200 results on '"Stals, Karen"'
Search Results
2. CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
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Szenker-Ravi, Emmanuelle, Ott, Tim, Yusof, Amirah, Chopra, Maya, Khatoo, Muznah, Pak, Beatrice, Xuan Goh, Wei, Beckers, Anja, Brady, Angela F., Ewans, Lisa J., Djaziri, Nabila, Almontashiri, Naif A.M., Alghamdi, Malak Ali, Alharby, Essa, Dasouki, Majed, Romo, Lindsay, Tan, Wen-Hann, Maddirevula, Sateesh, Alkuraya, Fowzan S., Giordano, Jessica L., Alkelai, Anna, Wapner, Ronald J., Stals, Karen, Alfadhel, Majid, Alswaid, Abdulrahman Faiz, Bogusch, Susanne, Schafer-Kosulya, Anna, Vogel, Sebastian, Vick, Philipp, Schweickert, Axel, Wakeling, Matthew, Moreau de Bellaing, Anne, Alshamsi, Aisha M., Sanlaville, Damien, Mbarek, Hamdi, Saad, Chadi, Ellard, Sian, Eisenhaber, Frank, Tripolszki, Kornelia, Beetz, Christian, Bauer, Peter, Gossler, Achim, Eisenhaber, Birgit, Blum, Martin, Bouvagnet, Patrice, Bertoli-Avella, Aida, Amiel, Jeanne, Gordon, Christopher T., and Reversade, Bruno
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- 2025
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3. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
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Ganapathi, Mythily, Matsuoka, Leticia S., March, Michael, Li, Dong, Brokamp, Elly, Benito-Sanz, Sara, White, Susan M., Lachlan, Katherine, Ahimaz, Priyanka, Sewda, Anshuman, Bastarache, Lisa, Thomas-Wilson, Amanda, Stoler, Joan M., Bramswig, Nuria C., Baptista, Julia, Stals, Karen, Demurger, Florence, Cogne, Benjamin, Isidor, Bertrand, Bedeschi, Maria Francesca, Peron, Angela, Amiel, Jeanne, Zackai, Elaine, Schacht, John P., Iglesias, Alejandro D., Morton, Jenny, Schmetz, Ariane, Seidel, Verónica, Lucia, Stephanie, Baskin, Stephanie M., Thiffault, Isabelle, Cogan, Joy D., Gordon, Christopher T., Chung, Wendy K., Bowdin, Sarah, and Bhoj, Elizabeth
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- 2023
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4. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
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Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Konstantino, Monica, Leach, Meganne E., McCormick, David, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.
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- 2024
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5. Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease
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Chen, Wenqian, Rehsi, Preeya, Thompson, Kyle, Yeo, Mildrid, Stals, Karen, He, Langping, Schimmel, Paul, Chrzanowska-Lightowlers, Zofia M.A., Wakeling, Emma, Taylor, Robert W., and Kuhle, Bernhard
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- 2023
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6. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
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Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., and Roscioli, Tony
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- 2022
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7. Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
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Ismail, Vardha, Zachariassen, Linda G., Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L., Baple, Emma, Brown, Kate Tatton, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M., Pedersen, Miriam G., Desir, Julie, Bayat, Allan, Musgaard, Maria, Guille, Matthew, Kristensen, Anders S., and Baralle, Diana
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- 2022
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8. Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement
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Hjeij, Rim, primary, Leslie, Joseph, additional, Rizk, Hoda, additional, Dworniczak, Bernd, additional, Olbrich, Heike, additional, Raidt, Johanna, additional, Bode, Sebastian Felix Nepomuk, additional, Gardham, Alice, additional, Stals, Karen, additional, Al-Haggar, Mohammad, additional, Osman, Engy, additional, Crosby, Andrew, additional, Eldesoky, Tarek, additional, Baple, Emma, additional, and Omran, Heymut, additional
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- 2024
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9. Expanded phenotype of AARS1-related white matter disease
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Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E.C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, and Husain, Ralf A.
- Published
- 2021
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10. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
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Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S., Baranano, Kristin, Ismail, Fatima Y., Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet, Maki, Yuta, Sachdev, Rani, Macintosh, Rebecca, Palmer, Elizabeth E., Mancini, Grazia M.S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias, Wortmann, Saskia B., Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh, Campeau, Philippe M., and Murakami, Yoshiko
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- 2021
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11. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
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Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, and Caswell, Richard C.
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- 2021
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12. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
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Barish, Scott, Barakat, Tahsin Stefan, Michel, Brittany C., Mashtalir, Nazar, Phillips, Jennifer B., Valencia, Alfredo M., Ugur, Berrak, Wegner, Jeremy, Scott, Tiana M., Bostwick, Brett, Murdock, David R., Dai, Hongzheng, Perenthaler, Elena, Nikoncuk, Anita, van Slegtenhorst, Marjon, Brooks, Alice S., Keren, Boris, Nava, Caroline, Mignot, Cyril, Douglas, Jessica, Rodan, Lance, Nowak, Catherine, Ellard, Sian, Stals, Karen, Lynch, Sally Ann, Faoucher, Marie, Lesca, Gaetan, Edery, Patrick, Engleman, Kendra L., Zhou, Dihong, Thiffault, Isabelle, Herriges, John, Gass, Jennifer, Louie, Raymond J., Stolerman, Elliot, Washington, Camerun, Vetrini, Francesco, Otsubo, Aiko, Pratt, Victoria M., Conboy, Erin, Treat, Kayla, Shannon, Nora, Camacho, Jose, Wakeling, Emma, Yuan, Bo, Chen, Chun-An, Rosenfeld, Jill A., Westerfield, Monte, Wangler, Michael, Yamamoto, Shinya, Kadoch, Cigall, Scott, Daryl A., and Bellen, Hugo J.
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- 2020
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13. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
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Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., and Banka, Siddharth
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- 2020
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14. Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
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Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A., Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, and Baralle, Diana
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- 2021
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15. Rapid genome sequencing for infantile-onset epilepsy within a national health-care setting
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Robinson, Hannah K, primary, Stals, Karen, additional, Hill, Sue, additional, Parrish, Andrew, additional, and Baple, Emma L, additional
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- 2024
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16. Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition
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Burleigh, Alice, primary, Moraitis, Elena, additional, Al Masroori, Eman, additional, Al-Abadi, Eslam, additional, Hong, Ying, additional, Omoyinmi, Ebun, additional, Titheradge, Hannah, additional, Stals, Karen, additional, Jones, Wendy D., additional, Gait, Anthony, additional, Jayarajan, Vignesh, additional, Di, Wei-Li, additional, Sebire, Neil, additional, Solman, Lea, additional, Ogboli, Malobi, additional, Welch, Steven B., additional, Sudarsanam, Annapurna, additional, Wacogne, Ian, additional, Price-Kuehne, Fiona, additional, Jensen, Barbara, additional, Brogan, Paul A., additional, and Eleftheriou, Despina, additional
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- 2023
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17. Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
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Wakeling, Matthew Neil, Laver, Thomas William, Wright, Caroline Fiona, De Franco, Elisa, Stals, Karen Lucy, Patch, Ann-Marie, Hattersley, Andrew Tym, Flanagan, Sarah Elizabeth, Ellard, Sian, and DDD Study
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- 2019
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18. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
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White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., and Carvalho, Claudia M.B.
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- 2018
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19. BiallelicPKP2loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
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Gibb, Jack, primary, Wall, Elizabeth, additional, Fields, Ella, additional, Seale, Anna, additional, Armstrong, Catherine, additional, Bamber, Andrew, additional, Daubeney, Piers, additional, Jacobs-Pearson, Makaela, additional, Marton, Tamas, additional, Stals, Karen, additional, Low, Karen, additional, Kaski, Juan Pablo, additional, and Spentzou, Georgia, additional
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- 2023
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20. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
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Jeffries, Lauren, primary, Mis, Emily K., additional, McWalter, Kirsty, additional, Donkervoort, Sandra, additional, Brodsky, Nina N., additional, Carpier, Jean-Marie, additional, Ji, Weizhen, additional, Ionita, Cristian, additional, Roy, Bhaskar, additional, Morrow, Jon S., additional, Darbinyan, Armine, additional, Iyer, Krishna, additional, Aul, Ritu B., additional, Banka, Siddharth, additional, Chao, Katherine R., additional, Cobbold, Laura, additional, Cohen, Stacey, additional, Custodio, Helena M., additional, Drummond-Borg, Margaret, additional, Elmslie, Frances, additional, Finanger, Erika, additional, Hainline, Bryan E., additional, Helbig, Ingo, additional, Hewson, Stacy, additional, Hu, Ying, additional, Jackson, Adam, additional, Josifova, Dragana, additional, Konstantino, Monica, additional, Leach, Meganne E., additional, Mak, Bryan, additional, McCormick, David, additional, McGee, Elisabeth, additional, Nelson, Stanley, additional, Nguyen, Joanne, additional, Nugent, Kimberly, additional, Ortega, Lucy, additional, Goodkin, Howard P., additional, Roeder, Elizabeth, additional, Roy, Sani, additional, Sapp, Katie, additional, Saade, Dimah, additional, Sisodiya, Sanjay M., additional, Stals, Karen, additional, Towner, Shelley, additional, Wilson, William, additional, Khokha, Mustafa K., additional, Bönnemann, Carsten G., additional, Lucas, Carrie L., additional, Lakhani, Saquib A., additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Agrawal, Pankaj B., additional, Alejandro, Mercedes E., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bennet, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D'Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Deardorff, Matthew, additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Falk, Marni, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Findley, Laurie C., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Glass, Ian, additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Goldman, Alica M., additional, Goldstein, David B., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Gutierrez, Irma, additional, Hahn, Sihoun, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Johnston, Jean M., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kennedy, Jennifer, additional, Kiley, Dana, additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C Christopher, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Christine V Malicdan, May, additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Mefford, Heather, additional, Merritt, J Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nakano-Okuno, Mariko, additional, Nath, Avi, additional, Nelson, Stan F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raskind, Wendy, additional, Raja, Archana N., additional, Rao, Deepak A., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Scott, C Ron, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solem, Emily, additional, Solnica-Krezel, Lilianna, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Tucker, Brianna M., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-Kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Wener, Mark, additional, Wenger, Tara, additional, Perry, Katherine Wesseling, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, Ambrose, J.C., additional, Arumugam, P., additional, Baple, E.L., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boissiere, J.M., additional, Boustred, C.R., additional, Caulfield, M.J., additional, Chan, G.C., additional, Craig, C.E.H., additional, Daugherty, L.C., additional, de Burca, A., additional, Devereau, A., additional, Elgar, G., additional, Foulger, R.E., additional, Fowler, T., additional, FurióTarí, P., additional, Hackett, J.M., additional, Halai, D., additional, Hamblin, A., additional, Henderson, S., additional, Holman, J.E., additional, Hubbard, T.J.P., additional, Ibáñez, K., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Lahnstein, L., additional, Lawson, K., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, MaleadyCrowe, F., additional, Mason, J., additional, McDonagh, E.M., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Polychronopoulos, D., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Riesgo-Ferreiro, P., additional, Rogers, T., additional, Ryten, M., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smedley, D., additional, Smith, K.R., additional, Sosinsky, A., additional, Spooner, W., additional, Stevens, H.E., additional, Stuckey, A., additional, Sultana, R., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Walsh, E., additional, Watters, S.A., additional, Welland, M.J., additional, Williams, E., additional, and Witkowska, K., additional
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- 2023
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21. Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
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Gibb, Jack, Wal, Elizabeth, Fields, Ella, Seale, Anna, Armstrong, Catherine, Bamber, Andrew, Daubeney, Piers, Jacobs-Pearson, Makaela, Marton, Tamas, Stals, Karen, Low, Karen, Kaski, Juan Pablo, and Spentzou, Georgia
- Abstract
Homozygous plakophilin-2 (PKP2) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy. [ABSTRACT FROM AUTHOR]
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- 2024
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22. Biallelic PKP2loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
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Gibb, Jack, Wall, Elizabeth, Fields, Ella, Seale, Anna, Armstrong, Catherine, Bamber, Andrew, Daubeney, Piers, Jacobs-Pearson, Makaela, Marton, Tamas, Stals, Karen, Low, Karen, Kaski, Juan Pablo, and Spentzou, Georgia
- Abstract
Homozygous plakophilin-2 (PKP2) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2variants cause a lethal, perinatal-onset cardiomyopathy.
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- 2024
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23. AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience
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Ramírez-Rentería, Claudia, Hernández-Ramírez, Laura C., Portocarrero-Ortiz, Lesly, Vargas, Guadalupe, Melgar, Virgilio, Espinosa, Etual, Espinosa-de-los-Monteros, Ana Laura, Sosa, Ernesto, González, Baldomero, Zúñiga, Sergio, Unterländer, Martina, Burger, Joachim, Stals, Karen, Bussell, Anne-Marie, Ellard, Sian, Dang, Mary, Iacovazzo, Donato, Kapur, Sonal, Gabrovska, Plamena, Radian, Serban, Roncaroli, Federico, Korbonits, Márta, and Mercado, Moisés
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- 2016
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24. Hereditary spastic paraparesis presenting as cerebral palsy due toADD3variant with mechanistic insight provided by a Drosophila γ‐adducin model
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Sanchez Marco, Silvia Beatriz, primary, Buhl, Edgar, additional, Firth, Rose, additional, Zhu, Bangfu, additional, Gainsborough, Mary, additional, Beleza‐Meireles, Ana, additional, Moore, Sandra, additional, Caswell, Richard, additional, Stals, Karen, additional, Ellard, Sian, additional, Kennedy, Cameron, additional, Hodge, James J. L., additional, and Majumdar, Anirban, additional
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- 2022
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25. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
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Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., and Ellard, Sian
- Published
- 2018
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26. Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: an emerging neurodevelopmental phenotype
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Ismail, Vardha, Zachariassen, Linda, Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L, Tatton Brown, Kate, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M, Pedersen, Miriam G, Desir, Julie, Bayat, Allan, Lusgaard, Maria, Guille, Matthew, Kristensen, Anders S, and Baralle, Diana
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- 2022
27. Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
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Wakeling, Matthew Neil, Laver, Thomas William, Wright, Caroline Fiona, De Franco, Elisa, Stals, Karen Lucy, Patch, Ann-Marie, Hattersley, Andrew Tym, Flanagan, Sarah Elizabeth, Ellard, Sian, and DDD Study
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- 2019
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28. De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder
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Janssen, Beau D. E., primary, van den Boogaard, Marie‐Jose H., additional, Lichtenbelt, Klaske, additional, Seaby, Eleanor G., additional, Stals, Karen, additional, Ellard, Sian, additional, Newbury‐Ecob, Ruth, additional, Dixit, Abhijit, additional, Roht, Laura, additional, Pajusalu, Sander, additional, Õunap, Katrin, additional, Firth, Helen V., additional, Buckley, Michael, additional, Wilson, Meredith, additional, Roscioli, Tony, additional, Tidwell, Timothy, additional, Mao, Rong, additional, Ennis, Sarah, additional, Holwerda, Sjoerd J., additional, van Gassen, Koen, additional, and van Jaarsveld, Richard H., additional
