A review on age‐related cancer risks in PTEN hamartoma tumor syndrome

por Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Schuurs‐Hoeijmakers, Janneke H.M., Vos, Janet R.
Publicado 2020

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

por Peters, Bram, Schuurs-Hoeijmakers, Janneke H. M., Fuijkschot, Joris, Reimer, Annette, van der Flier, Michiel, Lugtenberg, Dorien, Hoppenreijs, Esther P.A.H.
Publicado 2016

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

por Veldman, Bram C. F., Kuper, Willemijn F. E., Lilien, Marc, Schuurs‐Hoeijmakers, Janneke H. M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., van Hasselt, Peter M., Haijes, Hanneke A.
Publicado 2021

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

por van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.
Publicado 2018

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

por Lefeber, Dirk J., de Brouwer, Arjan P. M., Morava, Eva, Riemersma, Moniek, Schuurs-Hoeijmakers, Janneke H. M., Absmanner, Birgit, Verrijp, Kiek, van den Akker, Willem M. R., Huijben, Karin, Steenbergen, Gerry, van Reeuwijk, Jeroen, Jozwiak, Adam, Zucker, Nili, Lorber, Avraham, Lammens, Martin, Knopf, Carlos, van Bokhoven, Hans, Grünewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna, Wevers, Ron A.
Publicado 2011

A SWI/SNF related autism syndrome caused by de novo mutations in ADNP

por Helsmoortel, Céline, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo L., Willemsen, Marjolein H., Vissers, Lisenka E.L.M., Yntema, Helger G., Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Kooy, R. Frank, Eichler, Evan E., Van der Aa, Nathalie
Publicado 2014

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

por Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Publicado 2017

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

por Arts, Peer, Simons, Annet, AlZahrani, Mofareh S., Yilmaz, Elanur, AlIdrissi, Eman, van Aerde, Koen J., Alenezi, Njood, AlGhamdi, Hamza A., AlJubab, Hadeel A., Al-Hussaini, Abdulrahman A., AlManjomi, Fahad, Alsaad, Alaa B., Alsaleem, Badr, Andijani, Abdulrahman A., Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal P., van Deuren, Marcel, van der Flier, Michiel, Gerkes, Erica H., Gilissen, Christian, Habazi, Murad K., Hehir-Kwa, Jayne Y., Henriet, Stefanie S., Hoppenreijs, Esther P., Hortillosa, Sarah, Kerkhofs, Chantal H., Keski-Filppula, Riikka, Lelieveld, Stefan H., Lone, Khurram, MacKenzie, Marius A., Mensenkamp, Arjen R., Moilanen, Jukka, Nelen, Marcel, ten Oever, Jaap, Potjewijd, Judith, van Paassen, Pieter, Schuurs-Hoeijmakers, Janneke H. M., Simon, Anna, Stokowy, Tomasz, van de Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, van Well, Gijs T. J., Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris A., van Zelst-Stams, Wendy A. G., Faqeih, Eissa A., van de Veerdonk, Frank L., Netea, Mihai G., Hoischen, Alexander
Publicado 2019