![[höher]](/style/images/multi_up.png)
Eine Ebene höherGruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 15
Zeitschriftenartikel
Blackburn, Patrick R.; Ebstein, Frédéric; Hsieh, Tzung‐Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent‐Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann‐Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne‐Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau‐Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger 
ORCID: https://orcid.org/0000-0003-2379-6286; Necpál, Ján; Jech, Robert; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan ORCID: https://orcid.org/0000-0003-1329-4100; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner‐Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P.A.; van der Schoot, Vyne; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, René G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez‐Lara, Pedro A.; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco ORCID: https://orcid.org/0000-0001-7736-9672; Küry, Sébastien und Wang, Tianyun ORCID: https://orcid.org/0000-0002-5179-087X
(2024):
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
In: Annals of Neurology [Forthcoming]
ORCID: https://orcid.org/0000-0003-2379-6286; Necpál, Ján; Jech, Robert; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan ORCID: https://orcid.org/0000-0003-1329-4100; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner‐Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P.A.; van der Schoot, Vyne; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, René G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez‐Lara, Pedro A.; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco ORCID: https://orcid.org/0000-0001-7736-9672; Küry, Sébastien und Wang, Tianyun ORCID: https://orcid.org/0000-0002-5179-087X
(2024):
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
In: Annals of Neurology [Forthcoming]
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Angeles Garcia; Jang, Se Song; Julia-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Cali, Tito; Brini, Marisa und Zech, Michael
(2023):
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
In: Genetics in Medicine, Bd. 25, Nr. 12, 100971
Smallwood, Kelly; Watt, Kristin E. N.; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P.; Begtrup, Amber; Bertola, Debora R.; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R.; Sacoto, Maria J. Guillen; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A.; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J.; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L.; Slavotinek, Anne; Sullivan, Bonnie R.; Stark, Zornitza; Symonds, Joseph D.; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M.; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W.; Trainor, Paul A. und Weaver, K. Nicole
(2023):
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
In: American Journal of Human Genetics, Bd. 110, Nr. 5: S. 809-825
Kreienkamp, Hans-Juergen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-Francois; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Löbel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M. und Lessel, Davor
(2022):
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
In: Human Genetics, Bd. 141, Nr. 2: S. 257-272
Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin, Chao; Hull, Brooke; Pei-Tseng, Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu, Huang; Longley, Colleen M.; Hsiao-Tua0n, Chao; Hyung-lok, Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; Dooren, Marieke F. van; Wilke, MartinaSlegtenhorst; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F. und Yamamoto, Shinya
(2022):
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
In: Cell Reports, Bd. 38, Nr. 11, 110517
Holtz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb und Raby, Benjamin A.
(2022):
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2065-2078
Bolsterli, Bigna K.; Boltshauser, Eugen; Palmieri, Luigi; Spenger, Johannes; Brunner-Krainz, Michaela; Distelmaier, Felix; Freisinger, Peter; Geis, Tobias; Gropman, Andrea L.; Haberle, Johannes; Hentschel, Julia; Jeandidier, Bruno; Karall, Daniela; Keren, Boris; Klabunde-Cherwon, Annick; Konstantopoulou, Vassiliki; Kottke, Raimund; Lasorsa, Francesco M.; Makowski, Christine; Mignot, Cyril; Tuura, Ruth O'Gorman; Porcelli, Vito; Santer, Rene; Sen, Kuntal; Steinbruecker, Katja; Syrbe, Steffen; Wagner, Matias; Ziegler, Andreas; Zoeggeler, Thomas; Mayr, Johannes A.; Prokisch, Holger und Wortmann, Saskia B.
(2022):
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
In: Nutrients, Bd. 14, Nr. 17, 3605
Vermehren-Schmaedick, Anke; Huang, Jeffrey Y.; Levinson, Madison; Pomaville, Matthew B.; Reed, Sarah; Bellus, Gary A.; Gilbert, Fred; Keren, Boris; Heron, Delphine; Haye, Damien; Janello, Christine; Makowski, Christine; Danhauser, Katharina; Fedorov, Lev M.; Haack, Tobias B.; Wright, Kevin M. und Cohen, Michael S.
(2021):
Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.