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- 2022
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29. Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID:An emerging neurodevelopmental syndrome
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Ismail, Vardha, Zachariassen, Linda G., Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L., Baple, Emma, Brown, Kate Tatton, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M., Pedersen, Miriam G., Desir, Julie, Bayat, Allan, Musgaard, Maria, Guille, Matthew, Kristensen, Anders S., Baralle, Diana, Ismail, Vardha, Zachariassen, Linda G., Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L., Baple, Emma, Brown, Kate Tatton, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M., Pedersen, Miriam G., Desir, Julie, Bayat, Allan, Musgaard, Maria, Guille, Matthew, Kristensen, Anders S., and Baralle, Diana
- Abstract
GRIA1 encodes the GluA1 subunit of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for the neurotransmitter L-glutamate (Glu). AMPA receptors (AMPARs) are homo- or heteromeric protein complexes with four subunits, each encoded by different genes, GRIA1 to GRIA4. Although GluA1-containing AMPARs have a crucial role in brain function, the human phenotype associated with deleterious GRIA1 sequence variants has not been established. Subjects with de novo missense and nonsense GRIA1 variants were identified through international collaboration. Detailed phenotypic and genetic assessments of the subjects were carried out and the pathogenicity of the variants was evaluated in vitro to characterize changes in AMPAR function and expression. In addition, two Xenopus gria1 CRISPR-Cas9 F-0 models were established to characterize the in vivo consequences. Seven unrelated individuals with rare GRIA1 variants were identified. One individual carried a homozygous nonsense variant (p.Arg377Ter), and six had heterozygous missense variations (p.Arg345Gln, p.Ala636Thr, p.Ile627Thr, and p.Gly745Asp), of which the p.Ala636Thr variant was recurrent in three individuals. The cohort revealed subjects to have a recurrent neurodevelopmental disorder mostly affecting cognition and speech. Functional evaluation of major GluA1-containing AMPAR subtypes carrying the GRIA1 variant mutations showed that three of the four missense variants profoundly perturb receptor function. The homozygous stop-gain variant completely destroys the expression of GluA1-containing AMPARs. The Xenopus gria1 models show transient motor deficits, an intermittent seizure phenotype, and a significant impairment to working memory in mutants. These data support a developmental disorder caused by both heterozygous and homozygous variants in GRIA1 affecting AMPAR function.
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- 2022
30. De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder
- Author
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Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Janssen, Beau D E, van den Boogaard, Marie-Jose H, Lichtenbelt, Klaske, Seaby, Eleanor G, Stals, Karen, Ellard, Sian, Newbury-Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V, Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J, van Gassen, Koen, van Jaarsveld, Richard H, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Janssen, Beau D E, van den Boogaard, Marie-Jose H, Lichtenbelt, Klaske, Seaby, Eleanor G, Stals, Karen, Ellard, Sian, Newbury-Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V, Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J, van Gassen, Koen, and van Jaarsveld, Richard H
- Published
- 2022
31. Heterozygous rare variants in NR2F2cause a recognizable multiple congenital anomaly syndrome with developmental delays
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Ganapathi, Mythily, Matsuoka, Leticia S., March, Michael, Li, Dong, Brokamp, Elly, Benito-Sanz, Sara, White, Susan M., Lachlan, Katherine, Ahimaz, Priyanka, Sewda, Anshuman, Bastarache, Lisa, Thomas-Wilson, Amanda, Stoler, Joan M., Bramswig, Nuria C., Baptista, Julia, Stals, Karen, Demurger, Florence, Cogne, Benjamin, Isidor, Bertrand, Bedeschi, Maria Francesca, Peron, Angela, Amiel, Jeanne, Zackai, Elaine, Schacht, John P., Iglesias, Alejandro D., Morton, Jenny, Schmetz, Ariane, Seidel, Verónica, Lucia, Stephanie, Baskin, Stephanie M., Thiffault, Isabelle, Cogan, Joy D., Gordon, Christopher T., Chung, Wendy K., Bowdin, Sarah, and Bhoj, Elizabeth
- Abstract
Nuclear receptor subfamily 2 group F member 2 (NR2F2or COUP-TF2) encodes a transcription factor which is expressed at high levels during mammalian development. Rare heterozygous Mendelian variants in NR2F2were initially identified in individuals with congenital heart disease (CHD), then subsequently in cohorts of congenital diaphragmatic hernia (CDH) and 46,XX ovotesticular disorders/differences of sexual development (DSD); however, the phenotypic spectrum associated with pathogenic variants in NR2F2remains poorly characterized. Currently, less than 40 individuals with heterozygous pathogenic variants in NR2F2have been reported. Here, we review the clinical and molecular details of 17 previously unreported individuals with rare heterozygous NR2F2variants, the majority of which were de novo. Clinical features were variable, including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations, thus expanding the phenotypic spectrum associated with NR2F2variants. The variants seen were predicted loss of function, including a nonsense variant inherited from a mildly affected mosaic mother, missense and a large deletion including the NR2F2gene. Our study presents evidence for rare, heterozygous NR2F2variants causing a highly variable syndrome of congenital anomalies, commonly associated with heart defects, developmental delays/intellectual disability, dysmorphic features, feeding difficulties, hypotonia, and genital anomalies. Based on the new and previous cases, we provide clinical recommendations for evaluating individuals diagnosed with an NR2F2-associated disorder.
