Canlyniadau Chwilio - Jamra, Rami Abou

Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy gan Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Jamra, Rami Abou

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Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy gan Murakami, Yoshiko, Tawamie, Hasan, Maeda, Yusuke, Büttner, Christian, Buchert, Rebecca, Radwan, Farah, Schaffer, Stefanie, Sticht, Heinrich, Aigner, Michael, Reis, André, Kinoshita, Taroh, Jamra, Rami Abou

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Hemophagocytic lymphohistiocytosis–like hyperinflammation due to a de novo mutation in DPP9 gan Wolf, Christine, Fischer, Hannah, Kühl, Jörn-Sven, Koss, Sarah, Jamra, Rami Abou, Starke, Sven, Schultz, Jurek, Ehl, Stephan, Neumann, Katrin, Schuetz, Catharina, Huber, Robert, Hornung, Veit, Lee-Kirsch, Min Ae

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A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry gan Strohmaier, Jana, Frank, Josef, Wendland, Jens R., Schumacher, Johannes, Jamra, Rami Abou, Treutlein, Jens, Nieratschker, Vanessa, Breuer, René, Mattheisen, Manuel, Herms, Stefan, Mühleisen, Thomas W., Maier, Wolfgang, Nöthen, Markus M., Cichon, Sven, Rietschel, Marcella, Schulze, Thomas G.

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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 gan Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou

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The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations gan Schumacher, Johannes, Laje, Gonzalo, Jamra, Rami Abou, Becker, Tim, Mühleisen, Thomas W., Vasilescu, Catalina, Mattheisen, Manuel, Herms, Stefan, Hoffmann, Per, Hillmer, Axel M., Georgi, Alexander, Herold, Christine, Schulze, Thomas G., Propping, Peter, Rietschel, Marcella, McMahon, Francis J., Nöthen, Markus M., Cichon, Sven

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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature gan Hauer, Nadine N., Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif. B, Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian T.

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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 gan Kortüm, Fanny, Jamra, Rami Abou, Alawi, Malik, Berry, Susan A., Borck, Guntram, Helbig, Katherine L., Tang, Sha, Huhle, Dagmar, Korenke, Georg Christoph, Hebbar, Malavika, Shukla, Anju, Girisha, Katta M., Steinlin, Maja, Waldmeier-Wilhelm, Sandra, Montomoli, Martino, Guerrini, Renzo, Lemke, Johannes R., Kutsche, Kerstin

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The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals gan Zacher, Pia, Mayer, Thomas, Brandhoff, Frank, Bartolomaeus, Tobias, Le Duc, Diana, Finzel, Martin, Heinze, Anja, Horn, Susanne, Klöckner, Chiara, Körber, Gudrun, Hentschel, Julia, Kalita, Malgorzata, Krey, Ilona, Nastainczyk-Wulf, Marina, Platzer, Konrad, Rebstock, Johannes, Popp, Bernt, Stiller, Mathias, Teichmann, Anne-Christin, Jamra, Rami Abou, Lemke, Johannes R.

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Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment gan Ahmed, Iltaf, Buchert, Rebecca, Zhou, Mi, Jiao, Xinfu, Mittal, Kirti, Sheikh, Taimoor I., Scheller, Ute, Vasli, Nasim, Rafiq, Muhammad Arshad, Brohi, M. Qasim, Mikhailov, Anna, Ayaz, Muhammad, Bhatti, Attya, Sticht, Heinrich, Nasr, Tanveer, Carter, Melissa T., Uebe, Steffen, Reis, André, Ayub, Muhammad, John, Peter, Kiledjian, Megerditch, Vincent, John B., Jamra, Rami Abou

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Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia gan Hillmer, Axel M. , Hanneken, Sandra , Ritzmann, Sibylle , Becker, Tim , Freudenberg, Jan , Brockschmidt, Felix F. , Flaquer, Antonia , Freudenberg-Hua, Yun , Jamra, Rami Abou , Metzen, Christine , Heyn, Uwe , Schweiger, Nadine , Betz, Regina C. , Blaumeiser, Bettina , Hampe, Jochen , Schreiber, Stefan , Schulze, Thomas G. , Hennies, Hans Christian , Schumacher, Johannes , Propping, Peter , Ruzicka, Thomas , Cichon, Sven , Wienker, Thomas F. , Kruse, Roland , Nöthen, Markus M. 

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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature gan Hauer, Nadine N., Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S., Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B., De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R., Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T.

