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Small Amounts of Gluten in Subjects With Suspected Nonceliac Gluten Sensitivity: A Randomized, Double-Blind, Placebo-Controlled, Cross-Over Trial
Di Sabatino, Antonio, Volta, Umberto, Salvatore, Chiara, Biancheri, Paolo, Caio, Giacomo, De Giorgio, Roberto, Di Stefano, Michele, Corazza, Gino R.
Published in Clinical gastroenterology and hepatology (01.09.2015)
Published in Clinical gastroenterology and hepatology (01.09.2015)
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De Novo Mutations in Moderate or Severe Intellectual Disability
Hamdan, Fadi F., Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V., Venkateswaran, Sunita, Rouleau, Guy A., Michaud, Jacques L.
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier, Corbett, Mark A., Gecz, Jozef, Nicolet, Charles M., Farnham, Peggy J., Kim, Cheol-Hee, Shinawi, Marwan
Published in American journal of human genetics (07.03.2024)
Published in American journal of human genetics (07.03.2024)
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Carapito, Raphael, Ivanova, Ekaterina L., Morlon, Aurore, Meng, Linyan, Molitor, Anne, Erdmann, Eva, Kieffer, Bruno, Pichot, Angélique, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Tran Mau-Them, Frédéric, Jean-Marçais, Nolwenn, Hiatt, Susan M., Cooper, Gregory M., Tvrdik, Tatiana, Muir, Alison M., Dimartino, Clémantine, Chopra, Maya, Amiel, Jeanne, Gordon, Christopher T., Dutreux, Fabien, Garde, Aurore, Thauvin-Robinet, Christel, Wang, Xia, Leduc, Magalie S., Phillips, Meredith, Crawford, Heather P., Kukolich, Mary K., Hunt, David, Harrison, Victoria, Kharbanda, Mira, Smigiel, Robert, Gold, Nina, Hung, Christina Y., Viskochil, David H., Dugan, Sarah L., Bayrak-Toydemir, Pinar, Joly-Helas, Géraldine, Guerrot, Anne-Marie, Schluth-Bolard, Caroline, Rio, Marlène, Wentzensen, Ingrid M., McWalter, Kirsty, Schnur, Rhonda E., Lewis, Andrea M., Lalani, Seema R., Mensah-Bonsu, Noël, Céraline, Jocelyn, Sun, Zijie, Ploski, Rafal, Bacino, Carlos A., Mefford, Heather C., Faivre, Laurence, Bodamer, Olaf, Chelly, Jamel, Isidor, Bertrand, Bahram, Seiamak
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Defective thyroid hormone transport to the brain leads to astroglial alterations
Guillén-Yunta, Marina, García-Aldea, Ángel, Valcárcel-Hernández, Víctor, Sanz-Bógalo, Ainara, Muñoz-Moreno, Emma, Matheus, Maria Gisele, Grijota-Martínez, Carmen, Montero-Pedrazuela, Ana, Guadaño-Ferraz, Ana, Bárez-López, Soledad
Published in Neurobiology of disease (01.10.2024)
Published in Neurobiology of disease (01.10.2024)
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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
Marom, Ronit, Burrage, Lindsay C., Venditti, Rossella, Clément, Aurélie, Blanco-Sánchez, Bernardo, Jain, Mahim, Scott, Daryl A., Rosenfeld, Jill A., Sutton, V. Reid, Shinawi, Marwan, Mirzaa, Ghayda, DeVile, Catherine, Roberts, Rowenna, Calder, Alistair D., Allgrove, Jeremy, Grafe, Ingo, Lanza, Denise G., Li, Xiaohui, Joeng, Kyu Sang, Lee, Yi-Chien, Song, I-Wen, Sliepka, Joseph M., Batkovskyte, Dominyka, Washington, Megan, Dawson, Brian C., Jin, Zixue, Jiang, Ming-Ming, Chen, Shan, Chen, Yuqing, Tran, Alyssa A., Emrick, Lisa T., Murdock, David R., Hanchard, Neil A., Zapata, Gladys E., Mehta, Nitesh R., Weis, Mary Ann, Scott, Abbey A., Tremp, Brenna A., Phillips, Jennifer B., Wegner, Jeremy, Taylor-Miller, Tashunka, Gibbs, Richard A., Muzny, Donna M., Jhangiani, Shalini N., Hicks, John, Stottmann, Rolf W., Dickinson, Mary E., Seavitt, John R., Heaney, Jason D., Eyre, David R., Westerfield, Monte, De Matteis, Maria Antonietta, Lee, Brendan
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
