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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity Kalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan Share Save
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Real-world glycated haemoglobin changes among type 2 diabetes mellitus patients treated with a maintenance dose of 7 mg or 14 mg of oral semaglutide Swift, Caroline; Frazer, Monica; Gronroos, Noelle N.; Sargent, Andrew; Leszko, Michael; Buysman, Erin; Alvarez, Sara; Dunn, Tyler J.; Noone, Josh; Guevarra, Mico Share Save
Real-World Hemoglobin A1c Changes, Prescribing Provider Types, and Medication Dose Among Patients with Type 2 Diabetes Mellitus Initiating Treatment with Oral Semaglutide Frazer, Monica; Swift, Caroline; Gronroos, Noelle N.; Sargent, Andrew; Leszko, Michael; Buysman, Erin; Alvarez, Sara; Dunn, Tyler J.; Noone, Josh; Guevarra, Mico Share Save
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients Martinez-Cayuelas, Elena; Blanco-Kelly, Fiona; Lopez-Grondona, Fermina; Swafiri, Saoud Tahsin; Lopez-Rodriguez, Rosario; Losada-Del Pozo, Rebeca; Mahillo-Fernandez, Ignacio; Moreno, Beatriz; Rodrigo-Moreno, Maria; Casas-Alba, Didac; Lopez-Gonzalez, Aitor; Garcia-Minaur, Sixto; Mori, Maria Angeles; Pacio-Minguez, Marta; Rikeros-Orozco, Emi; Santos-Simarro, Fernando; Cruz-Rojo, Jaime; Quesada-Espinosa, Juan Francisco; Sanchez-Calvin, Maria Teresa; Sanchez-Del Pozo, Jaime; Fonz, Raquel Bernado; Isidoro-Garcia, Maria; Ruiz-Ayucar, Irene; Alvarez-Mora, Maria Isabel; Blanco-Lago, Raquel; De Azua, Begona; Eiris, Jesus; Garcia-Penas, Juan Jose; Gil-Fournier, Belen; Gomez-Lado, Carmen; Irazabal, Nadia; Lopez-Gonzalez, Vanessa; Madrigal, Irene; Malaga, Ignacio; Martinez-Menendez, Beatriz; Ramiro-Leon, Soraya; Garcia-Hoyos, Maria; Prieto-Matos, Pablo; Lopez-Pison, Javier; Aguilera-Albesa, Sergio; Alvarez, Sara; Fernandez-Jaen, Alberto; Llano-Rivas, Isabel; Gener-Querol, Blanca; Ayuso, Carmen; Arteche-Lopez, Ana; Palomares-Bralo, Maria; Cueto-Gonzalez, Anna; Valenzuela, Irene; Martinez-Monseny, Antonio; Lorda-Sanchez, Isabel; Almoguera, Berta Share Save
GIGYF1 disruption associates with autism and impaired IGF-1R signaling Chen, Guodong; Yu, Bin; Tan, Senwei; Tan, Jieqiong; Jia, Xiangbin; Zhang, Qiumeng; Zhang, Xiaolei; Jiang, Qian; Hua, Yue; Han, Yaoling; Luo, Shengjie; Hoekzema, Kendra; Bernier, Raphael A.; Earl, Rachel K.; Kurtz-Nelson, Evangeline C.; Idleburg, Michaela J.; Madan-Khetarpal, Suneeta; Clark, Rebecca; Sebastian, Jessica; Fernandez-Jaen, Alberto; Alvarez, Sara; King, Staci D.; Ramos, Luiza L. P.; Santos, Mara Lucia S. F.; Martin, Donna M.; Brooks, Dan; Symonds, Joseph D.; Cutcutache, Ioana; Pan, Qian; Hu, Zhengmao; Yuan, Ling; Eichler, Evan E.; Xia, Kun; Guo, Hui Share Save
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna Share Save
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders Francisco-Velilla, Rosario; Embarc-Buh, Azman; del Cano-Ochoa, Francisco; Abellan, Salvador; Vilar, Marcal; Alvarez, Sara; Fernandez-Jaen, Alberto; Kour, Sukhleen; Rajan, Deepa S.; Pandey, Udai Bhan; Ramon-Maiques, Santiago; Martinez-Salas, Encarnacion Share Save
