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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025) Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A. Share Save
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A. Share Save
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Konrad, Enrico D. H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Ounap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenael; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Pierpont, Mary Ella; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C. J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja, I; Pietilainen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Pedersen, Katja Venborg; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane Share Save
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype Rice, Laura; Stockdale, Claire; Berry, Ian; O'Riordan, Sean; Pysden, Karen; Anwar, Rashida; Rushambuza, Roger; Blyth, Moira; Srikanth, Sonal; Gwack, Yousang; El-Sherbiny, Yasser M.; Carter, Clive; Savic, Sinisa Share Save
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability Cogne, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slave; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R.; Sanders, Stephan J.; Uguen, Kevin; Harris, Jacqueline; Cohen, Julie S.; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H.; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T.; Humberson, Jennifer B.; Robak, Laurie; Scott, Daryl A.; Sutton, Vernon R.; Skraban, Cara M.; Johnston, Jennifer J.; Poduri, Annapurna; Nordenskjold, Magnus; Shashi, Vandana; Gerkes, Erica H.; Bongers, Ernie M. H. F.; Gilissen, Christian; Zarate, Yuri A.; Kvarnung, Malin; Lally, Kevin P.; Kulch, Peggy A.; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R.; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M.; Klee, Eric W.; Sapp, Julie C.; Zyskind, Jacob; Holla, Oystein L.; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Oyvind L.; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N.; Dewan, Tammie; Akdemir, Zeynep H. Coban; Telegrafi, Aida; Zackai, Elaine H.; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M.; Odent, Sylvie; Bonneau, Dominique; Latypova, Xenia; Deb, Wallid; Redon, Sylvia; Bilan, Frederic; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine, I; Pichurin, Pavel N.; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L.; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G.; Lowenstein, Dan; Posey, Jennifer E.; Denomme-Pichon, Anne-Sophie; Ferec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A.; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Severine; Redon, Richard; Stessman, Holly A. F.; Nellaker, Christoffer; Yang, Yaping; Lupski, James R.; Goldstein, David B.; Eichler, Evan E.; Bolduc, Francois; Bezieau, Stephane; Kury, Sebastien; Campeau, Philippe M. Share Save
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018) Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betul; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E.; Katsanis, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C. Share Save
Cerebral hypomyelination associated with biallelic variants of FIG4 Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul-Fernandez, Miriam; Rodriguez-Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John; Skibina, Olga; Ruddle, Jonathan; Tan, Tiong Y.; Leventer, Richard J.; Livingston, John H.; Meisler, Miriam H. Share Save
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies Hamdan, Fadi F.; Myers, Candace T.; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T.; Rosenfeld, Jill A.; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M.; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R.; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E.; Thomas, Rhys H.; Shelagh, Joss; Hurst, Jane A.; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H.; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K.; Dorison, Sara J.; Benke, Paul J.; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T.; Bruel, Ange-Line; Verloes, Alain; Ounap, Katrin; Wojcik, Monica H.; Albert, Dara V. F.; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S.; Bizargity, Peyman; Bacino, Carlos A.; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J.; Purcarin, Gabriela; O'Byrne, James J.; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, Stephane; Nava, Caroline; Hiatt, Susan M.; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R.; Frye, Richard E.; Jarjour, Imad T.; Jacques, Stephanie; Boucher, Renee-Myriam; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, Francois; D'Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F.; Sadleir, Lynette G.; Campeau, Philippe M.; Kibar, Zoha; Lafreniere, Ronald G.; Girard, Simon L.; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A.; Scheffer, Ingrid E.; Mefford, Heather C.; Andrade, Danielle M.; Rossignol, Elsa; Minassian, Berge A.; Michaud, Jacques L. Share Save
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome Hempel, Annmarie; Pagnamenta, Alistair T.; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C.; Howard, Malcolm F.; Keays, David; Sohal, Aman Singh; Kuehl, Susanne J.; Kini, Usha; McNeill, Alisdair Share Save
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families Akawi, Nadia; McRae, Jeremy; Ansari, Morad; Balasubramanian, Meena; Blyth, Moira; Brady, Angela F.; Clayton, Stephen; Cole, Trevor; Deshpande, Charu; Fitzgerald, Tomas W.; Foulds, Nicola; Francis, Richard; Gabriel, George; Gerety, Sebastian S.; Goodship, Judith; Hobson, Emma; Jones, Wendy D.; Joss, Shelagh; King, Daniel; Klena, Nikolai; Kumar, Ajith; Lees, Melissa; Lelliott, Chris; Lord, Jenny; McMullan, Dominic; O'Regan, Mary; Osio, Deborah; Piombo, Virginia; Prigmore, Elena; Rajan, Diana; Rosser, Elisabeth; Sifrim, Alejandro; Smith, Audrey; Swaminathan, Ganesh J.; Turnpenny, Peter; Whitworth, James; Wright, Caroline F.; Firth, Helen V.; Barrett, Jeffrey C.; Lo, Cecilia W.; FitzPatrick, David R.; Hurles, Matthew E. Share Save
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate Breckpot, Jeroen; Anderlid, Britt-Marie; Alanay, Yasemin; Blyth, Moira; Brahimi, Afane; Duban-Bedu, Benedicte; Goze, Odile; Firth, Helen; Yakicier, Mustafa Cengiz; Hens, Greet; Rayyan, Maissa; Legius, Eric; Vermeesch, Joris Robert; Devriendt, Koen Share Save
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum Banka, Siddharth; Veeramachaneni, Ratna; Reardon, William; Howard, Emma; Bunstone, Sancha; Ragge, Nicola; Parker, Michael J.; Crow, Yanick J.; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Chandler, Kate; Magee, Alex; Stewart, Fiona; McConnell, Vivienne P. M.; Donnelly, Deirdre E.; Berland, Siren; Houge, Gunnar; Morton, Jenny E.; Oley, Christine; Revencu, Nicole; Park, Soo-Mi; Davies, Sally J.; Fry, Andrew E.; Lynch, Sally Ann; Gill, Harinder; Schweiger, Susann; Lam, Wayne W. K.; Tolmie, John; Mohammed, Shehla N.; Hobson, Emma; Smith, Audrey; Blyth, Moira; Bennett, Christopher; Vasudevan, Pradeep C.; Garcia-Minaur, Sixto; Henderson, Alex; Goodship, Judith; Wright, Michael J.; Fisher, Richard; Gibbons, Richard; Price, Susan M.; de Silva, Deepthi C.; Temple, I. Karen; Collins, Amanda L.; Lachlan, Katherine; Elmslie, Frances; McEntagart, Meriel; Castle, Bruce; Clayton-Smith, Jill; Black, Graeme C.; Donnai, Dian Share Save
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