Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome von Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortüm, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmüller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C., Lin, Zhimiao

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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism von Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.

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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders von May, Halie J., Jeong, Jaehoon, Revah-Politi, Anya, Cohen, Julie S., Chassevent, Anna, Baptista, Julia, Baugh, Evan H., Bier, Louise, Bottani, Armand, Te Carminho A. Rodrigues, Maria resa, Conlon, Charles, Fluss, Joel, Guipponi, Michel, Kim, Chong Ae, Matsumoto, Naomichi, Person, Richard, Primiano, Michelle, Rankin, Julia, Shinawi, Marwan, Smith-Hicks, Constance, Telegrafi, Aida, Toy, Samantha, Uchiyama, Yuri, Aggarwal, Vimla, Goldstein, David B., Roche, Katherine W., Anyane-Yeboa, Kwame

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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother von Lambert, Nelle, Dauve, Corinne, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico, Sloan-Béna, Frédérique, Gimelli, Stefania, Blouin, Jean-Louis, Guipponi, Michel, Bottani, Armand, Antonarakis, Stylianos E, Kosel, Markus M, Fluss, Joel, Paoloni-Giacobino, Ariane

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Clinicopathologic and Molecular Analysis of a Choroidal Pigmented Schwannoma in the Context of a PTEN Hamartoma Tumor Syndrome von Venturini, Giulia, MSc, Moulin, Alexandre P., MD, Deprez, Manuel, MD, PhD, Uffer, Sylvie, MD, Bottani, Armand, MD, Zografos, Leonidas, MD, Rivolta, Carlo, PhD

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Nicolaides-Baraitser syndrome: Delineation of the phenotype von Sousa, Sérgio B., Abdul-Rahman, Omar A., Bottani, Armand, Cormier-Daire, Valérie, Fryer, Alan, Gillessen-Kaesbach, Gabriele, Horn, Denise, Josifova, Dragana, Kuechler, Alma, Lees, Melissa, MacDermot, Kay, Magee, Alex, Morice-Picard, Fanny, Rosser, Elizabeth, Sarkar, Ajoy, Shannon, Nora, Stolte-Dijkstra, Irene, Verloes, Alain, Wakeling, Emma, Wilson, Louise, Hennekam, Raoul C.M.

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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother von Dayer, Alexandre G., Bottani, Armand, Bouchardy, Isabelle, Fluss, Joel, Antonarakis, Stylianos E., Haenggeli, Charles-Antoine, Morris, Michael A.

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Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation von Calinescu-Tuleasca, Ana-Maria, Bottani, Armand, Rougemont, Anne-Laure, Birraux, Jacques, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Girardin, Eric, Belli, Dominique, Wildhaber, Barbara E.

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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy von Lalioti, Maria D., Scott, Hamish S., Buresi, Catherine, Rossier, Colette, Bottani, Armand, Morris, Michael A., Malafosse, Alain, Antonarakis, Stylianos E.

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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms von Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes Alexander, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle

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Prenatal diagnostic indicators of paternal uniparental disomy 14 von Curtis, Logos, Antonelli, Eric, Vial, Yvan, Rimensberger, Peter, Le Merrer, Martine, Hinard, Christine, Bottani, Armand, Fokstuen, Siv

