Cancer Research UK, Medical Research Council (UK), Wellcome Sanger Institute, Gracia-Díaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, España-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fátima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., Cruz, Xavier de la, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M. J., Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian, and Akizu, Naiara

Abstract

Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders.

Published
2023

33. Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

Author

Felker, Stephanie A, primary, Lawlor, James MJ, additional, Hiatt, Susan M, additional, Thompson, Michelle L, additional, Latner, Donald R, additional, Finnila, Candice R, additional, Bowling, Kevin M, additional, Bonnstetter, Zachary T, additional, Bonini, Katherine E, additional, Kelly, Nicole R, additional, Kelley, Whitley V, additional, Hurst, Anna CE, additional, Kelly, Melissa A, additional, Nakouzi, Ghunwa, additional, Hendon, Laura G, additional, Bebin, E Martina, additional, Kenny, Eimear E, additional, and Cooper, Gregory M, additional

Published
2023
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35. Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Author

Hart, M. Ragan, Biesecker, Barbara B., Blout, Carrie L., Christensen, Kurt D., Amendola, Laura M., Bergstrom, Katie L., Biswas, Sawona, Bowling, Kevin M., Brothers, Kyle B., Conlin, Laura K., Cooper, Greg M., Dulik, Matthew C., East, Kelly M., Everett, Jessica N., Finnila, Candice R., Ghazani, Arezou A., Gilmore, Marian J., Goddard, Katrina A. B., Jarvik, Gail P., Johnston, Jennifer J., Kauffman, Tia L., Kelley, Whitley V., Krier, Joel B., Lewis, Katie L., McGuire, Amy L., McMullen, Carmit, Ou, Jeffrey, Plon, Sharon E., Rehm, Heidi L., Richards, C. Sue, Romasko, Edward J., Sagardia, Ane Miren, Spinner, Nancy B., Thompson, Michelle L., Turbitt, Erin, Vassy, Jason L., Wilfond, Benjamin S., Veenstra, David L., Berg, Jonathan S., Green, Robert C., Biesecker, Leslie G., and Hindorff, Lucia A.

Published
2019
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36. A potato intragene overexpressing GSL1 confers resistance to Pectobacterium atrosepticum.

Author

Jacobs, Jeanne M. E., Meiyalaghan, Sathiyamoorthy, Mohan, Sara, Latimer, Julie M., Thompson, Michelle L., Monaghan, Katrina S., Jones, E. Eirian, and Conner, Anthony J.

Subjects
ERWINIA, GENETIC overexpression, GENE rearrangement, GENE expression, PLANT genes, POTATOES
Abstract

An intragene involves the rearrangement of gene configurations based on switching coding sequences and regulatory regions within a species. The overexpression of specific GSL (Gibberellin Stimulated-Like) genes is known to confer enhanced disease resistance. A potato intragenic expression cassette, with the potato GSL1 gene placed under the regulatory control of the light-inducible Lhca3 gene from potato, was designed and constructed. The resulting intragene was transformed using Agrobacterium-mediated gene transfer into potato cultivar Iwa to investigate whether overexpression of the potato GSL1 intragene can confer disease resistance. The transgenic status of the resulting plants was confirmed by PCR. The majority of the transgenic potato lines were determined to overexpress the GSL1 gene at the mRNA level using quantitative RT–PCR analysis. From these results, seven lines were selected for further characterisation and thoroughly evaluated in bioassays for resistance to Pectobacterium atrosepticum which causes blackleg disease in potato. These pathogenicity bioassays demonstrated that high transcriptional overexpression of GSL1 confers high resistance to blackleg disease. This confirms a functional role of the GSL1 gene in plant defence against pathogens and provides an intragenic approach for disease resistance in potatoes. [ABSTRACT FROM AUTHOR]

