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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
Dennis, Megan Y., Nuttle, Xander, Sudmant, Peter H., Antonacci, Francesca, Graves, Tina A., Nefedov, Mikhail, Rosenfeld, Jill A., Sajjadian, Saba, Malig, Maika, Kotkiewicz, Holland, Curry, Cynthia J., Shafer, Susan, Shaffer, Lisa G., de Jong, Pieter J., Wilson, Richard K., Eichler, Evan E.
Published in Cell (11.05.2012)
Published in Cell (11.05.2012)
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Journal Article
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
Laine, Christine M, Joeng, Kyu Sang, Campeau, Philippe M, Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T, Pekkinen, Minna, Wessman, Maija, Heino, Terhi J, Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G, Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R, Cohn, Daniel H, Gibbs, Richard A, Lee, Brendan H, Mäkitie, Outi
Published in The New England journal of medicine (09.05.2013)
Published in The New England journal of medicine (09.05.2013)
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Journal Article
Mutations in PIK3R1 Cause SHORT Syndrome
Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, Tartaglia, Marco
Published in Nature communications (11.11.2022)
Published in Nature communications (11.11.2022)
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Journal Article
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Tartaglia, Marco, Pennacchio, Len A, Zhao, Chen, Yadav, Kamlesh K, Fodale, Valentina, Sarkozy, Anna, Pandit, Bhaswati, Oishi, Kimihiko, Martinelli, Simone, Schackwitz, Wendy, Ustaszewska, Anna, Martin, Joel, Bristow, James, Carta, Claudio, Lepri, Francesca, Neri, Cinzia, Vasta, Isabella, Gibson, Kate, Curry, Cynthia J, Siguero, Juan Pedro López, Digilio, Maria Cristina, Zampino, Giuseppe, Dallapiccola, Bruno, Bar-Sagi, Dafna, Gelb, Bruce D
Published in Nature genetics (01.01.2007)
Published in Nature genetics (01.01.2007)
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Journal Article
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Rauch, Anita, Thiel, Christian T, Schindler, Detlev, Wick, Ursula, Crow, Yanick J, Ekici, Arif B, van Essen, Anthonie J, Goecke, Timm O, Al-Gazali, Lihadh, Chrzanowska, Krystyna H, Zweier, Christiane, Brunner, Han G, Becker, Kristin, Curry, Cynthia J, Dallapiccola, Bruno, Devriendt, Koenraad, Dörfler, Arnd, Kinning, Esther, Megarbane, André, Meinecke, Peter, Semple, Robert K, Spranger, Stephanie, Toutain, Annick, Trembath, Richard C, Voss, Egbert, Wilson, Louise, Hennekam, Raoul, de Zegher, Francis, Dörr, Helmuth-Günther, Reis, André
Published in Science (American Association for the Advancement of Science) (08.02.2008)
Published in Science (American Association for the Advancement of Science) (08.02.2008)
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Journal Article
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
Merrill, Amy E., Sarukhanov, Anna, Krejci, Pavel, Idoni, Brian, Camacho, Natalia, Estrada, Kristine D., Lyons, Karen M., Deixler, Hannah, Robinson, Haynes, Chitayat, David, Curry, Cynthia J., Lachman, Ralph S., Wilcox, William R., Krakow, Deborah
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Journal Article
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
Monteiro, Fabiola P., Curry, Cynthia J., Hevner, Robert, Elliott, Stephen, Fisher, Jamie H., Turocy, John, Dobyns, William B., Costa, Larissa A., Freitas, Erika, Kitajima, João Paulo, Kok, Fernando
Published in European journal of medical genetics (01.01.2020)
Published in European journal of medical genetics (01.01.2020)
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Journal Article
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis
Tully, Hannah M., Dempsey, Jennifer C., Ishak, Gisele E., Adam, Margaret P., Curry, Cynthia J.R., Sanchez-Lara, Pedro, Hunter, Alasdair, Gripp, Karen W., Allanson, Judith, Cunniff, Christopher, Glass, Ian, Millen, Kathleen J., Doherty, Daniel, Dobyns, William B.