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus von Jacquemont, Sébastien, Reymond, Alexandre, Walters, Robin G., Kutalik, Zoltán, Valsesia, Armand, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, de Vries, Bert B. A., Esko, Tõnu, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Frank Kooy, R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Wu, Bai-lin, Yu, Yongguo, Addor, Marie-Claude, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bergmann, Sven, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Brunner, Han G., Cailley, Dorothée, Chrast, Jacqueline, Coutton, Charles, Cuisset, Jean-Marie, de Freminville, Bénédicte, Demeer, Bénédicte, Descamps, Dominique, Disciglio, Vittoria, Doco-Fenzy, Martine, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Faivre, Laurence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Hartikainen, Anna-Liisa, Heron, Délphine, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Legallic, Solenn, Lewis, Suzanne, Lucas, Josette, MacDermot, Kay D., Marshall, Christian, McCarthy, Mark I., Meitinger, Thomas, Merla, Giuseppe, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Plessis, Ghislaine, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Roetzer, Katharina M., Rooryck, Caroline, Schurmann, Claudia, Stavropoulos, Dimitri J., Tengström, Carola, Tinahones, Francisco J., Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Andrieux, Joris, Estivill, Xavier, Gusella, James F., Stefansson, Kari, Beckmann, Jacques S., Froguel, Philippe

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Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology von Vaclavik, Veronika, Navarro, Aurelie, Jacot-Guillarmod, Alain, Bottani, Armand, Sun, Young Joo, Franco, Joel A., Mahajan, Vinit B., Smirnov, Vasily, Bouvet-Drumare, Isabelle

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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy von Humbert, Jonathan, Salian, Smrithi, Makrythanasis, Periklis, Lemire, Gabrielle, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Alasiri, Rami, Bottani, Armand, Hanquinet, Sylviane, Beaver, Erin, Heeley, Jennifer, Smith, Ann C.M., Berger, Seth I., Antonarakis, Stylianos E., Yang, Xiang-Jiao, Côté, Jacques, Campeau, Philippe M.

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EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO von Skopkova, Martina, Hennig, Friederike, Shin, Byung‐Sik, Turner, Clesson E., Stanikova, Daniela, Brennerova, Katarina, Stanik, Juraj, Fischer, Ute, Henden, Lyndal, Müller, Ulrich, Steinberger, Daniela, Leshinsky‐Silver, Esther, Bottani, Armand, Kurdiova, Timea, Ukropec, Jozef, Nyitrayova, Olga, Kolnikova, Miriam, Klimes, Iwar, Borck, Guntram, Bahlo, Melanie, Haas, Stefan A., Kim, Joo‐Ran, Lotspeich‐Cole, Leda E., Gasperikova, Daniela, Dever, Thomas E., Kalscheuer, Vera M.

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The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals von Giannuzzi, Giuliana, Schmidt, Paul J., Porcu, Eleonora, Willemin, Gilles, Munson, Katherine M., Nuttle, Xander, Earl, Rachel, Chrast, Jacqueline, Hoekzema, Kendra, Risso, Davide, Männik, Katrin, De Nittis, Pasquelena, Baratz, Ethan D., Herault, Yann, Gao, Xiang, Philpott, Caroline C., Bernier, Raphael A., Kutalik, Zoltan, Fleming, Mark D., Eichler, Evan E., Reymond, Alexandre

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) von Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C.M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita

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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report von Hamamy, Hanan, Antonarakis, Stylianos E, Cavalli-Sforza, Luigi Luca, Temtamy, Samia, Romeo, Giovanni, Kate, Leo P Ten, Bennett, Robin L, Shaw, Alison, Megarbane, Andre, van Duijn, Cornelia, Bathija, Heli, Fokstuen, Siv, Engel, Eric, Zlotogora, Joel, Dermitzakis, Emmanouil, Bottani, Armand, Dahoun, Sophie, Morris, Michael A, Arsenault, Steve, Aglan, Mona S, Ajaz, Mubasshir, Alkalamchi, Ayad, Alnaqeb, Dhekra, Alwasiyah, Mohamed K, Anwer, Nawfal, Awwad, Rawan, Bonnefin, Melissa, Corry, Peter, Gwanmesia, Lorraine, Karbani, Gulshan A, Mostafavi, Maryam, Pippucci, Tommaso, Ranza-Boscardin, Emmanuelle, Reversade, Bruno, Sharif, Saghira M, Teeuw, Marieke E, Bittles, Alan H

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome von Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs

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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster von Santoni, Federico A, Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E

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