Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development

Por Cisse, Babacar, Caton, Michele L., Lehner, Manfred, Maeda, Takahiro, Scheu, Stefanie, Locksley, Richard, Holmberg, Dan, Zweier, Christiane, den Hollander, Nicolette S., Kant, Sarina G., Holter, Wolfgang, Rauch, Anita, Zhuang, Yuan, Reizis, Boris
Publicado em 2008

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Por Gijsbers, Antoinet CJ, Lew, Janet YK, Bosch, Cathy AJ, Schuurs-Hoeijmakers, Janneke HM, van Haeringen, Arie, den Hollander, Nicolette S, Kant, Sarina G, Bijlsma, Emilia K, Breuning, Martijn H, Bakker, Egbert, Ruivenkamp, Claudia AL
Publicado em 2009

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Por Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard
Publicado em 2009

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Por Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard
Publicado em 2009

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Por Nowakowska, Beata A, de Leeuw, Nicole, Ruivenkamp, Claudia AL, Sikkema-Raddatz, Birgit, Crolla, John A, Thoelen, Reinhilde, Koopmans, Marije, den Hollander, Nicolette, van Haeringen, Arie, van der Kevie-Kersemaekers, Anne-Marie, Pfundt, Rolph, Mieloo, Hanneke, van Essen, Ton, de Vries, Bert B A, Green, Andrew, Reardon, Willie, Fryns, Jean-Pierre, Vermeesch, Joris R
Publicado em 2012

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)

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Por O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publicado no Am J Hum Genet (2015)