Kanca, Oguz, Andrews, Jonathan C., Patel, Chirag, Slavotinek, Anne M., Williams, Judy, Indaram, Maanasa, Lau, C. Christopher, Adams, David R., Agrawal, Pankaj, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Bick, David P., Bohnsack, John, Briere, Lauren C., Carey, John, Cogan, Joy D., Cole, F. Sessions, D'Souza, Precilla, Dayal, Jyoti G., Dorset, Daniel C., Douine, Emilie D., Draper, David D., Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Fresard, Laure, Godfrey, Rena A., Goldman, Alica M., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Huang, Alden, Huang, Yong, Jones, Angela L., Krasnewich, Donna M., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Levy, Shawn E., Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Markello, Thomas C., Marth, Gabor, McConkie-Rosell, Allyn, Might, Matthew, Morimoto, Marie, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rosenfeld, Jill A., Ruzhnikov, Maura, Samson, Susan L., Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Sillari, Catherine H., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stong, Nicholas, Sweetser, David A., Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Wang, Lee-kai, Wangler, Michael F., Wegner, Daniel, Wolfe, Lynne A., Worthey, Elizabeth A., Yu, Guoyun, Zhao, Chunli, Chung, Wendy K., Dobyns, William B., Adams, David R., Gahl, William A., Malicdan, May Christine V.
Published in American journal of human genetics (01.08.2019)
Published in American journal of human genetics (01.08.2019)
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Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism
Espinoza, Francisca, Carrazana, Ramón, Retamal-Fredes, Eduardo, Ávila, Denisse, Papes, Fabio, Muotri, Alysson R., Ávila, Ariel
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2024)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2024)
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Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome
Feresin, Agnese, Spedicati, Beatrice, Zampieri, Stefania, Morgan, Anna, Magnolato, Andrea, Tesser, Alessandra, Tommasini, Alberto, Bonati, Maria Teresa, Girotto, Giorgia, Faletra, Flavio
Published in American journal of medical genetics. Part A (01.04.2025)
Published in American journal of medical genetics. Part A (01.04.2025)
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LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
Gana, Simone, Di Biagio, Marta, Carraro, Laura, Rossetto, Gloria, Scarpelli, Laura, Scognamillo, Ilaria, Valente, Enza Maria, Signorini, Sabrina
Published in American journal of medical genetics. Part A (01.10.2024)
Published in American journal of medical genetics. Part A (01.10.2024)
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PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives
Saracino, Annalisa, Totaro, Martina, Politano, Davide, DE Giorgis, Valentina, Gana, Simone, Papalia, Grazia, Pichiecchio, Anna, Plumari, Massimo, Rognone, Elisa, Varesio, Costanza, Orcesi, Simona
Published in Neuropediatrics (01.04.2024)
Published in Neuropediatrics (01.04.2024)
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Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review
Romano, Ferruccio, Haanpää, Maria K., Pomianowski, Pawel, Peraino, Amanda Rose, Pollard, John R., Di Feo, Maria Francesca, Traverso, Monica, Severino, Mariasavina, Derchi, Maria, Henzen, Edoardo, Zara, Federico, Faravelli, Francesca, Capra, Valeria, Scala, Marcello
