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X-linked creatine transporter ( SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Published in:
Human Genetics, 2006, v. 119, n. 6, p. 604, doi. 10.1007/s00439-006-0162-9
By:
- Clark, Amy J.;
- Rosenberg, Efraim H.;
- Almeida, Ligia S.;
- Wood, Tim C.;
- Jakobs, Cornelis;
- