Works matching AU Faas, Brigitte H. W.

Results: 22

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience.

Published in:

Andrology, 2025, v. 13, n. 5, p. 1078, doi. 10.1111/andr.13742

By:

Oud, Manon S.;
de Leeuw, Nicole;
Smeets, Dominique F. C. M.;
Ramos, Liliana;
van der Heijden, Godfried W.;
Timmermans, Raoul G. J.;
van de Vorst, Maartje;
Hofste, Tom;
Kempers, Marlies J. E.;
Stokman, Marijn F.;
D'Hauwers, Kathleen W. M.;
Faas, Brigitte H. W.;
Westra, Dineke

Publication type:

Article

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 9, p. 936, doi. 10.1038/ejhg.2012.285

By:

Croonen, Ellen A;
Nillesen, Willy M;
Stuurman, Kyra E;
Oudesluijs, Gretel;
van de Laar, Ingrid M B M;
Martens, Liesbeth;
Ockeloen, Charlotte;
Mathijssen, Inge B;
Schepens, Marga;
Ruiterkamp-Versteeg, Martina;
Scheffer, Hans;
Faas, Brigitte H W;
van der Burgt, Ineke;
Yntema, Helger G

Publication type:

Article

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 223, doi. 10.1111/j.1529-8027.2012.00402.x

By:

Voermans, Nicol C.;
Kleefstra, Tjitske;
Gabreëls-Festen, Anneke A.;
Faas, Brigitte H. W.;
Kamsteeg, Erik-Jan;
Houlden, Henry;
Laurá, Matilde;
Polke, James M.;
Pandraud, Amelie;
van Ruissen, Fred;
van Engelen, Baziel G.;
Reilly, Mary M.

Publication type:

Article

Maternal Malignancies Detected With Noninvasive Prenatal Testing.

Published in:

2015

By:

Sistermans, Erik;
Straver, Roy;
Faas, Brigitte H. W.

Publication type:

commentary

Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations.

Published in:

2016

By:

Neveling, Kornelia;
Tjwan Thung, Djie;
Beulen, Lean;
Rens‐Buijsman, Wendy;
Gomes, Ingrid;
Heuvel, Simone;
Mieloo, Hanneke;
Derks‐Prinsen, Irma;
Kater‐Baats, Ellen;
Faas, Brigitte H. W.

Publication type:

journal article

Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.

Published in:

Prenatal Diagnosis, 2015, v. 35, n. 6, p. 549, doi. 10.1002/pd.4571

By:

Beulen, Lean;
Grutters, Janneke P. C.;
Faas, Brigitte H. W.;
Feenstra, Ilse;
Groenewoud, Hans;
Vugt, John M. G.;
Bekker, Mireille N.

Publication type:

Article

The 2014 Malcolm Ferguson-Smith Young Investigator Award.

Published in:

2015

By:

Bianchi, Diana W.;
Chitty, Lyn S.;
Deprest, Jan;
Faas, Brigitte H. W.;
Ghidini, Alessandro;
Cousens, Rupert K. J.

Publication type:

Editorial

Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a priori risk.

Published in:

2015

By:

Van Lith, Jan M. M.;
Faas, Brigitte H. W.;
Bianchi, Diana W.

Publication type:

Other

The 2013 Malcolm Ferguson-Smith Young Investigator Award.

Published in:

2014

By:

Bianchi, Diana W.;
Chitty, Lyn S.;
Deprest, Jan;
Faas, Brigitte H. W.;
Ghidini, Alessandro;
Cousens, Rupert K. J.

Publication type:

Editorial

Comment on 'Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization'.

Published in:

2014

By:

Kooper, Angelique J. A.;
Faas, Brigitte H. W.

Publication type:

Other

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.

Published in:

Prenatal Diagnosis, 2014, v. 34, n. 4, p. 402, doi. 10.1002/pd.4312

By:

Buysse, Karen;
Ligt, Joep;
Janssen, Irene M.;
Bon, Bregje W. M.;
Gomes, Ingrid;
Hehir‐Kwa, Jayne;
Eggink, Alex J.;
Vugt, John M. G.;
Vissers, Lisenka E. L. M.;
Geurts van Kessel, Ad;
Faas, Brigitte H. W.

Publication type:

Article

In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.

