Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20, 000 newborns

Authors: Vaz, Frédéric M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, Ron A., Nelen, Marcel R., Verrips, Aad, Bootsma, Albert H., Bouva, Marelle J., Kleise, Nick, van der Zee, Walter, He, Tao, Salomons, Gajja S., Huidekoper, Hidde H.

Source: Clinica chimica acta. 539:170-174

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183983645.0x000001&indx=1&recIds=ETOCvdc_100183983645.0x000001

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

Authors: de Bruijn, Suzanne E., Rodenburg, Kim, Corominas, Jordi, Ben-Yosef, Tamar, Reurink, Janine, Kremer, Hannie, Whelan, Laura, Plomp, Astrid S., Berger, Wolfgang, Farrar, G. Jane, Ferenc Kovács, Árpád, Fajardy, Isabelle, Hitti-Malin, Rebekkah J., Weisschuh, Nicole, Weener, Marianna E., Sharon, Dror, Pennings, Ronald J.E., Haer-Wigman, Lonneke, Hoyng, Carel B., Nelen, Marcel R., Vissers, Lisenka E.L.M., van den Born, L. Ingeborgh, Gilissen, Christian, Cremers, Frans P.M., Hoischen, Alexander, Neveling, Kornelia, Roosing, Susanne

Source: In Genetics in Medicine March 2023 25(3)

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

Authors: Vaz, Frédéric M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, Ron A., Nelen, Marcel R., Verrips, Aad, Bootsma, Albert H., Bouva, Marelle J., Kleise, Nick, van der Zee, Walter, He, Tao, Salomons, Gajja S., Huidekoper, Hidde H.

Source: In Clinica Chimica Acta 15 January 2023 539:170-174

Clinical exome sequencing—Mistakes and caveats

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

Source: Human mutation. 43(8):1041-1055

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158985168.0x000001&indx=1&recIds=ETOCvdc_100158985168.0x000001

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Authors: Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Prof. Dr, Hehir-Kwa, Jayne Y.

Source: In Genetics in Medicine June 2017 19(6):667-675

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

Authors: Eijkelenboom, Astrid, Kamping, Eveline J., Kastner-van Raaij, Annemiek W., Hendriks-Cornelissen, Sandra J., Neveling, Kornelia, Kuiper, Roland P., Hoischen, Alexander, Nelen, Marcel R., Ligtenberg, Marjolijn J.L., Tops, Bastiaan B.J.

Source: In The Journal of Molecular Diagnostics November 2016 18(6):851-863

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

Authors: Kuijpers, Taco W., de Vries, Andrica C. H., van Leeuwen, Ester M., Ermens, A. (Ton) A. M., de Pont, Saskia, Smith, Desirée E. C., Wamelink, Mirjam M. C., Mensenkamp, Arjen R., Nelen, Marcel R., Lango Allen, Hana, Pals, Steven T., Beverloo, Berna H. B., Huidekoper, Hidde H., Wagner, Anja

Source: In Blood Advances 22 November 2022 6(22):5829-5834

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

Authors: Kroes, Hester Y., van Zon, Patrick H.A., van de Putte, Dietje Fransen, Nelen, Marcel R., Nievelstein, Rutger-Jan, Wittebol-Post, Dienke, van Nieuwenhuizen, Onno, Mancini, Grazia M.S., van der Knaap, Marjo S., Kwee, Mei Lan, Maas, Saskia M., Cobben, Jan Maarten, De Nef, Jacques E.E., Lindhout, Dick, Sinke, Richard J.

Source: In European Journal of Medical Genetics 2008 51(1):24-34

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Authors: Haer-Wigman, Lonneke, den Ouden, Amber, van Genderen, Maria M., Kroes, Hester Y., Verheij, Joke, Smailhodzic, Dzenita, Hoekstra, Attje S., Vijzelaar, Raymon, Blom, Jan, Derks, Ronny, Tjon-Pon-Fong, Menno, Yntema, Helger G., Nelen, Marcel R., Vissers, Lisenka E.L.M., Lugtenberg, Dorien, Neveling, Kornelia

Source: NPJ Genomic Medicine; 11/9/2022, Vol. 7 Issue 1, p1-10, 10p

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Authors: van der Sanden, Bart P. G. H., Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A., Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T. R. M., Kleefstra, Tjitske, de Vries, Bert B. A., Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P., Stevens, Servi J., van den Wijngaard, Arthur, Brunner, Han G., Yntema, Helger G., Gilissen, Christian, Nelen, Marcel R., Vissers, Lisenka E. L. M.

