A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Bằng Brusse, Esther, Majoor-Krakauer, Danielle, de Graaf, Bianca M., Visser, Gerhard H., Swagemakers, Sigrid, Boon, Agnita J.W., Oostra, Ben A., Bertoli-Avella, Aida M.
Được phát hành 2009

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity

Bằng Conte, Maria Luisa, Bertoli-Avella, Aida M., de Graaf, Bianca M., Punzo, Francesca, Lama, Giuliana, La Manna, Angela, Grassia, Carolina, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio
Được phát hành 2008

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

Bằng Widowati, Titis, Melhem, Shamiram, Patria, Suryono Y, de Graaf, Bianca M, Sinke, Richard J, Viel, Martijn, Dijkhuis, Jos, Sadewa, Ahmad H, Purwohardjono, Rochadi, Soenarto, Yati, Hofstra, Robert MW, Sribudiani, Yunia
Xuất bản năm Eur J Hum Genet (2016)

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

Bằng van Swieten, John C., Brusse, Esther, de Graaf, Bianca M., Krieger, Elmar, van de Graaf, Raoul, de Koning, Inge, Maat-Kievit, Anneke, Leegwater, Peter, Dooijes, Dennis, Oostra, Ben A., Heutink, Peter
Được phát hành 2003

ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux

Bằng Bertoli-Avella, Aida M., Conte, Maria Luisa, Punzo, Francesca, de Graaf, Bianca M., Lama, Giuliana, La Manna, Angela, Polito, Cesare, Grassia, Carolina, Nobili, Bruno, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio
Được phát hành 2008

Identification of RNA binding motif proteins essential for cardiovascular development

Bằng Maragh, Samantha, Miller, Ronald A, Bessling, Seneca L, McGaughey, David M, Wessels, Marja W, de Graaf, Bianca, Stone, Eric A, Bertoli-Avella, Aida M, Gearhart, John D, Fisher, Shannon, McCallion, Andrew S
Được phát hành 2011

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

Bằng Vegt, Rinus, Bertoli-Avella, Aida M, Tulen, Joke H M, de Graaf, Bianca, Verkerk, Annemieke J M H, Vervoort, Jeroen, Twigt, Carla M, Maat-Kievit, Anneke, van Tuijl, Ruud, van der Lijn, Marieke, Hengeveld, Michiel W, Oostra, Ben A
Được phát hành 2010

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder

Bằng Alves, Maria M, Halim, Danny, Maroofian, Reza, de Graaf, Bianca M, Rooman, Raoul, van der Werf, Christine S, Van de Vijver, Els, Mehrjardi, Mohammad YV, Aflatoonian, Majid, Chioza, Barry A, Baple, Emma L, Dehghani, Mohammadreza, Crosby, Andrew H, Hofstra, Robert MW
Xuất bản năm Eur J Hum Genet (2016)

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Bằng Halim, Danny, Brosens, Erwin, Muller, Françoise, Wangler, Michael F., Beaudet, Arthur L., Lupski, James R., Akdemir, Zeynep H. Coban, Doukas, Michael, Stoop, Hans J., de Graaf, Bianca M., Brouwer, Rutger W.W., van Ijcken, Wilfred F.J., Oury, Jean-François, Rosenblatt, Jonathan, Burns, Alan J., Tibboel, Dick, Hofstra, Robert M.W., Alves, Maria M.
Xuất bản năm Am J Hum Genet (2017)

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Bằng MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.
Xuất bản năm Hum Mutat (2020)

NPHP4 Variants are Associated with Pleiotropic Heart Malformations

Bằng French, Vanessa M., van de Laar, Ingrid M.B.H., Wessels, Marja W., Rohe, Christan, Roos-Hesselink, Jolien W., Wang, Guangliang, Frohn-Mulder, Ingrid M.E., Severijnen, Lies-Anne, de Graaf, Bianca M., Schot, Rachel, Breedveld, Guido, Mientjes, Edwin, van Tienhoven, Marianne, Jadot, Elodie, Jiang, Zhengxin, Verkerk, Annemieke, Swagemakers, Sigrid, Venselaar, Hanka, Rahimi, Zohreh, Najmabadi, Hossein, Meijers-Heijboer, Hanne, de Graaff, Esther, Helbing, Wim A., Willemsen, Rob, Devriendt, Koen, Belmont, John W., Oostra, Ben A., Amack, Jeffrey D., Bertoli-Avella, Aida M.
Được phát hành 2012

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Bằng Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Xuất bản năm J Am Coll Cardiol (2015)