In: Cells, Bd. 10, Nr. 6, 1289
Schalk, Audrey; Cousin, Margot A.; Dsouza, Nikita R.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien ORCID: https://orcid.org/0000-0002-3457-5684; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna ORCID: https://orcid.org/0000-0001-7314-5962; Gabau, Elizabeth; Stolerman, Elliot ORCID: https://orcid.org/0000-0001-9536-4621; Washington, Camerun; Louie, Ray; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, Micheil; Kooy, Frank ORCID: https://orcid.org/0000-0003-2024-0485; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois ORCID: https://orcid.org/0000-0002-9110-1856; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J; Zweier, Christiane; Reis, André ORCID: https://orcid.org/0000-0002-6301-6363; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine ORCID: https://orcid.org/0000-0002-0242-4566; Mignot, Cyril; Gassen, Koen van; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H.; Rudy, Natasha L.; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic ORCID: https://orcid.org/0000-0002-3795-9456; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T.; Klee, Eric W. ORCID: https://orcid.org/0000-0003-2946-5795; Piton, Amelie ORCID: https://orcid.org/0000-0003-0408-7468 und Gerard, Benedicte
(2021):
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 965-975
ORCID: https://orcid.org/0000-0002-3457-5684; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna ORCID: https://orcid.org/0000-0001-7314-5962; Gabau, Elizabeth; Stolerman, Elliot ORCID: https://orcid.org/0000-0001-9536-4621; Washington, Camerun; Louie, Ray; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, Micheil; Kooy, Frank ORCID: https://orcid.org/0000-0003-2024-0485; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois ORCID: https://orcid.org/0000-0002-9110-1856; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J; Zweier, Christiane; Reis, André ORCID: https://orcid.org/0000-0002-6301-6363; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine ORCID: https://orcid.org/0000-0002-0242-4566; Mignot, Cyril; Gassen, Koen van; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H.; Rudy, Natasha L.; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic ORCID: https://orcid.org/0000-0002-3795-9456; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T.; Klee, Eric W. ORCID: https://orcid.org/0000-0003-2946-5795; Piton, Amelie ORCID: https://orcid.org/0000-0003-0408-7468 und Gerard, Benedicte
(2021):
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 965-975
Dzinovic, Ivana; Skorvanek, Matej; Pavelekova, Petra; Zhao, Chen; Keren, Boris; Whalen, Sandra; Bakhtiari, Somayeh; Chih Jin, Sheng; Kruer, Michael C.; Jech, Robert; Winkelmann, Juliane und Zech, Michael
(2021):
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
In: Annals of Clinical and Translational Neurology, Bd. 8, Nr. 4: S. 951-955
[PDF, 248kB]
Kloeckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; Boogaard, Marie-Jose van den; Crabben, Saskia N. van der; Gassen, Koen L. I. van; Jaarsveld, Richard H. van; Ziffle, Jessica van; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R. und Platzer, Konrad
(2020):
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
In: Genetics in Medicine, Bd. 23, Nr. 4: S. 653-660
Jolly, Lachlan A.; Parnell, Euan; Gardner, Alison E.; Corbett, Mark A.; Perez-Jurado, Luis A.; Shaw, Marie; Lesca, Gaetan; Keegan, Catherine; Schneider, Michael C.; Griffin, Emily; Maier, Felicitas; Kiss, Courtney; Guerin, Andrea; Crosby, Kathleen; Rosenbaum, Kenneth; Tanpaiboon, Pranoot; Whalen, Sandra; Keren, Boris; McCarrier, Julie; Basel, Donald; Sadedin, Simon; White, Susan M.; Delatycki, Martin B.; Kleefstra, Tjitske; Kury, Sebastien; Brusco, Alfredo; Sukarova-Angelovska, Elena; Trajkova, Slavica; Yoon, Sehoun; Wood, Stephen A.; Piper, Michael; Penzes, Peter und Gecz, Jozef
(2020):
Missense variant contribution to USP9X-female syndrome.
In: Npj Genomic Medicine, Bd. 5, Nr. 1, 53
Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J.
(2020):
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
In: Science Advances, Bd. 6, Nr. 49, eabc9207
[PDF, 703kB]
Diets, Illja J.; van der Donk, Roos; Baltrunaite, Kristina; Waanders, Esme; Reijnders, Margot R. F.; Dingemans, Alexander J. M.; Pfundt, Rolph; Vulto-van Silfhout, Anneke T.; Wiel, Laurens; Gilissen, Christian; Thevenon, Julien; Perrin, Laurence; Afenjar, Alexandra; Nava, Caroline; Keren, Boris; Bartz, Sarah; Peri, Bethany; Beunders, Gea; Verbeek, Nienke; van Gassen, Koen; Thiffault, Isabelle; Cadieux-Dion, Maxime; Huerta-Saenz, Lina; Wagner, Matias; Konstantopoulou, Vassiliki; Vodopiutz, Julia; Griese, Matthias; Boel, Annekatrien; Callewaert, Bert; Brunner, Han G.; Kleefstra, Tjitske; Hoogerbrugge, Nicoline; de Vries, Bert B. A.; Hwa, Vivian; Dauber, Andrew; Hehir-Kwa, Jayne Y.; Kuiper, Roland P. und Jongmans, Marjolijn C. J.
(2019):
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
In: American Journal of Human Genetics, Bd. 104, Nr. 4: S. 758-766
Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten und Senderek, Jan
(2018):
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
In: EMBO Journal, Bd. 37, Nr. 23, e100540