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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 gan Ravenscroft, Thomas A., Phillips, Jennifer B., Fieg, Elizabeth, Bajikar, Sameer S., Peirce, Judy, Wegner, Jeremy, Luna, Alia A., Fox, Eric J., Yan, Yi-Lin, Rosenfeld, Jill A., Zirin, Jonathan, Kanca, Oguz, Benke, Paul J., Cameron, Eric S., Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine S.C., Lincoln, Sharyn, Stoler, Joan M., Postlethwait, John H., Wangler, Michael F., Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, Bellen, Hugo J.

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Loss of function of GALNT2 lowers high density lipoproteins in humans, nonhuman primates, and rodents gan Khetarpal, Sumeet A., Schjoldager, Katrine T., Christoffersen, Christina, Raghavan, Avanthi, Edmondson, Andrew C., Reutter, Heiko M., Ahmed, Bouhouche, Ouzzani, R, Peloso, Gina M., Vitali, Cecilia, Zhao, Wei, Somasundara, Amritha Varshini Hanasoge, Millar, John S., Park, YoSon, Fernando, Gayani, Livanov, Valentin, Choi, Seungbum, Noé, Eric, Patel, Pritesh, Ho, Siew Peng, Kirchgessner, Todd G., Wandall, Hans H., Hansen, Lars, Bennett, Eric P., Vakhrushev, Sergey Y., Saleheen, Danish, Kathiresan, Sekar, Brown, Christopher D., Jamra, Rami Abou, LeGuern, Eric, Clausen, Henrik, Rader, Daniel J.

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Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Fur... gan Schumacher, Johannes, Kaneva, Radka, Jamra, Rami Abou, Diaz, Guillermo Orozco, Ohlraun, Stephanie, Milanova, Vihra, Lee, Young-Ae, Rivas, Fabio, Mayoral, Fermin, Fuerst, Robert, Flaquer, Antonia, Windemuth, Christine, Gay, Eudoxia, Sanz, Sebastian, González, Maria José, Gil, Susana, Cabaleiro, Francisco, del Rio, Francisco, Perez, Fermin, Haro, Jesus, Kostov, Christian, Chorbov, Vesselin, Nikolova-Hill, Amelia, Stoyanova, Vessela, Onchev, George, Kremensky, Ivo, Strauch, Konstantin, Schulze, Thomas G., Nürnberg, Peter, Gaebel, Wolfgang, Klimke, Ansgar, Auburger, Georg, Wienker, Thomas F., Kalaydjieva, Luba, Propping, Peter, Cichon, Sven, Jablensky, Assen, Rietschel, Marcella, Nöthen, Markus M.

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Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration gan Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C., Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L., Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A., Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N., Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B., Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G.

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations gan Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Rush, Eric, Pitt, Geoffrey, Au, Ping Yee Billie, Shashi, Vandana

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Germline AGO2 mutations impair RNA interference and human neurological development gan Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, Kreienkamp, Hans-Jürgen

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder gan Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.

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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects gan Platzer, Konrad, Yuan, Hongjie, Schütz, Hannah, Winschel, Alexander, Chen, Wenjuan, Hu, Chun, Kusumoto, Hirofumi, Heyne, Henrike O, Helbig, Katherine L, Tang, Sha, Willing, Marcia C, Tinkle, Brad T, Adams, Darius J, Depienne, Christel, Keren, Boris, Mignot, Cyril, Frengen, Eirik, Strømme, Petter, Biskup, Saskia, Döcker, Dennis, Strom, Tim M, Mefford, Heather C, Myers, Candace T, Muir, Alison M, LaCroix, Amy, Sadleir, Lynette, Scheffer, Ingrid E, Brilstra, Eva, van Haelst, Mieke M, van der Smagt, Jasper J, Bok, Levinus A, Møller, Rikke S, Jensen, Uffe B, Millichap, John J, Berg, Anne T, Goldberg, Ethan M, De Bie, Isabelle, Fox, Stephanie, Major, Philippe, Jones, Julie R, Zackai, Elaine H, Jamra, Rami Abou, Rolfs, Arndt, Leventer, Richard J, Lawson, John A, Roscioli, Tony, Jansen, Floor E, Ranza, Emmanuelle, Korff, Christian M, Lehesjoki, Anna-Elina, Courage, Carolina, Linnankivi, Tarja, Smith, Douglas R, Stanley, Christine, Mintz, Mark, McKnight, Dianalee, Decker, Amy, Tan, Wen-Hann, Tarnopolsky, Mark A, Brady, Lauren I, Wolff, Markus, Dondit, Lutz, Pedro, Helio F, Parisotto, Sarah E, Jones, Kelly L, Patel, Anup D, Franz, David N, Vanzo, Rena, Marco, Elysa, Ranells, Judith D, Di Donato, Nataliya, Dobyns, William B, Laube, Bodo, Traynelis, Stephen F, Lemke, Johannes R

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