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 não disponível

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 en Genet Med (2019)

The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study

por Schoot, Vyne van der, Viellevoije, Simone J., Tammer, Femke, Brunner, Han G., Arens, Yvonne, Yntema, Helger G., Oerlemans, Anke J. M.
Publicado en Eur J Hum Genet (2021)

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

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 en Hum Mutat (2013)

1 in 38 individuals at risk of a dominant medically actionable disease

por Haer-Wigman, Lonneke, van der Schoot, Vyne, Feenstra, Ilse, Vulto-van Silfhout, Anneke T., Gilissen, Christian, Brunner, Han G., Vissers, Lisenka E. L. M., Yntema, Helger G.
Publicado en Eur J Hum Genet (2018)

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

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

por Glaudemans, Bob, Yntema, Helger G, San-Cristobal, Pedro, Schoots, Jeroen, Pfundt, Rolph, Kamsteeg, Erik-J, Bindels, René J, Knoers, Nine VAM, Hoenderop, Joost G, Hoefsloot, Lies H
Publicado 2012

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

por Fridman, Hila, Yntema, Helger G., Mägi, Reedik, Andreson, Reidar, Metspalu, Andres, Mezzavila, Massimo, Tyler-Smith, Chris, Xue, Yali, Carmi, Shai, Levy-Lahad, Ephrat, Gilissen, Christian, Brunner, Han G.
Publicado en Am J Hum Genet (2021)

Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome T...

por van Wijk, Erwin, Pennings, Ronald J. E., te Brinke, Heleen, Claassen, Annemarie, Yntema, Helger G., Hoefsloot, Lies H., Cremers, Frans P. M., Cremers, Cor. W. R. J., Kremer, Hannie
Publicado 2004

Predictors and risk model development for menopausal age in fragile x premutation carriers

por Spath, Marian A., Feuth, Ton B., Smits, Arie P.T., Yntema, Helger G., Braat, Didi D.M., Thomas, Chris M.G., van Kessel, Ad Geurts, Sherman, Stephanie L., Allen, Emily G.
Publicado 2011

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 en Mol Genet Genomic Med (2020)

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

por Rosenberg, Efraim H., Almeida, Ligia S., Kleefstra, Tjitske, deGrauw, Rose S., Yntema, Helger G., Bahi, Nadia, Moraine, Claude, Ropers, Hans-Hilger, Fryns, Jean-Pierre, deGrauw, Ton J., Jakobs, Cornelis, Salomons, Gajja S.
Publicado 2004

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 en Cilia (2018)

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

por Beunders, Gea, de Munnik, Sonja A, Van der Aa, Nathalie, Ceulemans, Berten, Voorhoeve, Els, Groffen, Alexander J, Nillesen, Willy M, Meijers-Heijboer, Elizabeth J, Frank Kooy, R, Yntema, Helger G, Sistermans, Erik A
Publicado en Eur J Hum Genet (2015)

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

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

por Bongers, Ernie M. H. F., Duijf, Pascal H. G., van Beersum, Sylvia E. M., Schoots, Jeroen, van Kampen, Albert, Burckhardt, Andreas, Hamel, Ben C. J., Lošan, František, Hoefsloot, Lies H., Yntema, Helger G., Knoers, Nine V. A. M., van Bokhoven, Hans
Publicado 2004

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 en Genome Med (2016)