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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina 分享 收藏
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Comparison of the ABC and ACMG systems for variant classification Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Zukauskaite, Gabriele; Sansovic, Ivona; Brea-Fernandez, Alejandro J.; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L.; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M.; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjorn Ivar; Lorans, Marie; Roomere, Hanno; Petit, Francois M.; Haanpaa, Maria K.; Beneteau, Claire; Perez, Belen; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I.; Stephanou, Coralea; Sjursen, Wenche; Maver, Ales; Rouzier, Cecile; Chirita-Emandi, Adela; Goncalves, Joao; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T.; Laner, Andreas 分享 收藏
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Russo, Rossana Sanchez; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux -Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjorg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E.; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D.; Corona, Rosario I.; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K.; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordona, Christopher T. 分享 收藏
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio 分享 收藏
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling Hirschenberger, Maximilian; Lepelley, Alice; Rupp, Ulrich; Klute, Susanne; Hunszinger, Victoria; Koepke, Lennart; Merold, Veronika; Didry-Barca, Blaise; Wondany, Fanny; Bergner, Tim; Moreau, Tatiana; Rodero, Mathieu P.; Roesler, Reinhild; Wiese, Sebastian; Volpi, Stefano; Gattorno, Marco; Papa, Riccardo; Lynch, Sally-Ann; Haug, Marte G.; Houge, Gunnar; Wigby, Kristen M.; Sprague, Jessica; Lenberg, Jerica; Read, Clarissa; Walther, Paul; Michaelis, Jens; Kirchhoff, Frank; Mann, Carina C. de Oliveira; Crow, Yanick J.; Sparrer, Konstantin M. J. 分享 收藏
A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia Cristea, Ileana; Abarca, Hugo; Christensen Mellgren, Anne E.; Trubnykova, Milana; Mehrasa, Roya; Peters, Dorien J. M.; Houge, Gunnar; Hennekam, Raoul C. M.; Rodahl, Eyvind; Bruland, Ove; Bredrup, Cecilie 分享 收藏
Recommendations for whole genome sequencing in diagnostics for rare diseases Souche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin; Eck, Sebastian H.; van eer Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G.; Weiss, Marjan M. 分享 收藏
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions Lybaek, Helle; Robson, Michael; de Leeuw, Nicole; Hehir-Kwa, Jayne Y.; Jeffries, Aaron; Haukanes, Bjorn Ivar; Berland, Siren; de Bruijn, Diederik; Mundlos, Stefan; Spielmann, Malte; Houge, Gunnar 分享 收藏
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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes 面对Janus的EPHB4-associated疾病: 新的致病变异和未报告的家族性重叠表型 Martin-Almedina, Silvia; Ogmen, Kazim; Sackey, Ege; Grigoriadis, Dionysios; Karapouliou, Christina; Nadarajah, Noeline; Ebbing, Cathrine; Lord, Jenny; Mellis, Rhiannon; Kortuem, Fanny; Dinulos, Mary Beth; Polun, Cassandra; Bale, Sherri; Atton, Giles; Robinson, Alexandra; Reigstad, Hallvard; Houge, Gunnar; von der Wense, Axel; Becker, Wolf-Henning; Jeffery, Steve; Mortimer, Peter S.; Gordon, Kristiana; Josephs, Katherine S.; Robart, Sarah; Kilby, Mark D.; Vallee, Stephanie; Gorski, Jerome L.; Hempel, Maja; Berland, Siren; Mansour, Sahar; Ostergaard, Pia 分享 收藏
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes (Apr, 10.1038/s41436-021-01136-7, 2021) 面对Janus的EPHB4-associated疾病: 新的致病变异和未报告的家族性重叠表型 (4月，10.1038/s41436-021-01136-7，2021) Martin-Almedina, Silvia; Ogmen, Kazim; Sackey, Ege; Grigoriadis, Dionysios; Karapouliou, Christina; Nadarajah, Noeline; Ebbing, Cathrine; Lord, Jenny; Mellis, Rhiannon; Kortuem, Fanny; Dinulos, Mary Beth; Polun, Cassandra; Bale, Sherri; Atton, Giles; Robinson, Alexandra; Reigstad, Hallvard; Houge, Gunnar; von der Wense, Axel; Becker, Wolf-Henning; Jeffery, Steve; Mortimer, Peter S.; Gordon, Kristiana; Josephs, Katherine S.; Robart, Sarah; Kilby, Mark D.; Vallee, Stephanie; Gorski, Jerome L.; Hempel, Maja; Berland, Siren; Mansour, Sahar; Ostergaard, Pia 分享 收藏
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction PPP2R1A-related神经发育障碍的广泛表型谱与生化功能障碍的程度相关 Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, Veerle 分享 收藏
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions Bredrup, Cecilie; Cristea, Ileana; Abu Safieh, Leen; Di Maria, Emilio; Gjertsen, Bjorn Tore; Tveit, Kare Steinar; Thu, Frode; Bull, Nils; Edward, Deepak P.; Hennekam, Raoul C. M.; Hovding, Gunnar; Haugen, Olav H.; Houge, Gunnar; Rodahl, Eyvind; Bruland, Ove 分享 收藏
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Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren; Helgeland, Oyvind; Knudsen, Gun Peggy; Vaudel, Marc; Haavik, Jan; Knappskog, Per Morten; Njolstad, Pal Rasmus; Houge, Gunnar; Johansson, Stefan 分享 收藏
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