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Journal Article
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
Kumar, Raman, Palmer, Elizabeth, Gardner, Alison E., Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J., Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N., Atkinson, Vanessa, Black, Michael, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z., Marshall, Christian R., Costain, Gregory, Wessels, Marja W., Baptista, Julia, Drummond, James, Leffler, Melanie, Field, Michael, Gecz, Jozef
Published in Frontiers in molecular neuroscience (11.02.2020)
Published in Frontiers in molecular neuroscience (11.02.2020)
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Journal Article
Risk Factors for Perinatal Arterial Stroke: A Study of 60 Mother-Child Pairs
Curry, Cynthia J., Bhullar, Sundeep, Holmes, Jon, Delozier, C. Dawn, Roeder, Elizabeth R., Hutchison, H. Terry
Published in Pediatric neurology (01.08.2007)
Published in Pediatric neurology (01.08.2007)
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Journal Article
Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region
Strehle, Eugen-Matthias, Yu, Linbo, Rosenfeld, Jill A., Donkervoort, Sandra, Zhou, Yulin, Chen, Tian-Jian, Martinez, Jose E., Fan, Yao-Shan, Barbouth, Deborah, Zhu, Hongbo, Vaglio, Alicia, Smith, Rosemarie, Stevens, Cathy A., Curry, Cynthia J., Ladda, Roger L., Fan, Zheng (Jane), Fox, Joyce E., Martin, Judith A., Abdel-Hamid, Hoda Z., McCracken, Elizabeth A., McGillivray, Barbara C., Masser-Frye, Diane, Huang, Taosheng
Published in American journal of medical genetics. Part A (01.09.2012)
Published in American journal of medical genetics. Part A (01.09.2012)
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Journal Article
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Yamamoto, Shinya, Jaiswal, Manish, Charng, Wu-Lin, Gambin, Tomasz, Karaca, Ender, Mirzaa, Ghayda, Wiszniewski, Wojciech, Sandoval, Hector, Haelterman, Nele A., Xiong, Bo, Zhang, Ke, Bayat, Vafa, David, Gabriela, Li, Tongchao, Chen, Kuchuan, Gala, Upasana, Harel, Tamar, Pehlivan, Davut, Penney, Samantha, Vissers, Lisenka E.L.M., de Ligt, Joep, Jhangiani, Shalini N., Xie, Yajing, Tsang, Stephen H., Parman, Yesim, Sivaci, Merve, Battaloglu, Esra, Muzny, Donna, Wan, Ying-Wooi, Liu, Zhandong, Lin-Moore, Alexander T., Clark, Robin D., Curry, Cynthia J., Link, Nichole, Schulze, Karen L., Boerwinkle, Eric, Dobyns, William B., Allikmets, Rando, Gibbs, Richard A., Chen, Rui, Lupski, James R., Wangler, Michael F., Bellen, Hugo J.
Published in Cell (25.09.2014)
Published in Cell (25.09.2014)
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Journal Article
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.
Published in Genetics in medicine (01.02.2013)
Published in Genetics in medicine (01.02.2013)
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Journal Article
ATP1A2- and ATP1A3- associated early profound epileptic encephalopathy and polymicrogyria
Vetro, Annalisa, Nielsen, Hang N, Holm, Rikke, Hevner, Robert F, Parrini, Elena, Powis, Zoe, Møller, Rikke S, Bellan, Cristina, Simonati, Alessandro, Lesca, Gaétan, Helbig, Katherine L, Palmer, Elizabeth E, Mei, Davide, Ballardini, Elisa, Van Haeringen, Arie, Syrbe, Steffen, Leuzzi, Vincenzo, Cioni, Giovanni, Curry, Cynthia J, Costain, Gregory, Santucci, Margherita, Chong, Karen, Mancini, Grazia M S, Clayton-Smith, Jill, Bigoni, Stefania, Scheffer, Ingrid E, Dobyns, William B, Vilsen, Bente, Guerrini, Renzo, Sanlaville, Damien, Sachdev, Rani, Andrews, Ian, Mari, Francesco, Cavalli, Anna, Barba, Carmen, De Maria, Beatrice, Garani, Giampaolo, Lemke, Johannes R, Mastrangelo, Mario, Tam, Emily, Donner, Elizabeth, Branson, Helen, Monteiro, Fabiola P, Kok, Fernando, Howell, Katherine B, Leech, Stephanie, Mefford, Heather, Muir, Alison
Published in Brain (London, England : 1878) (01.05.2021)
Published in Brain (London, England : 1878) (01.05.2021)
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Journal Article
Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases
Chitayat, David, Keating, Sarah, Zand, Dina J., Costa, Teresa, Zackai, Elaine H., Silverman, Earl, Tiller, George, Unger, Sheila, Miller, Stephen, Kingdom, John, Toi, Ants, Curry, Cynthia J.R.
Published in American journal of medical genetics. Part A (01.12.2008)
Published in American journal of medical genetics. Part A (01.12.2008)
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Journal Article