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- 2023
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32. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans
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Guimier, Anne, primary, de Pontual, Loïc, additional, Braddock, Stephen R, additional, Torti, Erin, additional, Pérez-Jurado, Luis A, additional, Muñoz-Cabello, Patricia, additional, Arumí, Montserrat, additional, Monaghan, Kristin G, additional, Lee, Hane, additional, Wang, Lee-kai, additional, Pluym, Ilina D, additional, Lynch, Sally Ann, additional, Stals, Karen, additional, Ellard, Sian, additional, Muller, Cécile, additional, Houyel, Lucile, additional, Cohen, Laurence, additional, Lyonnet, Stanislas, additional, Bajolle, Fanny, additional, Amiel, Jeanne, additional, and Gordon, Christopher T, additional
- Published
- 2022
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33. Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland
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Radian, Serban, Diekmann, Yoan, Gabrovska, Plamena, Holland, Brendan, Bradley, Lisa, Wallace, Helen, Stals, Karen, Bussell, Anna‐Marie, McGurren, Karen, Cuesta, Martin, Ryan, Anthony W., Herincs, Maria, Hernández‐Ramírez, Laura C., Holland, Aidan, Samuels, Jade, Aflorei, Elena Daniela, Barry, Sayka, Dénes, Judit, Pernicova, Ida, Stiles, Craig E., Trivellin, Giampaolo, McCloskey, Ronan, Ajzensztejn, Michal, Abid, Noina, Akker, Scott A., Mercado, Moises, Cohen, Mark, Thakker, Rajesh V., Baldeweg, Stephanie, Barkan, Ariel, Musat, Madalina, Levy, Miles, Orme, Stephen M., Unterländer, Martina, Burger, Joachim, Kumar, Ajith V., Ellard, Sian, McPartlin, Joseph, McManus, Ross, Linden, Gerard J., Atkinson, Brew, Balding, David J., Agha, Amar, Thompson, Chris J., Hunter, Steven J., Thomas, Mark G., Morrison, Patrick J., and Korbonits, Márta
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- 2017
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34. 30 Rapid trio whole exome sequencing (R14) of an undiagnosed child, in the context of a new pregnancy
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Koutsogianni, Maria, primary, Wakeling, Emma, additional, Male, Alison, additional, Stals, Karen, additional, and Ashraf, Tazeen, additional
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- 2021
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35. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
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Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Jr., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Jr., and Tartaglia, Marco
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- 2021
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36. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
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Hernández-Ramírez, Laura C., Gabrovska, Plamena, Dénes, Judit, Stals, Karen, Trivellin, Giampaolo, Tilley, Daniel, Ferraù, Francesco, Evanson, Jane, Ellard, Sian, Grossman, Ashley B., Roncaroli, Federico, Gadelha, Mônica R., Korbonits, Márta, Agha, Amar, Akker, Scott A., Aflorei, Elena D., Alföldi, Sándor, Arlt, Wiebke, Atkinson, Brew, Aulinas-Masó, Anna, Aylwin, Simon J., Backeljauw, Philippe F., Badiu, Corin, Baldeweg, Stephanie, Bano, Gul, Barkan, Ariel, Barwell, Julian, Bernal-González, Carmen, Besser, G. Michael, Bevan, John S., Blair, Jo, Bouloux, Pierre, Bradley, Lisa, Buchfelder, Michael, Cakir, Mehtap, Canham, Natalie, Carroll, Paul, Chahal, Harvinder S., Cheetham, Tim, Chentli, Farida, Clayton, Richard N., Cohen, Mark, Cole, Trevor, Courtney, Hamish, Crowne, Elizabeth, Cuthbertson, Daniel, Dal, Jacob, Dalantaeva, Nadezhda, Daousi, Christina, Darzy, Ken, Dattani, Mehul, Davies, Justin H., Davis, Julian, De Castro, Margaret, De