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Motta, Marialetizia; Pannone, Luca; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Cecchetti, Serena; Ciolfi, Andrea; Di Rocco, Martina; Elting, Mariet W.; Brilstra, Eva H.; Boni, Stefania; Mazzanti, Laura; Tamburrino, Federica; Walsh, Larry; Payne, Katelyn; Fernandez-Jaen, Alberto; Ganapathi, Mythily; Chung, Wendy K.; Grange, Dorothy K.; Dave-Wala, Ashita; Reshmi, Shalini C.; Bartholomew, Dennis W.; Mouhlas, Danielle; Carpentieri, Giovanna; Bruselles, Alessandro; Pizzi, Simone; Bellacchio, Emanuele; Piceci-Sparascio, Francesca; Lissewski, Christina; Brinkmann, Julia; Waclaw, Ronald R.; Waisfisz, Quinten; van Gassen, Koen; Wentzensen, Ingrid M.; Morrow, Michelle M.; Alvarez, Sara; Martinez-Garcia, Monica; De Luca, Alessandro; Memo, Luigi; Zampino, Giuseppe; Rossi, Cesare; Seri, Marco; Gelb, Bruce D.; Zenker, Martin; Dallapiccola, Bruno; Stella, Lorenzo; Prada, Carlos E.; Martinelli, Simone; Flex, Elisabetta; Tartaglia, Marco Share Save
A Novel Approach for the Identification of Pharmacogenetic Variants inMT-RNR1through Next-Generation Sequencing Off-Target Data Lanillos, Javier; Santos, Maria; Carcajona, Marta; Roldan-Romero, Juan Maria; Martinez, Angel M.; Calsina, Bruna; Monteagudo, Maria; Leandro-Garcia, Luis Javier; Montero-Conde, Cristina; Cascon, Alberto; Maietta, Paolo; Alvarez, Sara; Robledo, Mercedes; Rodriguez-Antona, Cristina Share Save
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients Tenorio, Jair; Alarcon, Pablo; Arias, Pedro; Dapia, Irene; Garcia-Minaur, Sixto; Bralo, Maria Palomares; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio; Monseny, Antonio Martinez; Grondona, Fermina Lopez; Botet, Javier; Serrano, Mercedes; Solis, Mario; Santos-Simarro, Fernando; Alvarez, Sara; Teixido-Tura, Gisela; Jaen, Alberto Fernandez; Gordo, Gema; Rivera, Maria Belen Bardon; Nevado, Julian; Hernandez, Alicia; Cigudosa, Juan C.; Ruiz-Perez, Victor L.; Tizzano, Eduardo F.; Lapunzina, Pablo Share Save
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly Yang, Rui; Walder-Christensen, Kathryn K.; Lalani, Samir; Yan, Haidun; Diez Garcia-Prieto, Irene; Alvarez, Sara; Fernandez-Jaen, Alberto; Speltz, Laura; Jiang, Yong-Hui; Bennett, Vann Share Save
Chronic lymphocytic leukemia with isochromosome 17q: An aggressive subgroup associated with TP53 mutations and complex karyotypes Collado, Rosa; Puiggros, Anna; Antonio Lopez-Guerrero, Jose; Jose Calasanz, Ma; Jose Larrayoz, Ma; Ivars, David; Garcia-Casado, Zaida; Abella, Eugenia; Teresa Orero, Ma; Talavera, Elisabet; Carla Oliveira, Ana; Ma Hernandez-Rivas, Jesus; Hernandez-Sanchez, Maria; Luno, Elisa; Valiente, Alberto; Grau, Javier; Portal, Inmaculada; Gardella, Santiago; Camino Salgado, Anna; Teresa Gimenez, Ma; Teresa Ardanaz, Ma; Campeny, Andrea; Julio Hernandez, Jose; Alvarez, Sara; Espinet, Blanca; Carbonell, Felix Share Save
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The molecular pathogenesis of the NUP98-HOXA9 fusion protein in acute myeloid leukemia Rio-Machin, A.; Gomez-Lopez, G.; Munoz, J.; Garcia-Martinez, F.; Maiques-Diaz, A.; Alvarez, S.; Salgado, R. N.; Shrestha, M.; Torres-Ruiz, R.; Haferlach, C.; Larrayoz, M. J.; Calasanz, M. J.; Fitzgibbon, J.; Cigudosa, J. C. Share Save
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