Published
2023
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37. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Author

van der Spek, Jet, primary, den Hoed, Joery, additional, Snijders Blok, Lot, additional, Dingemans, Alexander J.M., additional, Schijven, Dick, additional, Nellaker, Christoffer, additional, Venselaar, Hanka, additional, Astuti, Galuh D.N., additional, Barakat, Tahsin Stefan, additional, Bebin, E. Martina, additional, Beck-Wödl, Stefanie, additional, Beunders, Gea, additional, Brown, Natasha J., additional, Brunet, Theresa, additional, Brunner, Han G., additional, Campeau, Philippe M., additional, Čuturilo, Goran, additional, Gilissen, Christian, additional, Haack, Tobias B., additional, Hüning, Irina, additional, Husain, Ralf A., additional, Kamien, Benjamin, additional, Lim, Sze Chern, additional, Lovrecic, Luca, additional, Magg, Janine, additional, Maver, Ales, additional, Miranda, Valancy, additional, Monteil, Danielle C., additional, Ockeloen, Charlotte W., additional, Pais, Lynn S., additional, Plaiasu, Vasilica, additional, Raiti, Laura, additional, Richmond, Christopher, additional, Rieß, Angelika, additional, Schwaibold, Eva M.C., additional, Simon, Marleen E.H., additional, Spranger, Stephanie, additional, Tan, Tiong Yang, additional, Thompson, Michelle L., additional, de Vries, Bert B.A., additional, Wilkins, Ella J., additional, Willemsen, Marjolein H., additional, Francks, Clyde, additional, Vissers, Lisenka E.L.M., additional, Fisher, Simon E., additional, and Kleefstra, Tjitske, additional

Published
2022
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39. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Author

Brain, Genetica Klinische Genetica, van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J M, Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D N, Barakat, Tahsin Stefan, Bebin, E Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J, Brunet, Theresa, Brunner, Han G, Campeau, Philippe M, Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B, Hüning, Irina, Husain, Ralf A, Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C, Ockeloen, Charlotte W, Pais, Lynn S, Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M C, Simon, Marleen E H, Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L, de Vries, Bert B A, Wilkins, Ella J, Willemsen, Marjolein H, Francks, Clyde, Vissers, Lisenka E L M, Fisher, Simon E, Kleefstra, Tjitske, Brain, Genetica Klinische Genetica, van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J M, Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D N, Barakat, Tahsin Stefan, Bebin, E Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J, Brunet, Theresa, Brunner, Han G, Campeau, Philippe M, Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B, Hüning, Irina, Husain, Ralf A, Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C, Ockeloen, Charlotte W, Pais, Lynn S, Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M C, Simon, Marleen E H, Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L, de Vries, Bert B A, Wilkins, Ella J, Willemsen, Marjolein H, Francks, Clyde, Vissers, Lisenka E L M, Fisher, Simon E, and Kleefstra, Tjitske

Published
2022

40. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Author

Guimier, Anne, primary, Achleitner, Melanie T., additional, Moreau de Bellaing, Anne, additional, Edwards, Matthew, additional, de Pontual, Loïc, additional, Mittal, Kirti, additional, Dunn, Kyla E., additional, Grove, Megan E., additional, Tysoe, Carolyn J., additional, Dimartino, Clémantine, additional, Cameron, Jessie, additional, Kanthi, Anil, additional, Shukla, Anju, additional, van den Broek, Florence, additional, Chatterjee, Diptendu, additional, Alston, Charlotte L., additional, Knowles, Charlotte V., additional, Brett, Laura, additional, Till, Jan A., additional, Homfray, Tessa, additional, French, Paul, additional, Spentzou, Georgia, additional, Elserafy, Noha A., additional, Lichkus, Kate S., additional, Sankaran, Bindu P., additional, Kennedy, Hannah L., additional, George, Peter M., additional, Kidd, Alexa, additional, Wortmann, Saskia B., additional, Fisk, Dianna G., additional, Koopmann, Tamara T., additional, Rafiq, Muhammad A., additional, Merker, Jason D., additional, Parikh, Sumith, additional, Ahimaz, Priyanka, additional, Weintraub, Robert G., additional, Ma, Alan S., additional, Turner, Christian, additional, Ellaway, Carolyn J., additional, Phillips, Liza K., additional, Thorburn, David R., additional, Chung, Wendy K., additional, Kana, Sajel L., additional, Faye-Petersen, Ona M., additional, Thompson, Michelle L., additional, Janin, Alexandre, additional, McLeod, Karen, additional, McGowan, Ruth, additional, McFarland, Robert, additional, Girisha, Katta M., additional, Morris-Rosendahl, Deborah J., additional, Hurst, Anna C.E., additional, Turner, Claire L.S., additional, Hamilton, Robert M., additional, Taylor, Robert W., additional, Bajolle, Fanny, additional, Gordon, Christopher T., additional, Amiel, Jeanne, additional, Mayr, Johannes A., additional, and Doudney, Kit, additional

