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Kar, Sandip, Baumann, William T, Paul, Mark R, Tyson, John J
Published in Proceedings of the National Academy of Sciences - PNAS (21.04.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (21.04.2009)
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A model of yeast cell-cycle regulation based on multisite phosphorylation
Tyson, John J, Barik, Debashis, Baumann, William T, Paul, Mark R, Novak, Bela
Published in Molecular systems biology (24.08.2010)
Published in Molecular systems biology (24.08.2010)
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DNA-graphene interactions during translocation through nanogaps
Patel, Hiral N, Carroll, Ian, Lopez, Jr, Rodolfo, Sankararaman, Sandeep, Etienne, Charles, Kodigala, Subba Ramaiah, Paul, Mark R, Postma, Henk W Ch
Published in PloS one (03.02.2017)
Published in PloS one (03.02.2017)
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Eichler, Evan E, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
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Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
Sörmann, Janina, Schewe, Marcus, Proks, Peter, Jouen-Tachoire, Thibault, Rao, Shanlin, Riel, Elena B, Agre, Katherine E, Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R, Muppidi, Srikanth, Pichurin, Pavel N, Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P, Rödström, Karin E J, Hahn, Michael G, Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E, Wright, Caroline F, Tucker, Stephen J
Published in Nature genetics (01.10.2022)
Published in Nature genetics (01.10.2022)
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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria
Published in Journal of medical genetics (01.09.2016)
Published in Journal of medical genetics (01.09.2016)
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Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6
Gerber, Céline B., Fliedner, Anna, Bartsch, Oliver, Berland, Siren, Dewenter, Malin, Haug, Marte, Hayes, Ian, Marin‐Reina, Purificacion, Mark, Paul R., Martinez‐Castellano, Francisco, Maystadt, Isabelle, Karadurmus, Deniz, Steindl, Katharina, Wiesener, Antje, Zweier, Markus, Sticht, Heinrich, Zweier, Christiane
Published in Clinical genetics (01.09.2022)
Published in Clinical genetics (01.09.2022)
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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Herbst, Charlotte, Bothe, Viktoria, Wegler, Meret, Axer-Schaefer, Susanne, Audebert-Bellanger, Séverine, Gecz, Jozef, Cogne, Benjamin, Feldman, Hagit Baris, Horn, Anselm H. C., Hurst, Anna C. E., Kelly, Melissa A., Kruer, Michael C., Kurolap, Alina, Laquerriere, Annie, Li, Megan, Mark, Paul R., Morawski, Markus, Nizon, Mathilde, Pastinen, Tomi, Polster, Tilman, Saugier-Veber, Pascale, SeSong, Jang, Sticht, Heinrich, Stieler, Jens T., Thifffault, Isabelle, van Eyk, Clare L., Marcorelles, Pascale, Vezain-Mouchard, Myriam, Abou Jamra, Rami, Oppermann, Henry
Published in Human genetics (01.03.2024)
Published in Human genetics (01.03.2024)
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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Stefan, Piatek G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Gonçalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean‐Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Guillen Sacoto, Maria J., Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Adès, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang, Kai, Timmers, H. T. Marc, Lyon, Gholson J.
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
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Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort
Prasov, Lev, Ullah, Ehsan, Turriff, Amy E., Warner, Blake M., Conley, Julie, Mark, Paul R., Hufnagel, Robert B., Huryn, Laryssa A.
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Chowdhury, Fuad, Wang, Lei, Al-Raqad, Mohammed, Amor, David J., Baxová, Alice, Bendová, Šárka, Biamino, Elisa, Brusco, Alfredo, Caluseriu, Oana, Cox, Nancy J., Froukh, Tawfiq, Gunay-Aygun, Meral, Hančárová, Miroslava, Haynes, Devon, Heide, Solveig, Hoganson, George, Kaname, Tadashi, Keren, Boris, Kosaki, Kenjiro, Kubota, Kazuo, Lemons, Jennifer M., Magriña, Maria A., Mark, Paul R., McDonald, Marie T., Montgomery, Sarah, Morley, Gina M., Ohnishi, Hidenori, Okamoto, Nobuhiko, Rodriguez-Buritica, David, Rump, Patrick, Sedláček, Zdeněk, Schatz, Krista, Streff, Haley, Uehara, Tomoko, Walia, Jagdeep S., Wheeler, Patricia G., Wiesener, Antje, Zweier, Christiane, Kawakami, Koichi, Wentzensen, Ingrid M., Lalani, Seema R., Siu, Victoria M., Bi, Weimin, Balci, Tugce B.
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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