Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome
de Koning, Heleen D., MD, van Gijn, Mariëlle E., MD, PhD, Stoffels, Monique, PhD, Jongekrijg, Johanna, BSc, Zeeuwen, Patrick L.J.M., PhD, Elferink, Martin G., PhD, Nijman, Isaac J., PhD, Jansen, Patrick A.M., PhD, Neveling, Kornelia, PhD, van der Meer, Jos W.M., MD, PhD, Schalkwijk, Joost, PhD, Simon, Anna, MD, PhD
Published in Journal of allergy and clinical immunology (01.02.2015)
Published in Journal of allergy and clinical immunology (01.02.2015)
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Journal Article
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
Ramirez-Martinez, Andres, Zhang, Yichi, van den Boogaard, Marie-Jose, McAnally, John R, Rodriguez-Caycedo, Cristina, Chai, Andreas C, Chemello, Francesco, Massink, Maarten Pg, Cuppen, Inge, Elferink, Martin G, van Es, Robert Jj, Janssen, Nard G, Walraven-van Oijen, Linda Pam, Liu, Ning, Bassel-Duby, Rhonda, van Jaarsveld, Richard H, Olson, Eric N
Published in The Journal of clinical investigation (01.06.2022)
Published in The Journal of clinical investigation (01.06.2022)
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Journal Article
Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken
Elferink, M.G, Vallee, N, Jungerius, B.J, Crooijmans, R.P.M.A, Groenen, M.A.M
Published in BMC genomics (20.08.2008)
Published in BMC genomics (20.08.2008)
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Journal Article
Regional differences in recombination hotspots between two chicken populations
Elferink, M.G, As, P. van, Veenendaal, A, Crooijmans, R.P.M.A, Groenen, M.A.M
Published in BMC genetics (08.02.2010)
Published in BMC genetics (08.02.2010)
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Journal Article
Genetics-first approach improves diagnostics of ESKD patients <50 years old
Snoek, Rozemarijn, van Jaarsveld, Richard H, Nguyen, Tri Q, Peters, Edith D J, Elferink, Martin G, Ernst, Robert F, Rookmaaker, Maarten B, Lilien, Marc R, Spierings, Eric, Goldschmeding, Roel, Knoers, Nine V A M, van der Zwaag, Bert, van Zuilen, Arjan D, van Eerde, Albertien M
Published in Nephrology, dialysis, transplantation (25.01.2022)
Published in Nephrology, dialysis, transplantation (25.01.2022)
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Journal Article
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
Van Opstal, Diane, van Maarle, Merel C, Lichtenbelt, Klaske, Weiss, Marjan M, Schuring-Blom, Heleen, Bhola, Shama L, Hoffer, Mariette J V, Huijsdens-van Amsterdam, Karin, Macville, Merryn V, Kooper, Angelique J A, Faas, Brigitte H W, Govaerts, Lutgarde, Tan-Sindhunata, Gita M, den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H, Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W W, Beulen, Lean, Bollen, Sander, Elferink, Martin G, Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C, Sistermans, Erik A
Published in Genetics in medicine (01.05.2018)
Published in Genetics in medicine (01.05.2018)
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Journal Article
Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
Nijman, Isaac J., PhD, van Montfrans, Joris M., MD, PhD, Hoogstraat, Marlous, BAS, Boes, Marianne L., PhD, van de Corput, Lisette, PhD, Renner, Ellen D., MD, PhD, van Zon, Patrick, BSc, van Lieshout, Stef, BSc, Elferink, Martin G., PhD, van der Burg, Mirjam, PhD, Vermont, Clementien L., MD, PhD, van der Zwaag, Bert, PhD, Janson, Esther, BSc, Cuppen, Edwin, PhD, Ploos van Amstel, Johannes K., PhD, van Gijn, Marielle E., PhD
Published in Journal of allergy and clinical immunology (01.02.2014)
Published in Journal of allergy and clinical immunology (01.02.2014)
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Journal Article
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease
Claus, Laura R., Ernst, Robert F., Elferink, Martin G., van Deutekom, Hanneke W.M., van der Zwaag, Bert, van Eerde, Albertien M.
Published in Kidney international reports (01.09.2024)
Published in Kidney international reports (01.09.2024)
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Journal Article
Whole genome SNP discovery and analysis of genetic diversity in Turkey (Meleagris gallopavo)
Aslam, Muhammad L, Bastiaansen, John W M, Elferink, Martin G, Megens, Hendrik-Jan, Crooijmans, Richard P M A, Blomberg, Le Ann, Fleischer, Robert C, Van Tassell, Curtis P, Sonstegard, Tad S, Schroeder, Steven G, Groenen, Martien A M, Long, Julie A
Published in BMC genomics (14.08.2012)
Published in BMC genomics (14.08.2012)
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Journal Article
Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin
Hochstenbach, Ron, Elferink, Martin G., Zon, Patrick H. A., Lichtenbelt, Klaske D., Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C.M.L.
Published in Clinical case reports (01.05.2018)
Published in Clinical case reports (01.05.2018)
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Journal Article
Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cf DNA by a demised trisomy‐14 cotwin
Hochstenbach, Ron, Elferink, Martin G., van Zon, Patrick H. A., Lichtenbelt, Klaske D., van Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C.M.L.
Published in Clinical case reports (01.05.2018)
Published in Clinical case reports (01.05.2018)
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Journal Article
Cell‐free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case
Hochstenbach, Ron, Nikkels, Peter G. J., Elferink, Martin G., Oudijk, Martijn A., Oppen, Carla, Zon, Patrick, Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C. M. L.
Published in Clinical case reports (01.06.2015)
Published in Clinical case reports (01.06.2015)
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Journal Article
Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin
Hochstenbach, Ron, Elferink, Martin G, van Zon, Patrick H A, Lichtenbelt, Klaske D, van Harssel, Jeske, Schuring-Blom, Heleen, Page-Christiaens, Godelieve C M L
Published in Clinical case reports (01.05.2018)
Published in Clinical case reports (01.05.2018)
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Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case
Hochstenbach, Ron, Nikkels, Peter G J, Elferink, Martin G, Oudijk, Martijn A, van Oppen, Carla, van Zon, Patrick, van Harssel, Jeske, Schuring-Blom, Heleen, Page-Christiaens, Godelieve C M L
Published in Clinical case reports (01.06.2015)
Published in Clinical case reports (01.06.2015)
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