Published in:

Prenatal Diagnosis, 2014, v. 34, n. 1, p. 1, doi. 10.1002/pd.4288

By:

Bianchi, Diana W.;
Van Mieghem, Tim;
Shaffer, Lisa G.;
Faas, Brigitte H. W.;
Chitty, Lyn S.;
Ghidini, Alessandro;
Deprest, Jan

Publication type:

Article

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies.

Published in:

Prenatal Diagnosis, 2013, v. 33, n. 6, p. 563, doi. 10.1002/pd.4111

By:

Boon, Elles M. J.;
Faas, Brigitte H. W.

Publication type:

Article

Summary of the ISPD Preconference Day, June 3, 2012, Miami Beach Summary of the ISPD Preconference Day, June 3, 2012, Miami Beach.

Published in:

Prenatal Diagnosis, 2013, v. 33, n. 1, p. 1, doi. 10.1002/pd.4007

By:

Faas, Brigitte H. W.;
Odibo, Anthony O.;
Cirigliano, V.;
Schielen, P.;
Pergament, D.;
Devers, P.;
Oepkes, D.;
Benn, P.

Publication type:

Article

2010 Report from the ISPD Special Interest Groups.

Published in:

Prenatal Diagnosis, 2011, v. 31, n. 3, p. 246, doi. 10.1002/pd.2686

By:

Odibo, Anthony O.;
Faas, Brigitte H. W.;
Oepkes, Dick;
Leung, T. Y.;
Shulman, Lee

Publication type:

Article

Multiplex Ligation-dependent Probe Amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.

Published in:

Prenatal Diagnosis, 2008, v. 28, n. 11, p. 1004, doi. 10.1002/pd.2111

By:

Kooper, Angelique J. A.;
Faas, Brigitte H. W.;
Kater-Baats, Ellen;
Feuth, Ton;
Janssen, Jasper C. J. A.;
van der Burgt, Ineke;
Lotgering, Fred K.;
Geurts van Kessel, Ad;
Smits, Arie P. T.

Publication type:

Article

Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects.

Published in:

2007

By:

Kooper, Angelique J. A.;
de Bruijn, Dagmar;
van Ravenwaaij-Arts, Conny M. A.;
Faas, Brigitte H. W.;
Creemers, Johan W. T.;
Thomas, Chris M. G.;
Smits, Arie P. T.

Publication type:

journal article

Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data.

Published in:

Clinical Chemistry, 2024, v. 70, n. 8, p. 1056, doi. 10.1093/clinchem/hvae068

By:

Smeekens, Sanne P;
Timmermans, Raoul;
Westra, Dineke;
Gilissen, Christian;
Faas, Brigitte H W

Publication type:

Article

Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations.

Published in:

Clinical Chemistry, 2017, v. 63, n. 2, p. 495, doi. 10.1373/clinchem.2016.254813

By:

Yu, Stephanie C. Y.;
Peiyong Jiang;
Chan, K. C. Allen;
Faas, Brigitte H. W.;
Choy, Kwong W.;
Leung, Wing C.;
Leung, Tak Y.;
Lo, Y. M. Dennis;
Chiu, Rossa W. K.

Publication type:

Article

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.

Published in:

Clinical Chemistry, 2015, v. 61, n. 12, p. 1515, doi. 10.1373/clinchem.2015.244962

By:

Mersy, Elke;
Faas, Brigitte H. W.;
Spierts, Sabine;
Houben, Leonie M. H.;
Macville, Merryn V. E.;
Frints, Suzanna G. M.;
Paulussen, Aimee D. C.;
Veltman, Joris A.

Publication type:

Article

All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience.

Published in:

Prenatal Diagnosis, 2023, v. 43, n. 4, p. 527, doi. 10.1002/pd.6314

By:

Faas, Brigitte H. W.;
Westra, Dineke;
de Munnik, Sonja A.;
van Rij, Maartje;
Marcelis, Carlo;
Joosten, Sara;
Krapels, Ingrid;
Vernimmen, Vivian;
Heijligers, Malou;
Willemsen, Marjolein H.;
de Leeuw, Nicole;
Rinne, Tuula;
Pfundt, Rolph;
Smeekens, Sanne P.;
Stegmann, Sander P. A.;
Macville, Merryn;
Sikkel, Esther;
Coumans, Audrey;
Wijnberger, Lia;
Derks, Irma

Publication type:

Article

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 analysis.

Published in:

Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-6

By:

Kooper, Angelique J. A.;
Faas, Brigitte H. W.;
Feenstra, Ilse;
De Leeuw, Nicole;
Smeets, Dominique F. C. M.

Publication type:

Article