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Contrò, Gianluca, Baroni, Maria Chiara, Caraffi, Stefano Giuseppe, Napoli, Manuela, Artuso, Rosangela, Giliberti, Annarita, Bargiacchi, Sara, Mancano, Giorgia, Traficante, Giovanna, Mucciolo, Mafalda, Radio, Francesca Clementina, Cordeddu, Viviana, Mancini, Cecilia, Bottillo, Irene, Pirro, Federica Anna, Bonati, Maria Teresa, Becker, Cord‐Christian, Carli, Diana, Mussa, Alessandro, Gonzalez, Maria Isis Atallah, Ruiz‐Arana, Inge Lore, Kumps, Camille, Maystadt, Isabelle, Moortgat, Stephanie, Peker, Alp, Piccione, Maria, Grammatico, Paola, Rostomashvili, Nino, Lévy, Jonathan, Scala, Marcello, Capra, Valeria, Torella, Annalaura, Eyk, Clare, Isidor, Bertrand, Cogne, Benjamin, Srivastava, Siddharth, Quinlan, Aisling, Vaisfeld, Alessandro, Licchetta, Laura, Frattini, Daniele, Graziano, Claudio, Severi, Giulia, Bacchi, Isabelle, Soliani, Luca, Sherr, Elliott H., Argilli, Emanuela, Goel, Himanshu, De Luca, Chiara, Leonardi, Silvia, Brancati, Francesco, Faletra, Flavio, Mio, Catia, Braibanti, Silvia, Gargano, Giancarlo, Fusco, Carlo, Novelli, Antonio, Tartaglia, Marco, Garavelli, Livia
Published in Clinical genetics (01.08.2025)
Published in Clinical genetics (01.08.2025)
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Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza
Published in European journal of human genetics : EJHG (01.08.2021)
Published in European journal of human genetics : EJHG (01.08.2021)
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Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Amenta, Simona, Frangella, Silvia, Marangi, Giuseppe, Lattante, Serena, Ricciardi, Stefania, Doronzio, Paolo Niccolò, Orteschi, Daniela, Veredice, Chiara, Contaldo, Ilaria, Zampino, Giuseppe, Gentile, Mattia, Scarano, Emanuela, Graziano, Claudio, Zollino, Marcella
Published in Journal of medical genetics (01.02.2022)
Published in Journal of medical genetics (01.02.2022)
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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
Ivanova, Ekaterina L., Mau-Them, Frédéric Tran, Riazuddin, Saima, Kahrizi, Kimia, Laugel, Vincent, Schaefer, Elise, de Saint Martin, Anne, Runge, Karen, Iqbal, Zafar, Spitz, Marie-Aude, Laura, Mary, Drouot, Nathalie, Gérard, Bénédicte, Deleuze, Jean-François, de Brouwer, Arjan P.M., Razzaq, Attia, Dollfus, Hélène, Assir, Muhammad Zaman, Nitchké, Patrick, Hinckelmann, Maria-Victoria, Ropers, Hilger, Riazuddin, Sheikh, Najmabadi, Hossein, van Bokhoven, Hans, Chelly, Jamel
Published in American journal of human genetics (07.09.2017)
Published in American journal of human genetics (07.09.2017)
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Differential DNA Methylation and Expression of miRNAs in Adipose Tissue From Twin Pairs Discordant for Type 2 Diabetes
Nilsson, Emma, Vavakova, Magdalena, Perfilyev, Alexander, Säll, Johanna, Jansson, Per-Anders, Poulsen, Pernille, Esguerra, Jonathan Lou S., Eliasson, Lena, Vaag, Allan, Göransson, Olga, Ling, Charlotte
Published in Diabetes (New York, N.Y.) (01.10.2021)
Published in Diabetes (New York, N.Y.) (01.10.2021)
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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype
Niceta, Marcello, Pizzi, Simone, Inzana, Francesca, Peron, Angela, Bakhtiari, Somayeh, Nizon, Mathilde, Levy, Jonathan, Mancini, Cecilia, Cogné, Benjamin, Radio, Francesca Clementina, Agolini, Emanuele, Cocciadiferro, Dario, Novelli, Antonio, Salih, Mustafa A., Recalcati, Maria Paola, Arancio, Rosangela, Besnard, Marianne, Tabet, Anne‐Claude, Kruer, Michael C., Priolo, Manuela, Dallapiccola, Bruno, Tartaglia, Marco
Published in Clinical genetics (01.02.2023)
Published in Clinical genetics (01.02.2023)
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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H., Burke, Katherine B., Khan, Naz, Chandler, Kate E., Cooper, Nicola S., Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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