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Published in Nature communications (18.02.2021)
Published in Nature communications (18.02.2021)
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes
Hall, Gentzon, Lane, Brandon M, Khan, Kamal, Pediaditakis, Igor, Xiao, Jianqiu, Wu, Guanghong, Wang, Liming, Kovalik, Maria E, Chryst-Stangl, Megan, Davis, Erica E, Spurney, Robert F, Gbadegesin, Rasheed A
Published in Journal of the American Society of Nephrology (01.08.2018)
Published in Journal of the American Society of Nephrology (01.08.2018)
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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
Niihori, Tetsuya, Nagai, Koki, Fujita, Atsushi, Ohashi, Hirofumi, Okamoto, Nobuhiko, Okada, Satoshi, Harada, Atsuko, Kihara, Hirotaka, Arbogast, Thomas, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Abe, Taiki, Inoue, Shin-ichi, Tsai, I-Chun, Matsumoto, Naomichi, Davis, Erica E., Katsanis, Nicholas, Aoki, Yoko
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei, Lewis, Richard A., Banin, Eyal, Lupski, James R., Clark, Robin, Katsanis, Nicholas
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans
Brooks, Susan S, Wall, Alissa L, Golzio, Christelle, Reid, David W, Kondyles, Amalia, Willer, Jason R, Botti, Christina, Nicchitta, Christopher V, Katsanis, Nicholas, Davis, Erica E
Published in Genetics (Austin) (01.10.2014)
Published in Genetics (Austin) (01.10.2014)
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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
Hjeij, Rim, Lindstrand, Anna, Francis, Richard, Zariwala, Maimoona A., Liu, Xiaoqin, Li, You, Damerla, Rama, Dougherty, Gerard W., Abouhamed, Marouan, Olbrich, Heike, Loges, Niki T., Pennekamp, Petra, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Werner, Claudius, Raidt, Johanna, Köhler, Gabriele, Häffner, Karsten, Reyes-Mugica, Miguel, Lupski, James R., Leigh, Margaret W., Rosenfeld, Margaret, Morgan, Lucy C., Knowles, Michael R., Lo, Cecilia W., Katsanis, Nicholas, Omran, Heymut
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects
Hutson, Mary R, Keyte, Anna L, Hernández-Morales, Miriam, Gibbs, Eric, Kupchinsky, Zachary A, Argyridis, Ioannis, Erwin, Kyle N, Pegram, Kelly, Kneifel, Margaret, Rosenberg, Paul B, Matak, Pavle, Xie, Luke, Grandl, Jörg, Davis, Erica E, Katsanis, Nicholas, Liu, Chunlei, Benner, Eric J
Published in Science signaling (10.10.2017)
Published in Science signaling (10.10.2017)
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In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress
Anderson, Blair R, Howell, David N, Soldano, Karen, Garrett, Melanie E, Katsanis, Nicholas, Telen, Marilyn J, Davis, Erica E, Ashley-Koch, Allison E
Published in PLoS genetics (01.07.2015)
Published in PLoS genetics (01.07.2015)
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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Roberson, Elle C, Dowdle, William E, Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R, Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D, Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A, Saunier, Sophie, Otto, Edgar A, Katsanis, Nicholas, Davis, Erica E, Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R, Reiter, Jeremy F
Published in The Journal of cell biology (13.04.2015)
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Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
Khan, Sheraz, Focșa, Ina Ofelia, Budișteanu, Magdalena, Stoica, Cristina, Nedelea, Florina, Bohîlțea, Laurențiu, Caba, Lavinia, Butnariu, Lăcrămioara, Pânzaru, Monica, Rusu, Cristina, Jurcă, Claudia, Chirita‐Emandi, Adela, Bănescu, Claudia, Abbas, Wasim, Sadeghpour, Azita, Baig, Shahid Mahmood, Bălgrădean, Mihaela, Davis, Erica E.
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry
Kinzel, Doris, Boldt, Karsten, Davis, Erica E., Burtscher, Ingo, Trümbach, Dietrich, Diplas, Bill, Attié-Bitach, Tania, Wurst, Wolfgang, Katsanis, Nicholas, Ueffing, Marius, Lickert, Heiko
Published in Developmental cell (20.07.2010)
Published in Developmental cell (20.07.2010)
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Zebrafish knockout of Down syndrome gene, DYRK1A , shows social impairments relevant to autism
Kim, Oc-Hee, Cho, Hyun-Ju, Han, Enna, Hong, Ted Inpyo, Ariyasiri, Krishan, Choi, Jung-Hwa, Hwang, Kyu-Seok, Jeong, Yun-Mi, Yang, Se-Yeol, Yu, Kweon, Park, Doo-Sang, Oh, Hyun-Woo, Davis, Erica E, Schwartz, Charles E, Lee, Jeong-Soo, Kim, Hyung-Goo, Kim, Cheol-Hee
Published in Molecular autism (29.09.2017)
Published in Molecular autism (29.09.2017)
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A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis
Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Robert, Katsanis, Nicholas, Goerz, Conrad, Del Bigio, Marc R, Davis, Erica E
Published in Journal of medical genetics (01.07.2017)
Published in Journal of medical genetics (01.07.2017)
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Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development
Qiu, Yuqi, Arbogast, Thomas, Lorenzo, Sandra Martin, Li, Hongying, Tang, Shih C., Richardson, Ellen, Hong, Oanh, Cho, Shawn, Shanta, Omar, Pang, Timothy, Corsello, Christina, Deutsch, Curtis K., Chevalier, Claire, Davis, Erica E., Iakoucheva, Lilia M., Herault, Yann, Katsanis, Nicholas, Messer, Karen, Sebat, Jonathan
Published in Cell reports (Cambridge) (24.09.2019)
Published in Cell reports (Cambridge) (24.09.2019)
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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
Chassaing, Nicolas, Davis, Erica E, McKnight, Kelly L, Niederriter, Adrienne R, Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C, Faguer, Stanislas, Calvas, Patrick
Published in Genome research (01.04.2016)
Published in Genome research (01.04.2016)
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Ectopic Expression of Retrotransposon-Derived PEG11/RTL1 Contributes to the Callipyge Muscular Hypertrophy
Xu, Xuewen, Ectors, Fabien, Davis, Erica E, Pirottin, Dimitri, Cheng, Huijun, Farnir, Frédéric, Hadfield, Tracy, Cockett, Noelle, Charlier, Carole, Georges, Michel, Takeda, Haruko
Published in PloS one (16.10.2015)
Published in PloS one (16.10.2015)
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