Marinis, Laura, Drake, William, Dutta, Pinaki, Dzeranova, Larisa, Edén-Engström, Britt, Eeles, Rosalind, Elfving, Maria, Elston, Marianne, Emmerson, Louise, Fersht, Naomi, Fica, Simona, Fischli, Stefan, Flanagan, Daniel, Fleseriu, Maria, Freda, Pamela U., Friedman, Theodore, Frohman, Lawrence A., Gallego, Patricia, Gevers, Evelien, Gláz, Edit, Goldman, James A., Goldstone, Anthony P., Goth, Miklos, Greenhalgh, Lynn, Grieve, Joan, Guitelman, Mirtha, Gürlek, Alper, Gurnell, Mark, Horvath, Katalin, Howlett, Trevor A., Höybye, Charlotte, Hunter, Steven, Iacovazzo, Donato, Igaz, Peter, Inder, Warrick J., Iwata, Takeo, Izatt, Louise, Jagadeesh, Sujatha, Kaltsas, Gregory, Kaplan, Felicity, Karavitaki, Niki, Kastelan, Darko, Katz, Michelle, Kearney, Tara, Khoo, Bernard, Kiraly-Borri, Cathy, Knispelis, Robertas, Kovács, Gábor László, Kumar, Ajith V., Laws, Edward R., Jr, Lechan, Ronald M., Levy, Miles J., Lewandowski, Krzysztof, Lo, Janet, Maartens, Niki, Matsuno, Akira, McGowan, Barbara, McQuaid, Siobhán E., Medic-Stojanoska, Milica, Mercado-Atri, Moisés, Mezősi, Emese, Miljic, Dragana, Miller, Karen K., Modenesi, Silvia, Molitch, Mark E., Monson, John, Morris, Damian G., Morrison, Patrick J., Munir, Alia, Murray, Robert D., Musat, Madalina, Musolino, Nina, Nachtigall, Lisa, Newell-Price, John, Ogilvie, Arla, Orme, Steve M., Paşcanu, Ionela, Patócs, Attila, Patterson, Catherine, Pearce, Simon H., Pecori Giraldi, Francesca, Pfeifer, Marija, Popovic, Vera, Poplawski, Nicola, Powell, Michael, Pullan, Peter, Quinton, Richard, Radian, Serban, Randeva, Harpal, Ribeiro-Oliveira, Antônio, Jr, Rodd, Celia, Ryan, Fiona, Salvatori, Roberto, Schöfl, Christof, Shears, Debbie, Shotliff, Kevin, Soares, Beatriz S., Somasundaram, Noel, Spada, Anna, Sperber, James, Spoudeas, Helen A., Stewart, Susan, Storr, Helen, Strasburger, Christian, Street, Maria Elisabeth, Swords, Francesca, Thakker, Rajesh V., Tham, Elaine, Thompson, Chris, Thorner, Dr Michael O., Tóth, Miklós, Trainer, Peter J., Tsagarakis, Stylianos, Tzanela, Marinella, Vadász, János, Vaks, Vladimir, Verkauskiene, Rasa, Wass, John A., Webb, Susan M., Weber, Astrid, Yamada, Shozo, Yarman, Sema, Yeoh, Philip, Yoshimoto, Katsuhiko, and Zammitt, Nicola N.
- Published
- 2015
37. Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort
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Dénes, Judit, Swords, Francesca, Rattenberry, Eleanor, Stals, Karen, Owens, Martina, Cranston, Treena, Xekouki, Paraskevi, Moran, Linda, Kumar, Ajith, Wassif, Christopher, Fersht, Naomi, Baldeweg, Stephanie E., Morris, Damian, Lightman, Stafford, Agha, Amar, Rees, Aled, Grieve, Joan, Powell, Michael, Boguszewski, Cesar Luiz, Dutta, Pinaki, Thakker, Rajesh V., Srirangalingam, Umasuthan, Thompson, Chris J., Druce, Maralyn, Higham, Claire, Davis, Julian, Eeles, Rosalind, Stevenson, Mark, OʼSullivan, Brendan, Taniere, Phillipe, Skordilis, Kassiani, Gabrovska, Plamena, Barlier, Anne, Webb, Susan M., Aulinas, Anna, Drake, William M., Bevan, John S., Preda, Cristina, Dalantaeva, Nadezhda, Ribeiro-Oliveira, Antônio, Jr, Garcia, Isabel Tena, Yordanova, Galina, Iotova, Violeta, Evanson, Jane, Grossman, Ashley B., Trouillas, Jacqueline, Ellard, Sian, Stratakis, Constantine A., Maher, Eamonn R., Roncaroli, Federico, and Korbonits, Márta
- Published
- 2015
38. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
- Author
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Guimier, Anne, Pontual, Loïc de, Braddock, Stephen R, Torti, Erin, Pérez-Jurado, Luis A, Muñoz-Cabello, Patricia, Arumí, Montserrat, Monaghan, Kristin G, Lee, Hane, Wang, Lee-kai, Pluym, Ilina D, Lynch, Sally Ann, Stals, Karen, Ellard, Sian, Muller, Cécile, Houyel, Lucile, Cohen, Laurence, Lyonnet, Stanislas, Bajolle, Fanny, and Amiel, Jeanne
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- 2023
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39. Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model.
