Mutations in SCG10 Are Not Involved in Hirschsprung Disease

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

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

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

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

par 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
Publié 2009

Identifying Candidate Hirschsprung Disease–Associated RET Variants

par 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.
Publié 2005

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

par 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
Publié 2012

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

par Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, el Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., van Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, van Diemen, Cleo C.
Publié dans Prenat Diagn (2020)

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

par 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
Publié dans Eur J Hum Genet (2016)

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

par 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
Publié dans Sci Rep (2016)

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

par 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
Publié dans Am J Hum Genet (2015)

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

par 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
Publié 2010

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

par 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
Publié dans Am J Hum Genet (2015)

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

par 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.
Publié dans Proc Natl Acad Sci U S A (2017)

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

par Sanchez, Elodie, Laplace-Builhé, Béryl, Mau-Them, Frédéric Tran, Richard, Eric, Goldenberg, Alice, Toler, Tomi L., Guignard, Thomas, Gatinois, Vincent, Vincent, Marie, Blanchet, Catherine, Boland, Anne, Bihoreau, Marie Thérèse, Deleuze, Jean-Francois, Olaso, Robert, Nephi, Walton, Lüdecke, Hermann-Josef, Verheij, Joke B. G. M., Moreau-Lenoir, Florence, Denoyelle, Françoise, Rivière, Jean-Baptiste, Laplanche, Jean-Louis, Willing, Marcia, Captier, Guillaume, Apparailly, Florence, Wieczorek, Dagmar, Collet, Corinne, Djouad, Farida, Geneviève, David
Publié dans Genet Med (2019)

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

par Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G. G. W., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B. G. M., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.
Publié dans Genet Med (2019)

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease

par Tang, Clara Sze-man, Gui, Hongsheng, Kapoor, Ashish, Kim, Jeong-Hyun, Luzón-Toro, Berta, Pelet, Anna, Burzynski, Grzegorz, Lantieri, Francesca, So, Man-ting, Berrios, Courtney, Shin, Hyoung Doo, Fernández, Raquel M., Le, Thuy-Linh, Verheij, Joke B.G.M., Matera, Ivana, Cherny, Stacey S., Nandakumar, Priyanka, Cheong, Hyun Sub, Antiñolo, Guillermo, Amiel, Jeanne, Seo, Jeong-Meen, Kim, Dae-Yeon, Oh, Jung-Tak, Lyonnet, Stanislas, Borrego, Salud, Ceccherini, Isabella, Hofstra, Robert M.W., Chakravarti, Aravinda, Kim, Hyun-Young, Sham, Pak Chung, Tam, Paul K.H., Garcia-Barceló, Maria-Mercè
Publié dans Hum Mol Genet (2016)

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

par Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.
Publié dans Genet Med (2019)

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

par 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.
Publié dans Genome Biol (2017)

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

par van Rijn, Jorik M., Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y., van der Doef, Hubert P.J., van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M., Thian, Marini, Kokke, Freddy T.M., Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A., Lichtenbelt, Klaske D., Massink, Maarten P.G., Duran, Karen J., Verheij, Joke B.G.M, Lugtenberg, Dorien, Nikkels, Peter G.J., Brouwer, Henricus G.F., Verkade, Henkjan J., Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S., Coffer, Paul J., Janecke, Andreas R., van Haaften, Gijs, Houwen, Roderick H.J., Müller, Thomas, Middendorp, Sabine, Boztug, Kaan
Publié dans Gastroenterology (2018)