Published
2022
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41. Genome sequencing as a first-line diagnostic test for hospitalized infants

Author

Bowling, Kevin M., primary, Thompson, Michelle L., additional, Finnila, Candice R., additional, Hiatt, Susan M., additional, Latner, Donald R., additional, Amaral, Michelle D., additional, Lawlor, James M.J., additional, East, Kelly M., additional, Cochran, Meagan E., additional, Greve, Veronica, additional, Kelley, Whitley V., additional, Gray, David E., additional, Felker, Stephanie A., additional, Meddaugh, Hannah, additional, Cannon, Ashley, additional, Luedecke, Amanda, additional, Jackson, Kelly E., additional, Hendon, Laura G., additional, Janani, Hillary M., additional, Johnston, Marla, additional, Merin, Lee Ann, additional, Deans, Sarah L., additional, Tuura, Carly, additional, Williams, Heather, additional, Laborde, Kelly, additional, Neu, Matthew B., additional, Patrick-Esteve, Jessica, additional, Hurst, Anna C.E., additional, Kandasamy, Jegen, additional, Carlo, Wally, additional, Brothers, Kyle B., additional, Kirmse, Brian M., additional, Savich, Renate, additional, Superneau, Duane, additional, Spedale, Steven B., additional, Knight, Sara J., additional, Barsh, Gregory S., additional, Korf, Bruce R., additional, and Cooper, Gregory M., additional

Published
2022
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42. Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders

Author

Zhou, Jian, primary, Hamdan, Hamdan, additional, Yalamanchili, Hari Krishna, additional, Pang, Kaifang, additional, Pohodich, Amy E., additional, Lopez, Joanna, additional, Shao, Yingyao, additional, Oses-Prieto, Juan A., additional, Li, Lifang, additional, Kim, Wonho, additional, Durham, Mark A., additional, Bajikar, Sameer S., additional, Palmer, Donna J., additional, Ng, Philip, additional, Thompson, Michelle L., additional, Bebin, E. Martina, additional, Müller, Amelie J., additional, Kuechler, Alma, additional, Kampmeier, Antje, additional, Haack, Tobias B., additional, Burlingame, Alma L., additional, Liu, Zhandong, additional, Rasband, Matthew N., additional, and Zoghbi, Huda Y., additional

Published
2022
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44. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Author

Guimier, Anne, primary, Achleitner, Melanie T., additional, Moreau de Bellaing, Anne, additional, Edwards, Matthew, additional, de Pontual, Loïc, additional, Mittal, Kirti, additional, Dunn, Kyla E., additional, Grove, Megan E., additional, Tysoe, Carolyn J., additional, Dimartino, Clémantine, additional, Cameron, Jessie, additional, Kanthi, Anil, additional, Shukla, Anju, additional, van den Broek, Florence, additional, Chatterjee, Diptendu, additional, Alston, Charlotte L., additional, Knowles, Charlotte V., additional, Brett, Laura, additional, Till, Jan A., additional, Homfray, Tessa, additional, French, Paul, additional, Spentzou, Georgia, additional, Elserafy, Noha A., additional, Lichkus, Kate S., additional, Sankaran, Bindu P., additional, Kennedy, Hannah L., additional, George, Peter M., additional, Kidd, Alexa, additional, Wortmann, Saskia B., additional, Fisk, Dianna G., additional, Koopmann, Tamara T., additional, Rafiq, Muhammad A., additional, Merker, Jason D., additional, Parikh, Sumith, additional, Ahimaz, Priyanka, additional, Weintraub, Robert G., additional, Ma, Alan S., additional, Turner, Christian, additional, Ellaway, Carolyn J., additional, Phillips, Liza K., additional, Thorburn, David R., additional, Chung, Wendy K., additional, Kana, Sajel L., additional, Faye-Petersen, Ona M., additional, Thompson, Michelle L., additional, Janin, Alexandre, additional, McLeod, Karen, additional, McGowan, Ruth, additional, McFarland, Robert, additional, Girisha, Katta M., additional, Morris-Rosendahl, Deborah J., additional, Hurst, Anna C.E., additional, Turner, Claire L.S., additional, Hamilton, Robert M., additional, Taylor, Robert W., additional, Bajolle, Fanny, additional, Gordon, Christopher T., additional, Amiel, Jeanne, additional, Mayr, Johannes A., additional, and Doudney, Kit, additional

