Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analys...

Por Kooper, Angelique JA, Faas, Brigitte HW, Feenstra, Ilse, de Leeuw, Nicole, Smeets, Dominique FCM
Publicado em 2014

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial

Por Beulen, Lean, van den Berg, Michelle, Faas, Brigitte HW, Feenstra, Ilse, Hageman, Michiel, van Vugt, John MG, Bekker, Mireille N
Publicado no Eur J Hum Genet (2016)

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

Por Van de Kerkhof, Noortje WA, Feenstra, Ilse, van der Heijden, Frank MMA, de Leeuw, Nicole, Pfundt, Rolph, Stöber, Gerald, Egger, Jos IM, Verhoeven, Willem MA
Publicado em 2012

TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction

Por Ragancokova, Daniela, Rocca, Elena, Oonk, Anne M.M., Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald J.E., Wende, Hagen, Garratt, Alistair N.
Publicado em 2014

Guidelines for diagnostic next-generation sequencing

Por Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Publicado no Eur J Hum Genet (2016)

Guidelines for diagnostic next-generation sequencing

Por Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Publicado no Eur J Hum Genet (2016)

Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy

Por Kooper, Angelique J. A., Smeets, Dominique F. C. M., Feenstra, Ilse, Wijnberger, Lia D. E., Rijnders, Robbert J. P., Quartero, Rik W. P., Boekkooi, Peter F., van Vugt, John M. G., Smits, Arie P. T.
Publicado em 2013

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

Por Feenstra, Ilse, Hanemaaijer, Nicolien, Sikkema-Raddatz, Birgit, Yntema, Helger, Dijkhuizen, Trijnie, Lugtenberg, Dorien, Verheij, Joke, Green, Andrew, Hordijk, Roel, Reardon, William, Vries, Bert de, Brunner, Han, Bongers, Ernie, Leeuw, Nicole de, van Ravenswaaij-Arts, Conny
Publicado em 2011

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

Por Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.
Publicado em 2011

Why Do Parents Prefer to Know the Fetal Sex as Part of Invasive Prenatal Testing?

Por Kooper, Angelique J. A., Pieters, Jacqueline J. P. M., Eggink, Alex J., Feuth, Ton B., Feenstra, Ilse, Wijnberger, Lia D. E., Rijnders, Robbert J. P., Quartero, Rik W. P., Boekkooi, Peter F., van Vugt, John M. G., Smits, Arie P. T.
Publicado em 2012

Similar phenotypes caused by mutations in OTOG and OTOGL

Por Oonk, Anne M.M., Leijendeckers, Joop M., Huygen, Patrick L.M., Schraders, Margit, del Campo, Miguel, del Castillo, Ignacio, Tekin, Mustafa, Feenstra, Ilse, Beynon, Andy J., Kunst, Henricus P.M., Snik, Ad F.M., Kremer, Hannie, Admiraal, Ronald J.C., Pennings, Ronald J.E.
Publicado em 2014

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Por Ba, Wei, Yan, Yan, Reijnders, Margot R.F., Schuurs-Hoeijmakers, Janneke H.M., Feenstra, Ilse, Bongers, Ernie M.H.F., Bosch, Daniëlle G.M., De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F., Veltman, Joris A., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Nadif Kasri, Nael, De Vries, Bert B.A.
Publicado no Hum Mol Genet (2016)

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Por Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank
Publicado em 2012

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Por Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald JC, Pennings, Ronald JE, Kunst, Henricus PM, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia AM, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna GM, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie- José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Publicado no Eur J Hum Genet (2017)