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Sanchez Marco, Silvia Beatriz, Buhl, Edgar, Firth, Rose, Zhu, Bangfu, Gainsborough, Mary, Beleza‐Meireles, Ana, Moore, Sandra, Caswell, Richard, Stals, Karen, Ellard, Sian, Kennedy, Cameron, Hodge, James J. L., and Majumdar, Anirban
- Subjects
CEREBRAL palsy ,PARAPARESIS ,DROSOPHILA ,MEDICAL genetics ,MAGNETIC resonance imaging ,FAMILIAL spastic paraplegia ,DYSPLASIA - Abstract
Cerebral palsy (CP) causes neurological disability in early childhood. Hypoxic‐ischaemic injury plays a major role in its aetiology, nevertheless, genetic and epigenetic factors may contribute to the clinical presentation. Mutations in ADD3 (encoding γ‐adducin) gene have been described in a monogenic form of spastic quadriplegic cerebral palsy (OMIM 601568). We studied a 16‐year‐old male with spastic diplegia. Several investigations including neurometabolic testing, brain and spine magnetic resonance imaging (MRI) and CGH‐Array were normal. Further, clinical genetics assessment and whole exome sequencing (WES) gave the diagnosis. We generated an animal model using Drosophila to study the effects of γ‐adducin loss and gain of function. WES revealed a biallelic variant in the ADD3 gene, NM_016824.5(ADD3): c.1100G > A, p.(Gly367Asp). Mutations in this gene have been described as an ultra‐rare autosomal recessive, which is a known form of inherited cerebral palsy. Molecular modelling suggests that this mutation leads to a loss of structural integrity of γ‐adducin and is therefore expected to result in a decreased level of functional protein. Pan‐neuronal over‐expression or knock‐down of the Drosophila ortholog of ADD3 called hts caused a reduction of life span and impaired locomotion thereby phenocopying aspects of the human disease. Our animal experiments present a starting point to understand the biological processes underpinning the clinical phenotype and pathogenic mechanisms, to gain insights into potential future methods for treating or preventing ADD3 related spastic quadriplegic cerebral palsy. [ABSTRACT FROM AUTHOR]
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- 2022
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40. Dominant and recessiveSLC12A2‐syndrome
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McNeill, Alisdair, primary, Aurora, Paul, additional, Rajput, Kaukab, additional, Nash, Robert, additional, Stals, Karen, additional, Robinson, Hannah, additional, and Wakeling, Emma, additional
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- 2021
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41. De novo missense variants in FBXO11 alter its protein expression and subcellular localization
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Gregor, Anne, primary, Meerbrei, Tanja, additional, Gerstner, Thorsten, additional, Toutain, Annick, additional, Lynch, Sally Ann, additional, Stals, Karen, additional, Maxton, Caroline, additional, Lemke, Johannes R, additional, Bernat, John A, additional, Bombei, Hannah M, additional, Foulds, Nicola, additional, Hunt, David, additional, Kuechler, Alma, additional, Beygo, Jasmin, additional, Stöbe, Petra, additional, Bouman, Arjan, additional, Palomares-Bralo, Maria, additional, Santos-Simarro, Fernando, additional, Garcia-Minaur, Sixto, additional, Pacio-Miguez, Marta, additional, Popp, Bernt, additional, Vasileiou, Georgia, additional, Hebebrand, Moritz, additional, Reis, André, additional, Schuhmann, Sarah, additional, Krumbiegel, Mandy, additional, Brown, Natasha J, additional, Sparber, Peter, additional, Melikyan, Lyusya, additional, Bessonova, Liudmila, additional, Cherevatova, Tatiana, additional, Sharkov, Artem, additional, Shcherbakova, Natalia, additional, Dabir, Tabib, additional, Kini, Usha, additional, Schwaibold, Eva M C, additional, Haack, Tobias B, additional, Bertoli, Marta, additional, Hoffjan, Sabine, additional, Falb, Ruth, additional, Shinawi, Marwan, additional, Sticht, Heinrich, additional, and Zweier, Christiane, additional
- Published
- 2021
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42. Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor
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Guaraldi, Federica, Corazzini, Valentina, Gallia, Gary L., Grottoli, Silvia, Stals, Karen, Dalantaeva, Nadezhda, Frohman, Lawrence A., Korbonits, Márta, and Salvatori, Roberto
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- 2012
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43. Additional file 1 of Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
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Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Htoo A. Wai, Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, and Baralle, Diana
- Abstract
Additional file 1: Fig. S1. Demonstrates how CRISPR/ cas9 genome editing induces exon skipping in X.tropicalis. Fig. S2. Shows the eye (a target organ) and the remainder of the crispant tadpole are equally mosaic. Fig. S3. Confirms that disruption to copb1 exon 8 in X.tropicalis mirrors syndromic hallmarks. Fig. S4. Supplemental figure demonstrates a more exaggerated phenotype in tadpoles injected with CRISPR/cas9 targeting exon 3, copb1. Fig. S5. Illustrates Xenopus anatomy and the significant reduction in brain size seen in transgenic tadpoles. Fig. S6. Shows there is no difference in localisation of wild type beta COP versus the Family 2 variant beta COP. Table S1. Details the immunodeficiency investigations performed in Family 2. Table S2. Details other shared homozygous variants identified in both probands of Family one.