Published
2021
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46. List of Contributors

Author

Alix-Panabieres, Catherine, primary, Arlt, Matthias J.E., additional, Bataille, Regis, additional, Bedard, Gillian, additional, Berthold, Dominik R., additional, Bianco, Paolo, additional, Blanchard, Frédéric, additional, Blay, Jean-Yves, additional, Bolton, Damien, additional, Bolzoni, Marina, additional, Born, Walter, additional, Botter, Sander M., additional, Bouvier, Corinne, additional, Brounais-Le Royer, Bénédicte, additional, Brown, Nicola J., additional, Buijs, Jeroen T., additional, Camacho, Daniel F., additional, Campbell, Preston, additional, Chappard, Daniel, additional, Chartier, Stephane, additional, Chou, Hong, additional, Chow, Edward, additional, Chow, Ronald, additional, Christoulas, Dimitrios, additional, Cleton-Jansen, Anne-Marie, additional, Clézardin, Philippe, additional, Clohisy, Denis R., additional, Coleman, Robert, additional, Corradini, Nadège, additional, Croset, Martine, additional, de Pinieux, Gonzague, additional, Derbel, Olfa, additional, Desiderio, Vincenzo, additional, Edwards, James R., additional, Elefteriou, Florent, additional, Fealk, Michelle, additional, Flanagan, Adrienne M., additional, Fournier, Pierrick G.J., additional, Fromigué, Olivia, additional, Fuchs, Bruno, additional, Gao, Dingcheng, additional, Gikas, Panagiotis D., additional, Giuliani, Nicola, additional, Gnant, Michael, additional, Gomez-Brouchet, Anne, additional, Gosheger, Georg, additional, Gouin, François, additional, Guise, Theresa A., additional, Harada, Shuko, additional, Hardes, Jendrik, additional, Hauben, Esther I., additional, He, Wei, additional, Herrera, Fernanda G., additional, Heymann, Marie-Françoise, additional, Hicks, David G., additional, Hogendoorn, Pancras C.W., additional, Holen, Ingunn, additional, Ilaslan, Hakan, additional, Isidor, Bertrand, additional, Jacques, Camille, additional, Juàrez, Patricia, additional, Junankar, Simon, additional, Kabelitz, Dieter, additional, Kalyan, Shirin, additional, Kontny, Udo, additional, Knuutila, Sakari, additional, La Noce, Marcella, additional, Lamora, Audrey, additional, Lamoureux, Francois, additional, Lao, Nicholas, additional, Lawrentschuk, Nathan, additional, Lawson, Michelle A., additional, Lecanda, Fernando, additional, Lee, Jiyun, additional, Lézot, Frédéric, additional, Li, Shibo, additional, Lissat, Andrej, additional, Ludwig, Joseph, additional, Määttä, Jorma A., additional, Mallinson, Paul I., additional, Mantyh, Patrick W., additional, Marie, Pierre J., additional, Mavrogenis, Andreas F., additional, Mikkilineni, Himabindu, additional, Mittal, Vivek, additional, Modrowski, Dominique, additional, Munk, Peter L., additional, Navet, Benjamin, additional, Niini, Tarja, additional, O’Donnell, Patrick W., additional, Odri, Guillaume, additional, Ory, Benjamin, additional, Ouellette, Hugue A., additional, Paino, Francesca, additional, Pantel, K., additional, Papaccio, Federica, additional, Papaccio, Gianpaolo, additional, Park, Paul C., additional, Paterson, Alexander H.G., additional, Patiño-García, Ana, additional, Pienta, Kenneth J., additional, Popovic, Marko, additional, Rajarubendra, Nieroshan, additional, Redini, Françoise, additional, Reeves, Kimberley J., additional, Reisinger, Clemens, additional, Riminucci, Mara, additional, Rodriguez, Lidia, additional, Rogers, Michael J., additional, Ruggieri, Pietro, additional, Sacchetti, Benedetto, additional, Seibel, Markus J., additional, Selvarajah, Shamini, additional, Siegal, Gene P., additional, Sousa, Sofia, additional, Squire, Jeremy A., additional, Sternenberger, Andrea R., additional, Streitbuerger, Arne, additional, Stresing, Verena, additional, Sundaram, Murali, additional, Talbot, Julie, additional, Tang, Ping, additional, Tawadros, Thomas, additional, Terpos, Evangelos, additional, Thomas, Christian, additional, Thompson, Erik W., additional, Thompson, Michelle L., additional, Tirabosco, Roberto, additional, Tirino, Virginia, additional, Tirode, Franck, additional, Trichet, Valèrie, additional, van der Horst, Geertje, additional, van der Pluijm, Gabri, additional, Verrecchia, Franck, additional, Walkley, Carl R., additional, Wei, Shi, additional, and Zielenska, Maria, additional

