Mutations in SCG10 Are Not Involved in Hirschsprung Disease

Por Alves, Maria M. M., Osinga, Jan, Verheij, Joke B. G. M., Metzger, Marco, Eggen, Bart J. L., Hofstra, Robert M. W.
Publicado em 2010

Novel membrane frizzled-related protein (MFRP) gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds

Por Wasmann, Rosemarie A., Klein Wassink-Ruiter, Jolien S., Sundin, Olof H., Morales, Elisa, Verheij, Joke B.G.M., Pott, Jan-Willem R.
Publicado em 2013

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

Por van Silfhout, Anneke T, van den Akker, Peter C, Dijkhuizen, Trijnie, Verheij, Joke B G M, Olderode-Berends, Maran J W, Kok, Klaas, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M A
Publicado em 2009

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

Por Feenstra, Ilse, Hanemaaijer, Nicolien, Sikkema-Raddatz, Birgit, Yntema, Helger, Dijkhuizen, Trijnie, Lugtenberg, Dorien, Verheij, Joke, Green, Andrew, Hordijk, Roel, Reardon, William, Vries, Bert de, Brunner, Han, Bongers, Ernie, Leeuw, Nicole de, van Ravenswaaij-Arts, Conny
Publicado em 2011

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Por Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, Twigt, Bas, Maas, Saskia, Brooks, Alice S., Verheij, Joke B. G. M., Buys, Charles H. C. M., Hofstra, Robert M. W.
Publicado em 2005

The clinical spectrum of complete FBN1 allele deletions

Por Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke, Moll, Henriette A, Breuning, Martijn H, Pals, Gerard
Publicado em 2011

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Por Jannot, Anne-Sophie, Amiel, Jeanne, Pelet, Anna, Lantieri, Francesca, Fernandez, Raquel M, Verheij, Joke B G M, Garcia-Barcelo, Merce, Arnold, Stacey, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M W, Tam, Paul K H, Munnich, Arnold, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Lyonnet, Stanislas
Publicado em 2012

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Por Seco, Celia Zazo, Giese, Arnaud P, Shafique, Sobia, Schraders, Margit, Oonk, Anne M M, Grossheim, Mike, Oostrik, Jaap, Strom, Tim, Hegde, Rashmi, van Wijk, Erwin, Frolenkov, Gregory I, Azam, Maleeha, Yntema, Helger G, Free, Rolien H, Riazuddin, Saima, Verheij, Joke B G M, Admiraal, Ronald J, Qamar, Raheel, Ahmed, Zubair M, Kremer, Hannie
Publicado no Eur J Hum Genet (2016)

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Por Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd
Publicado no Sci Rep (2016)

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Por Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda
Publicado no Am J Hum Genet (2015)

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

Por Emison, Eileen Sproat, Garcia-Barcelo, Merce, Grice, Elizabeth A., Lantieri, Francesca, Amiel, Jeanne, Burzynski, Grzegorz, Fernandez, Raquel M., Hao, Li, Kashuk, Carl, West, Kristen, Miao, Xiaoping, Tam, Paul K.H., Griseri, Paola, Ceccherini, Isabella, Pelet, Anna, Jannot, Anne-Sophie, de Pontual, Loic, Henrion-Caude, Alexandra, Lyonnet, Stanislas, Verheij, Joke B.G.M., Hofstra, Robert M.W., Antiñolo, Guillermo, Borrego, Salud, McCallion, Andrew S., Chakravarti, Aravinda
Publicado em 2010

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Por Meester, Josephina A.N., Southgate, Laura, Stittrich, Anna-Barbara, Venselaar, Hanka, Beekmans, Sander J.A., den Hollander, Nicolette, Bijlsma, Emilia K., Helderman-van den Enden, Appolonia, Verheij, Joke B.G.M., Glusman, Gustavo, Roach, Jared C., Lehman, Anna, Patel, Millan S., de Vries, Bert B.A., Ruivenkamp, Claudia, Itin, Peter, Prescott, Katrina, Clarke, Sheila, Trembath, Richard, Zenker, Martin, Sukalo, Maja, Van Laer, Lut, Loeys, Bart, Wuyts, Wim
Publicado no Am J Hum Genet (2015)

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

Por Halim, Danny, Wilson, Michael P., Oliver, Daniel, Brosens, Erwin, Verheij, Joke B. G. M., Han, Yu, Nanda, Vivek, Lyu, Qing, Doukas, Michael, Stoop, Hans, Brouwer, Rutger W. W., van IJcken, Wilfred F. J., Slivano, Orazio J., Burns, Alan J., Christie, Christine K., de Mesy Bentley, Karen L., Brooks, Alice S., Tibboel, Dick, Xu, Suowen, Jin, Zheng Gen, Djuwantono, Tono, Yan, Wei, Alves, Maria M., Hofstra, Robert M. W., Miano, Joseph M.
Publicado no Proc Natl Acad Sci U S A (2017)

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Por Haer-Wigman, Lonneke, van Zelst-Stams, Wendy AG, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline CW, Verheij, Joke BGM, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel JF, Kievit, Anneke J, Verhoeven, Virginie JM, Pott, Jan WR, Sallevelt, Suzanne CEH, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans PM, Hoefsloot, Lies, Yntema, Helger G
Publicado no Eur J Hum Genet (2017)

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Por Gui, Hongsheng, Schriemer, Duco, Cheng, William W., Chauhan, Rajendra K., Antiňolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S., Brouwer, Rutger W. W., Burns, Alan J., Cherny, Stacey S., Dopazo, Joaquin, Eggen, Bart J. L., Griseri, Paola, Jalloh, Binta, Le, Thuy-Linh, Lui, Vincent C. H., Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S. W., Pelet, Anna, Ruiz-Ferrer, Macarena, Sham, Pak C., Shepherd, Iain T., So, Man-Ting, Sribudiani, Yunia, Tang, Clara S. M., van den Hout, Mirjam C. G. N., van der Linde, Herma C., van Ham, Tjakko J., van IJcken, Wilfred F. J., Verheij, Joke B. G. M., Amiel, Jeanne, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Lyonnet, Stanislas, Tam, Paul K. H., Garcia-Barceló, Maria-Mercè, Hofstra, Robert M. W.
Publicado no Genome Biol (2017)