Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
Kuil, Laura E, MacKenzie, Katherine C, Tang, Clara S, Windster, Jonathan D, Le, Thuy Linh, Karim, Anwarul, de Graaf, Bianca M, van der Helm, Robert, van Bever, Yolande, Sloots, Cornelius E. J, Meeussen, Conny, Tibboel, Dick, de Klein, Annelies, Wijnen, René M. H, Amiel, Jeanne, Lyonnet, Stanislas, Garcia-Barcelo, Maria-Mercè, Tam, Paul K. H, Alves, Maria M, Brooks, Alice S, Hofstra, Robert M. W, Brosens, Erwin
Published in PLoS genetics (06.08.2021)
Published in PLoS genetics (06.08.2021)
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Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
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.
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling
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
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model
MacKenzie, Katherine C, Garritsen, Rhiana, Chauhan, Rajendra K, Sribudiani, Yunia, de Graaf, Bianca M, Rugenbrink, Tim, Brouwer, Rutger, van Ijcken, Wilfred F J, de Blaauw, Ivo, Brooks, Alice S, Sloots, Cornelius E J, Meeuwsen, Conny J H M, Wijnen, René M, Newgreen, Donald F, Burns, Alan J, Hofstra, Robert M W, Alves, Maria M, Brosens, Erwin
Published in International journal of molecular sciences (16.11.2021)
Published in International journal of molecular sciences (16.11.2021)
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Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia
Ten Kate, Chantal A, de Klein, Annelies, de Graaf, Bianca M, Doukas, Michail, Koivusalo, Antti, Pakarinen, Mikko P, van der Helm, Robert, Brands, Tom, IJsselstijn, Hanneke, van Bever, Yolande, Wijnen, René M H, Spaander, Manon C W, Brosens, Erwin
Published in Cancers (20.01.2022)
Published in Cancers (20.01.2022)
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TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction
Zada, Almira, Kuil, Laura E., de Graaf, Bianca M., Kakiailatu, Naomi, Windster, Jonathan D., Brooks, Alice S., van Slegtenhorst, Marjon, de Koning, Barbara, Wijnen, René M. H., Melotte, Veerle, Hofstra, Robert M. W., Brosens, Erwin, Alves, Maria M.
Published in Frontiers in cell and developmental biology (08.07.2022)
Published in Frontiers in cell and developmental biology (08.07.2022)
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A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia
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
Published in American journal of human genetics (01.01.2003)
Published in American journal of human genetics (01.01.2003)
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Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
Bertoli-Avella, Aida M., MD, PhD, Gillis, Elisabeth, MSc, Morisaki, Hiroko, MD, PhD, Verhagen, Judith M.A., MD, de Graaf, Bianca M., BSc, van de Beek, Gerarda, BSc, Gallo, Elena, PhD, Kruithof, Boudewijn P.T., PhD, Venselaar, Hanka, PhD, Myers, Loretha A., BSc, Laga, Steven, MD, Doyle, Alexander J., MD, PhD, Oswald, Gretchen, MS, CGC, van Cappellen, Gert W.A., PhD, Yamanaka, Itaru, PhD, van der Helm, Robert M., BSc, Beverloo, Berna, PhD, de Klein, Annelies, PhD, Pardo, Luba, MD, PhD, Lammens, Martin, MD, PhD, Evers, Christina, MD, Devriendt, Koenraad, MD, PhD, Dumoulein, Michiel, MD, Timmermans, Janneke, MD, Bruggenwirth, Hennie T., PhD, Verheijen, Frans, PhD, Rodrigus, Inez, MD, Baynam, Gareth, MD, Kempers, Marlies, MD, PhD, Saenen, Johan, MD, PhD, Van Craenenbroeck, Emeline M., MD, PhD, Minatoya, Kenji, MD, PhD, Matsukawa, Ritsu, MD, PhD, Tsukube, Takuro, MD, PhD, Kubo, Noriaki, MD, PhD, Hofstra, Robert, PhD, Goumans, Marie Jose, PhD, Bekkers, Jos A., MD, PhD, Roos-Hesselink, Jolien W., MD, PhD, van de Laar, Ingrid M.B.H., MD, PhD, Dietz, Harry C., MD, Van Laer, Lut, PhD, Morisaki, Takayuki, MD, PhD, Wessels, Marja W., MD, PhD, Loeys, Bart L., MD, PhD
Published in Journal of the American College of Cardiology (07.04.2015)
Published in Journal of the American College of Cardiology (07.04.2015)
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
Bertoli-Avella, Aida M, van de Laar, Ingrid M B H, Oldenburg, Rogier A, Pals, Gerard, Roos-Hesselink, Jolien W, de Graaf, Bianca M, Verhagen, Judith M A, Hoedemaekers, Yvonne M, Willemsen, Rob, Severijnen, Lies-Anne, Venselaar, Hanka, Vriend, Gert, Pattynama, Peter M, Collée, Margriet, Majoor-Krakauer, Danielle, Poldermans, Don, Frohn-Mulder, Ingrid M E, Micha, Dimitra, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Bierma-Zeinstra, Sita M, Willems, Patrick J, Kros, Johan M, Oei, Edwin H G, Oostra, Ben A, Wessels, Marja W
Published in Nature genetics (01.02.2011)
Published in Nature genetics (01.02.2011)
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Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease
Sribudiani, Yunia, Chauhan, Rajendra K., Alves, Maria M., Petrova, Lucy, Brosens, Erwin, Harrison, Colin, Wabbersen, Tara, de Graaf, Bianca M., Rügenbrink, Tim, Burzynski, Grzegorz, Brouwer, Rutger W.W., van IJcken, Wilfred F.J., Maas, Saskia M., de Klein, Annelies, Osinga, Jan, Eggen, Bart J.L., Burns, Alan J., Brooks, Alice S., Shepherd, Iain T., Hofstra, Robert M.W.