Published
2015
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47. Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

Author

van der Spek, Jet, primary, den Hoed, Joery, additional, Snijders Blok, Lot, additional, Dingemans, Alexander J. M., additional, Schijven, Dick, additional, Nellaker, Christoffer, additional, Venselaar, Hanka, additional, Barakat, Tahsin Stefan, additional, Bebin, E. Martina, additional, Beck-Wödl, Stefanie, additional, Beunders, Gea, additional, Brown, Natasha J., additional, Brunet, Theresa, additional, Brunner, Han G., additional, Campeau, Philippe M., additional, Čuturilo, Goran, additional, Gilissen, Christian, additional, Haack, Tobias B., additional, Husain, Ralf A., additional, Kamien, Benjamin, additional, Lim, Sze Chern, additional, Lovrecic, Luca, additional, Magg, Janine, additional, Maver, Ales, additional, Miranda, Valancy, additional, Monteil, Danielle C., additional, Ockeloen, Charlotte W., additional, Pais, Lynn S., additional, Plaiasu, Vasilica, additional, Raiti, Laura, additional, Richmond, Christopher, additional, Rieß, Angelika, additional, Schwaibold, Eva M. C., additional, Simon, Marleen E. H., additional, Spranger, Stephanie, additional, Tan, Tiong Yang, additional, Thompson, Michelle L., additional, de Vries, Bert B.A., additional, Wilkins, Ella J., additional, Willemsen, Marjolein H., additional, Francks, Clyde, additional, Vissers, Lisenka E. L. M., additional, Fisher, Simon E., additional, and Kleefstra, Tjitske, additional

Published
2021
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48. Genome sequencing as a first-line diagnostic test for hospitalized newborns

Author

Bowling, Kevin M., primary, Thompson, Michelle L., additional, Finnila, Candice R., additional, Hiatt, Susan M., additional, Latner, Donald R., additional, Amaral, Michelle D., additional, Lawlor, James M.J., additional, East, Kelly M., additional, Cochran, Meagan E., additional, Greve, Veronica, additional, Kelley, Whitley V., additional, Gray, David E., additional, Felker, Stephanie A., additional, Meddaugh, Hanna, additional, Cannon, Ashley, additional, Luedecke, Amanda, additional, Jackson, Kelly E., additional, Hendon, Laura G., additional, Janani, Hillary M., additional, Johnston, Marla, additional, Merin, Lee Ann, additional, Deans, Sarah L., additional, Tuura, Carly, additional, Williams, Heather, additional, Laborde, Kelly, additional, Neu, Matthew B., additional, Patrick-Esteve, Jessica, additional, Hurst, Anna C.E., additional, Kandasamy, Jegen, additional, Carlo, Wally, additional, Brothers, Kyle B., additional, Kirmse, Brian M., additional, Savich, Renate, additional, Superneau, Duane, additional, Spedale, Steven B., additional, Knight, Sara J., additional, Barsh, Gregory S., additional, Korf, Bruce R., additional, and Cooper, Gregory M., additional

Published
2021
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49. A potato intragene overexpressing GSL1confers resistance to Pectobacterium atrosepticum

Author

Jacobs, Jeanne M. E., Meiyalaghan, Sathiyamoorthy, Mohan, Sara, Latimer, Julie M., Thompson, Michelle L., Monaghan, Katrina S., Jones, E. Eirian, and Conner, Anthony J.