Source: European Journal of Human Genetics: EJHG; January 2023, Vol. 31 Issue: 1 p81-88, 8p

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

Authors: Veldman, Abigail, Kiewiet, Mensiena B. G., Heiner-Fokkema, Margaretha Rebecca, Nelen, Marcel R., Sinke, Richard J., Sikkema-Raddatz, Birgit, Voorhoeve, Els, Westra, Dineke, Dollé, Martijn E. T., Schielen, Peter C. J. I., van Spronsen, Francjan J.

Source: International Journal of Neonatal Screening (IJNS); Mar2022, Vol. 8 Issue 1, p17-N.PAG, 11p

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

Authors: Smeets, Dominique F. C. M., Hamel, Ben C. J., Nelen, Marcel R.

Source: New England Journal of Medicine; March 19 1992, Vol. 326, p807-811, 5p

PTEN Mutation Analysis in Two Genetic Subtypes of High-Grade Oligodendroglial Tumors: PTEN is Only Occasionally Mutated in One of the Two Genetic Subtypes

Authors: Jeuken, Judith W.M. ^*, Nelen, Marcel R., Vermeer, Harry, van Staveren, Wilma C.G., Kremer, Hannie, van Overbeeke, Jacobus J., Boerman, Rudolf H.

Source: In Cancer Genetics and Cytogenetics May 2000 119(1):42-47

Activation Delay and VT Parameters in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Toward Improvement of Diagnostic ECG Criteria.

Authors: COX, MONIEK G.P.J.^1,2 (AUTHOR), NELEN, MARCEL R.³ (AUTHOR), WILDE, ARTHUR A.M.⁴ (AUTHOR), WIESFELD, ANS C.¹ (AUTHOR), SMAGT, JASPER, Jvd³ (AUTHOR), LOH, PETER¹ (AUTHOR), CRAMER, MAARTEN J.¹ (AUTHOR), DOEVENDANS, PIETER A.¹ (AUTHOR), TINTELEN, J. PETER v⁵ (AUTHOR), De BAKKER, JACQUES M.T.^1,2,4,6 (AUTHOR), HAUER, RICHARD N.W.¹ (AUTHOR)

Source: Journal of Cardiovascular Electrophysiology. Aug2008, Vol. 19 Issue 8, p775-781. 7p. 1 Black and White Photograph, 2 Charts, 2 Graphs.

Subject Terms: *DYSPLASIA, *CARDIOMYOPATHIES, *HEART disease diagnosis, *VENTRICULAR tachycardia, *ELECTROCARDIOGRAPHY, *ELECTROPHYSIOLOGY, *CARDIAC research

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations.

Authors: Nelen, Marcel R, Kremer, Hannie, Konings, Irene BM, Schoute, Frans, Essen, Anton J van, Koch, Rainer, Woods, C Geoffrey, Fryns, Jean-Pierre, Hamel, Ben, Hoefsloot, Lies H, Peeters, Els AJ, Padberg, George W

Source: European Journal of Human Genetics. Apr99, Vol. 7 Issue 3, p267. 7p.

Subject Terms: *GENETIC mutation, *TUMOR suppressor genes, TUMOR genetics

Long-read trio sequencing of individuals with unsolved intellectual disability

Authors: Pauper, Marc, Kucuk, Erdi, Wenger, Aaron M., Chakraborty, Shreyasee, Baybayan, Primo, Kwint, Michael, van der Sanden, Bart, Nelen, Marcel R., Derks, Ronny, Brunner, Han G., Hoischen, Alexander, Vissers, Lisenka E. L. M., Gilissen, Christian

Source: European Journal of Human Genetics: EJHG; 20210101, Issue: Preprints p1-12, 12p

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Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.

Authors: van Nimwegen, Kirsten J. M., van Soest, Ronald A., Veltman, Joris A., Nelen, Marcel R., van der Wilt, Gert Jan, Vissers, Lisenka E. L. M., Grutters, Janneke P. C.

Source: Clinical Chemistry; Nov2016, Vol. 62 Issue 11, p1458-1464, 7p, 4 Charts