A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study

por Nosan, Gregor, Bertok, Sara, Vesel, Samo, Yntema, Helger G., Paro-Panjan, Darja
Publicado 2013

Título no disponible

por Nosan, Gregor, Bertok, Sara, Vesel, Samo, Yntema, Helger G., Paro-Panjan, Darja
Publicado 2014

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

por Yauy, Kevin, de Leeuw, Nicole, Yntema, Helger G., Pfundt, Rolph, Gilissen, Christian
Publicado 2019

Clinical exome sequencing—Mistakes and caveats

por Corominas, Jordi, Smeekens, Sanne P., Nelen, Marcel R., Yntema, Helger G., Kamsteeg, Erik‐Jan, Pfundt, Rolph, Gilissen, Christian
Publicado 2022

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

por Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian
Publicado 2023

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

por Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.
Publicado 2012

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

por Khazeeva, Gelana, Sablauskas, Karolis, van der Sanden, Bart, Steyaert, Wouter, Kwint, Michael, Rots, Dmitrijs, Hinne, Max, van Gerven, Marcel, Yntema, Helger, Vissers, Lisenka, Gilissen, Christian
Publicado 2022

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

por Rigter, Tessel, Henneman, Lidewij, Kristoffersson, Ulf, Hall, Alison, Yntema, Helger G, Borry, Pascal, Tönnies, Holger, Waisfisz, Quinten, Elting, Mariet W, Dondorp, Wybo J, Cornel, Martina C
Publicado 2013

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

por Runtuwene, Vincent, van Eekelen, Mark, Overvoorde, John, Rehmann, Holger, Yntema, Helger G., Nillesen, Willy M., van Haeringen, Arie, van der Burgt, Ineke, Burgering, Boudewijn, den Hertog, Jeroen
Publicado 2011

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 2016

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

por Steyaert, Wouter, Haer-Wigman, Lonneke, Pfundt, Rolph, Hellebrekers, Debby, Steehouwer, Marloes, Hampstead, Juliet, de Boer, Elke, Stegmann, Alexander, Yntema, Helger, Kamsteeg, Erik-Jan, Brunner, Han, Hoischen, Alexander, Gilissen, Christian
Publicado 2023

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman...

por Geerts‐Haages, Amber, Bossuyt, Stijn N. V., den Besten, Inge, Bruggenwirth, Hennie, van der Burgt, Ineke, Yntema, Helger G., Punt, A. Mattijs, Brooks, Alice, Elgersma, Ype, Distel, Ben, Valstar, Marlies
Publicado 2020

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

por Velde, Hedwig M., Huizenga, Xanne J. J., Yntema, Helger G., Haer-Wigman, Lonneke, Beynon, Andy J., Oostrik, Jaap, Pegge, Sjoert A. H., Kremer, Hannie, Lanting, Cris P., Pennings, Ronald J. E.
Publicado 2023

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

por Oud, Machteld M., Latour, Brooke L., Bakey, Zeineb, Letteboer, Stef J., Lugtenberg, Dorien, Wu, Ka Man, Cornelissen, Elisabeth A. M., Yntema, Helger G., Schmidts, Miriam, Roepman, Ronald, Bongers, Ernie M. H. F.
Publicado 2018

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

por Mundhofir, Farmaditya E. P., Nillesen, Willy M., Van Bon, Bregje W. M., Smeets, Dominique, Pfundt, Rolph, van de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri I., Hamel, Ben C. J., Yntema, Helger G., Faradz, Sultana M. H.
Publicado 2013

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

por Jongmans, Marjolijn C J, van der Burgt, Ineke, Hoogerbrugge, Peter M, Noordam, Kees, Yntema, Helger G, Nillesen, Willy M, Kuiper, Roland P, Ligtenberg, Marjolijn JL, van Kessel, Ad Geurts, van Krieken, J Han JM, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline
Publicado 2011

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

por van der Schoot, Vyne, Haer-Wigman, Lonneke, Feenstra, Ilse, Tammer, Femke, Oerlemans, Anke J. M., van Koolwijk, Martine P. A., van Agt, Frans, Arens, Yvonne H. J. M., Brunner, Han G., Vissers, Lisenka E. L. M., Yntema, Helger G.
Publicado 2021

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

por Stevens, Servi J. C., van Essen, Anthonie J., van Ravenswaaij, Conny M. A., Elias, Abdallah F., Haven, Jaclyn A., Lelieveld, Stefan H., Pfundt, Rolph, Nillesen, Willy M., Yntema, Helger G., van Roozendaal, Kees, Stegmann, Alexander P., Gilissen, Christian, Brunner, Han G.
Publicado 2016

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

por Blanchard, Maxime G, Willemsen, Marjolein H, Walker, Jaclyn B, Dib-Hajj, Sulayman D, Waxman, Stephen G, Jongmans, Marjolijn CJ, Kleefstra, Tjitske, van de Warrenburg, Bart P, Praamstra, Peter, Nicolai, Joost, Yntema, Helger G, Bindels, René JM, Meisler, Miriam H, Kamsteeg, Erik-Jan
Publicado 2015

Phenotypic and molecular insights into CASK-related disorders in males

por Moog, Ute, Bierhals, Tatjana, Brand, Kristina, Bautsch, Jan, Biskup, Saskia, Brune, Thomas, Denecke, Jonas, de Die-Smulders, Christine E, Evers, Christina, Hempel, Maja, Henneke, Marco, Yntema, Helger, Menten, Björn, Pietz, Joachim, Pfundt, Rolph, Schmidtke, Jörg, Steinemann, Doris, Stumpel, Constance T, Van Maldergem, Lionel, Kutsche, Kerstin
Publicado 2015