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
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Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
van de Laar, Ingrid M B H, van der Linde, Denise, Oei, Edwin H G, Bos, Pieter K, Bessems, Johannes H, Bierma-Zeinstra, Sita M, van Meer, Belle L, Pals, Gerard, Oldenburg, Rogier A, Bekkers, Jos A, Moelker, Adriaan, de Graaf, Bianca M, Matyas, Gabor, Frohn-Mulder, Ingrid M E, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Cobben, Jan M, Bruggenwirth, Hennie T, van Laer, Lut, Loeys, Bart, De Backer, Julie, Coucke, Paul J, Dietz, Harry C, Willems, Patrick J, Oostra, Ben A, De Paepe, Anne, Roos-Hesselink, Jolien W, Bertoli-Avella, Aida M, Wessels, Marja W
Published in Journal of medical genetics (01.01.2012)
Published in Journal of medical genetics (01.01.2012)
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Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
MacKenzie, Katherine C., 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.
Published in Human mutation (01.11.2020)
Published in Human mutation (01.11.2020)
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Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder
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
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
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NPHP4 Variants Are Associated With Pleiotropic Heart Malformations
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
Published in Circulation research (08.06.2012)
Published in Circulation research (08.06.2012)
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A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity
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
Published in Pediatric nephrology (Berlin, West) (01.04.2008)
Published in Pediatric nephrology (Berlin, West) (01.04.2008)
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ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux
BERTOLI-AVELLA, Aida M, CONTE, Maria Luisa, OOSTRA, Ben A, PERROTTA, Silverio, PUNZO, Francesca, DE GRAAF, Bianca M, LAMA, Giuliana, LA MANNA, Angela, POLITO, Cesare, GRASSIA, Carolina, NOBILI, Bruno, FRANCESCO RAMBALDI, Pier
Published in Journal of the American Society of Nephrology (01.04.2008)
Published in Journal of the American Society of Nephrology (01.04.2008)
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A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
Wessels, Marja W., De Graaf, Bianca M., Cohen-Overbeek, Titia E., Spitaels, Silja E., de Groot-de Laat, Lotte E., Ten Cate, Folkert J., Frohn-Mulder, Ingrid F. M., de Krijger, Ronald, Bartelings, Margot M., Essed, Nienke, Wladimiroff, Jury W., Niermeijer, Martinus F., Heutink, Peter, Oostra, Ben A., Dooijes, Dennis, Bertoli-Avella, Aida M., Willems, Patrick J.
Published in Human genetics (2008)
Published in Human genetics (2008)
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Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left‐ventricular outflow tract obstruction
Wessels, Marja W., van de Laar, Ingrid M.B.H., Roos‐Hesselink, Jolien, Strikwerda, Sipke, Majoor‐Krakauer, Danielle F., de Vries, Bert B.A., Kerstjens‐Frederikse, Wilhelmina S., Vos, Yvonne J., de Graaf, Bianca M., Bertoli‐Avella, Aida M., Willems, Patrick J.
Published in American journal of medical genetics. Part A (01.02.2009)
Published in American journal of medical genetics. Part A (01.02.2009)
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A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
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.
Published in Neurogenetics (01.10.2009)
Published in Neurogenetics (01.10.2009)
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Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21–22
Rosso, Sonia M., Kamphorst, Wouter, de Graaf, Bianca, Willemsen, Rob, Ravid, Rivka, Niermeijer, Martinus F., Spillantini, Maria Grazia, Heutink, Peter, van Swieten, John C.
Published in Brain (London, England : 1878) (01.10.2001)
Published in Brain (London, England : 1878) (01.10.2001)
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