Abstract

ABSTRACTAn intragene involves the rearrangement of gene configurations based on switching coding sequences and regulatory regions within a species. The overexpression of specific GSL (Gibberellin Stimulated-Like) genes is known to confer enhanced disease resistance. A potato intragenic expression cassette, with the potato GSL1gene placed under the regulatory control of the light-inducible Lhca3gene from potato, was designed and constructed. The resulting intragene was transformed using Agrobacterium-mediated gene transfer into potato cultivar Iwa to investigate whether overexpression of the potato GSL1intragene can confer disease resistance. The transgenic status of the resulting plants was confirmed by PCR. The majority of the transgenic potato lines were determined to overexpress the GSL1gene at the mRNA level using quantitative RT–PCR analysis.From these results, seven lines were selected for further characterisation and thoroughly evaluated in bioassays for resistance to Pectobacterium atrosepticumwhich causes blackleg disease in potato. These pathogenicity bioassays demonstrated that high transcriptional overexpression of GSL1 confers high resistance to blackleg disease. This confirms a functional role of the GSL1gene in plant defence against pathogens and provides an intragenic approach for disease resistance in potatoes.

Published
2023
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50. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Author

Chopra, Maya, primary, McEntagart, Meriel, additional, Clayton-Smith, Jill, additional, Platzer, Konrad, additional, Shukla, Anju, additional, Girisha, Katta M., additional, Kaur, Anupriya, additional, Kaur, Parneet, additional, Pfundt, Rolph, additional, Veenstra-Knol, Hermine, additional, Mancini, Grazia M.S., additional, Cappuccio, Gerarda, additional, Brunetti-Pierri, Nicola, additional, Kortüm, Fanny, additional, Hempel, Maja, additional, Denecke, Jonas, additional, Lehman, Anna, additional, Kleefstra, Tjitske, additional, Stuurman, Kyra E., additional, Wilke, Martina, additional, Thompson, Michelle L., additional, Bebin, E. Martina, additional, Bijlsma, Emilia K., additional, Hoffer, Mariette J.V., additional, Peeters-Scholte, Cacha, additional, Slavotinek, Anne, additional, Weiss, William A., additional, Yip, Tiffany, additional, Hodoglugil, Ugur, additional, Whittle, Amy, additional, diMonda, Janette, additional, Neira, Juanita, additional, Yang, Sandra, additional, Kirby, Amelia, additional, Pinz, Hailey, additional, Lechner, Rosan, additional, Sleutels, Frank, additional, Helbig, Ingo, additional, McKeown, Sarah, additional, Helbig, Katherine, additional, Willaert, Rebecca, additional, Juusola, Jane, additional, Semotok, Jennifer, additional, Hadonou, Medard, additional, Short, John, additional, Yachelevich, Naomi, additional, Lala, Sajel, additional, Fernández-Jaen, Alberto, additional, Pelayo, Janvier Porta, additional, Klöckner, Chiara, additional, Kamphausen, Susanne B., additional, Abou Jamra, Rami, additional, Arelin, Maria, additional, Innes, A. Micheil, additional, Niskakoski, Anni, additional, Amin, Sam, additional, Williams, Maggie, additional, Evans, Julie, additional, Smithson, Sarah, additional, Smedley, Damian, additional, de Burca, Anna, additional, Kini, Usha, additional, Delatycki, Martin B., additional, Gallacher, Lyndon, additional, Yeung, Alison, additional, Pais, Lynn, additional, Field, Michael, additional, Martin, Ellenore, additional, Charles, Perrine, additional, Courtin, Thomas, additional, Keren, Boris, additional, Iascone, Maria, additional, Cereda, Anna, additional, Poke, Gemma, additional, Abadie, Véronique, additional, Chalouhi, Christel, additional, Parthasarathy, Padmini, additional, Halliday, Benjamin J., additional, Robertson, Stephen P., additional, Lyonnet, Stanislas, additional, Amiel, Jeanne, additional, and Gordon, Christopher T., additional

Published
2021
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