No vessel wall abnormalities in a human foetus with a NOTCH3 mutation

por Lesnik Oberstein, Saskia A. J., Maat–Schieman, Marion L. C., Boon, Elles M. J., Haan, Joost, Breuning, Martijn H., van Duinen, Sjoerd G.
Publicado 2008

Mrassf1a-Pap, a Novel Methylation-Based Assay for the Detection of Cell-Free Fetal DNA in Maternal Plasma

por van den Oever, Jessica M. E., Balkassmi, Sahila, Segboer, Tim, Verweij, E. Joanne, van der Velden, Pieter A., Oepkes, Dick, Bakker, Egbert, Boon, Elles M. J.
Publicado 2013

Comparing methods for fetal fraction determination and quality control of NIPT samples

por van Beek, Daphne M., Straver, Roy, Weiss, Marian M., Boon, Elles M. J., Huijsdens‐van Amsterdam, Karin, Oudejans, Cees B. M., Reinders, Marcel J. T., Sistermans, Erik A.
Publicado 2017

Response to letter to the editor PD‐17‐0390, a comment on “Comparing methods for fetal fraction determination and quality control of NIPT samples”

por van Beek, Daphne M., Straver, Roy, Weiss, Marjan M., Boon, Elles M.J., Huijsdens‐van Amsterdam, Karin, Oudejans, Cees B.M., Reinders, Marcel J.T., Sistermans, Erik A.
Publicado 2017

Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation

por Kos, Renate, Israëls, Joël, van Gogh, Christine D. L., Altenburg, Josje, Diepenhorst, Sandra, Paff, Tamara, Boon, Elles M. J., Micha, Dimitra, Pals, Gerard, Neerincx, Anne H., Maitland‐van der Zee, Anke H., Haarman, Eric G.
Publicado 2022

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

por Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Boon, Elles M. J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, van Langen, Irene M., Sinke, Richard J., te Meerman, Gerard J.
Publicado 2016

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

por Kleinendorst, Lotte, Abawi, Ozair, van der Voorn, Bibian, Jongejan, Mieke H. T. M., Brandsma, Annelies E., Visser, Jenny A., van Rossum, Elisabeth F. C., van der Zwaag, Bert, Alders, Mariëlle, Boon, Elles M. J., van Haelst, Mieke M., van den Akker, Erica L. T.
Publicado 2020

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

por Kleinendorst, Lotte, Abawi, Ozair, van der Voorn, Bibian, Jongejan, Mieke H. T. M., Brandsma, Annelies E., Visser, Jenny A., van Rossum, Elisabeth F. C., van der Zwaag, Bert, Alders, Mariëlle, Boon, Elles M. J., van Haelst, Mieke M., van den Akker, Erica L. T.
Publicado 2020

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

por Oepkes, Dick, Page‐Christiaens, G. C. (Lieve), Bax, Caroline J., Bekker, Mireille N., Bilardo, Catia M., Boon, Elles M. J., Schuring‐Blom, G. Heleen, Coumans, Audrey B. C., Faas, Brigitte H., Galjaard, Robert‐Jan H., Go, Attie T., Henneman, Lidewij, Macville, Merryn V. E., Pajkrt, Eva, Suijkerbuijk, Ron F., Huijsdens‐van Amsterdam, Karin, Van Opstal, Diane, Verweij, E. J. (Joanne), Weiss, Marjan M., Sistermans, Erik A.
Publicado 2016

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

por Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.
Publicado 2021

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

por Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.
Publicado 2021