Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

von Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E. V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.
Veröffentlicht 2006

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

von Calpena, Eduardo, Wurmser, Maud, McGowan, Simon J, Atique, Rodrigo, Bertola, Débora R, Cunningham, Michael L, Gustafson, Jonas A, Johnson, David, Morton, Jenny E V, Passos-Bueno, Maria Rita, Timberlake, Andrew T, Lifton, Richard P, Wall, Steven A, Twigg, Stephen R F, Maire, Pascal, Wilkie, Andrew O M
Veröffentlicht in J Med Genet (2022)

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

von Jenkins, Dagan , Seelow, Dominik , Jehee, Fernanda S. , Perlyn, Chad A. , Alonso, Luís G. , Bueno, Daniela F. , Donnai, Dian , Josifiova, Dragana , Mathijssen, Irene M. J. , Morton, Jenny E. V. , Ørstavik, Karen Helene , Sweeney, Elizabeth , Wall, Steven A. , Marsh, Jeffrey L. , Nürnberg, Peter , Passos-Bueno, Maria Rita , Wilkie, Andrew O. M. 
Veröffentlicht 2007

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

von Twigg, Stephen R. F., Matsumoto, Kazuya, Kidd, Alexa M. J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M. J., Lourenço, M. Teresa, Morton, Jenny E. V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O. M.
Veröffentlicht 2006

NCOR1/2 loss of function impairs memory through a novel GABAergic hypothalamus–CA3 projection

von Zhou, Wenjun, He, Yanlin, Rehman, Atteeq U., Kong, Yan, Hong, Sungguan, Ding, Guolian, Yalamanchili, Hari Krishna, Wan, Ying-Wooi, Paul, Basil, Wang, Chuhan, Gong, Yingyun, Zhou, Wenxian, Liu, Hao, Dean, John, Scalais, Emmanuel, O’Driscoll, Mary, Morton, Jenny E.V., Hou, Xinguo, Wu, Qi, Tong, Qingchun, Liu, Zhandong, Liu, Pengfei, Xu, Yong, Sun, Zheng
Veröffentlicht in Nat Neurosci (2019)

ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

von Glass, Graeme E., O'Hara, Justine, Canham, Natalie, Cilliers, Deirdre, Dunaway, David, Fenwick, Aimee L., Jeelani, Noor‐Owase, Johnson, David, Lester, Tracy, Lord, Helen, Morton, Jenny E. V., Nishikawa, Hiroshi, Noons, Peter, Schwiebert, Kemmy, Shipster, Caroleen, Taylor‐Beadling, Alison, Twigg, Stephen R. F., Vasudevan, Pradeep, Wall, Steven A., Wilkie, Andrew O. M., Wilson, Louise C.
Veröffentlicht in Am J Med Genet A (2019)

PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

von Morgan, Neil V, Westaway, Shawn K, Morton, Jenny E V, Gregory, Allison, Gissen, Paul, Sonek, Scott, Cangul, Hakan, Coryell, Jason, Canham, Natalie, Nardocci, Nardo, Zorzi, Giovanna, Pasha, Shanaz, Rodriguez, Diana, Desguerre, Isabelle, Mubaidin, Amar, Bertini, Enrico, Trembath, Richard C, Simonati, Alessandro, Schanen, Carolyn, Johnson, Colin A, Levinson, Barbara, Woods, C Geoffrey, Wilmot, Beth, Kramer, Patricia, Gitschier, Jane, Maher, Eamonn R, Hayflick, Susan J
Veröffentlicht 2006

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

von Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.
Veröffentlicht in Am J Hum Genet (2016)

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

von Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.
Veröffentlicht in Genet Med (2020)

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

von Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.
Veröffentlicht in Genet Med (2020)

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the...

von Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Veröffentlicht in Genet Med (2018)

Diagnostic value of exome and whole genome sequencing in craniosynostosis

von Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Veröffentlicht in J Med Genet (2017)

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

von Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke
Veröffentlicht in Am J Hum Genet (2019)

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

von Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola
Veröffentlicht in Am J Hum Genet (2021)

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

von Justice, Cristina M, Cuellar, Araceli, Bala, Krithi, Sabourin, Jeremy A, Cunningham, Michael L, Crawford, Karen, Phipps, Julie M, Zhou, Yan, Cilliers, Deirdre, Byren, Jo C, Johnson, David, Wall, Steven A, Morton, Jenny E V, Noons, Peter, Sweeney, Elizabeth, Weber, Astrid, Rees, Katie E M, Wilson, Louise C, Simeonov, Emil, Kaneva, Radka, Yaneva, Nadezhda, Georgiev, Kiril, Bussarsky, Assen, Senders, Craig, Zwienenberg, Marike, Boggan, James, Roscioli, Tony, Tamburrini, Gianpiero, Barba, Marta, Conway, Kristin, Sheffield, Val C, Brody, Lawrence, Mills, James L, Kay, Denise, Sicko, Robert J, Langlois, Peter H, Tittle, Rachel K, Botto, Lorenzo D, Jenkins, Mary M, LaSalle, Janine M, Lattanzi, Wanda, Wilkie, Andrew O M, Wilson, Alexander F, Romitti, Paul A, Boyadjiev, Simeon A
Veröffentlicht in Hum Genet (2020)

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

von Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.
Veröffentlicht in Hum Mutat (2015)

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

von Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark
Veröffentlicht in Genet Med (2020)

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

von Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.
Veröffentlicht in Am J Hum Genet (2020)

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

von Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Corcoles, Concepcion Sierra, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D’Arrigo, Stefano, De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Bülent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenço, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E.V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Régal, Luc, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.
Veröffentlicht in Am J Med Genet A (2015)