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- 2021
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44. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
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Schänzer, Anne, Achleitner, Melanie T., Trümbach, Dietrich, Hubert, Laurence, Munnich, Arnold, Ahlemeyer, Barbara, AlAbdulrahim, Maha M., Greif, Philipp A., Vosberg, Sebastian, Hummer, Blake, Feichtinger, René G., Mayr, Johannes A., Wortmann, Saskia B., Aichner, Heidi, Rudnik-Schöneborn, Sabine, Ruiz, Anna, Gabau, Elisabeth, Sánchez, Jacobo Pérez, Ellard, Sian, Homfray, Tessa, Stals, Karen L., Wurst, Wolfgang, Neubauer, Bernd A., Acker, Till, Bohlander, Stefan K., Asensio, Cédric, Besmond, Claude, Alkuraya, Fowzan S., AlSayed, Moenaldeen D., Hahn, Andreas, Weber, Axel, and Justus Liebig University Giessen
- Subjects
0301 basic medicine ,Male ,Pituitary gland ,Pathology ,medicine.medical_specialty ,Central nervous system ,genetics [Epilepsy] ,Hypopituitarism ,Peptide hormone ,Article ,pathology [Epilepsy] ,03 medical and health sciences ,Epilepsy ,Young Adult ,0302 clinical medicine ,Atrophy ,Exome Sequencing ,Medicine ,Humans ,ddc:610 ,genetics [Hypopituitarism] ,Exome sequencing ,Alleles ,Cerebral atrophy ,Brain Diseases ,business.industry ,genetics [Brain Diseases] ,pathology [Brain Diseases] ,Infant ,medicine.disease ,pathology [Pituitary Gland] ,ddc ,030104 developmental biology ,medicine.anatomical_structure ,Neurology ,Pituitary Gland ,Child, Preschool ,Female ,Neurology (clinical) ,pathology [Hypopituitarism] ,business ,General Economics, Econometrics and Finance ,030217 neurology & neurosurgery - Abstract
Objective Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes affecting the central nervous system (CNS). We aimed to clarify the genetic cause in a group of patients characterized by hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy. Methods Whole exome sequencing (WES) was performed in seven individuals of six unrelated families with these features. Postmortem histopathological and HID1 expression analysis of brain tissue and pituitary gland were conducted in one patient. Functional consequences of the homozygous HID1 variant p.R433W were investigated by Seahorse XF Assay in fibroblasts of two patients. Results Bi-allelic variants in the gene HID1 domain-containing protein 1 (HID1) were identified in all patients. Post mortem examination confirmed cerebral atrophy with enlarged lateral ventricles. Markedly reduced expression of pituitary hormones was found in pituitary gland tissue. Colocalization of HID1 protein with the TGN was not altered in fibroblasts of patients compared to controls, while the extracellular acidification rate (ECAR) upon stimulation with potassium chloride was significantly reduced in patient fibroblasts compared to controls. Interpretation Our findings indicate that mutations in HID1 cause an early infantile encephalopathy with hypopituitarism as the leading presentation, and expand the list of syndromic CNS diseases caused by interference of TGN function. This article is protected by copyright. All rights reserved.
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- 2021
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45. Mutations inHID1Cause Syndromic Infantile Encephalopathy and Hypopituitarism
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Schänzer, Anne, primary, Achleitner, Melanie T., additional, Trümbach, Dietrich, additional, Hubert, Laurence, additional, Munnich, Arnold, additional, Ahlemeyer, Barbara, additional, AlAbdulrahim, Maha M., additional, Greif, Philipp A., additional, Vosberg, Sebastian, additional, Hummer, Blake, additional, Feichtinger, René G., additional, Mayr, Johannes A., additional, Wortmann, Saskia B., additional, Aichner, Heidi, additional, Rudnik‐Schöneborn, Sabine, additional, Ruiz, Anna, additional, Gabau, Elisabeth, additional, Sánchez, Jacobo Pérez, additional, Ellard, Sian, additional, Homfray, Tessa, additional, Stals, Karen L., additional, Wurst, Wolfgang, additional, Neubauer, Bernd A., additional, Acker, Till, additional, Bohlander, Stefan K., additional, Asensio, Cédric, additional, Besmond, Claude, additional, Alkuraya, Fowzan S., additional, AlSayed, Moenaldeen D., additional, Hahn, Andreas, additional, and Weber, Axel, additional
- Published
- 2021
- Full Text
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46. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene
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Pearson, Ewan R., Boj, Sylvia F., Steele, Anna M., Barrett, Timothy, Stals, Karen, Shield, Julian P., Ellard, Sian, Ferrer, Jorge, and Hattersley, Andrew T.
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Metabolic diseases -- Research ,Metabolic diseases -- Genetic aspects ,Morbidity -- Research ,Mutation (Biology) -- Research - Abstract
ABSTRACT Background Macrosomia is associated with considerable neonatal and maternal morbidity. Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in the offspring of pregnant women with [...]
- Published
- 2007
47. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
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Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., and Ellard, Sian
- Published
- 2020
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48. AIP Mutation in Pituitary Adenomas
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Stals, Karen, Trivellin, Giampaolo, and Korbonits, Márta
- Published
- 2011
49. AIP Mutation in Pituitary Adenomas in the 18th Century and Today
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Chahal, Harvinder S., Stals, Karen, Unterländer, Martina, Balding, David J., Thomas, Mark G., Kumar, Ajith V., Besser, Michael G., Atkinson, Brew A., Morrison, Patrick J., Howlett, Trevor A., Levy, Miles J., Orme, Steve M., Akker, Scott A., Abel, Richard L., Grossman, Ashley B., Burger, Joachim, Ellard, Sian, and Korbonits, Márta
- Published
- 2011
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50. Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors
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Marques, Pedro, primary, Caimari, Francisca, additional, Hernandez-Ramirez, Laura C., additional, Collier, David, additional, Iacovazzo, Donato, additional, Ronaldson, Amy, additional, Magid, Kesson, additional, Lim, Chung Thong, additional, Stals, Karen, additional, Ellard, Sian, additional, and Grossman, Ashley B., additional
- Published
- 2020
- Full Text
- View/download PDF
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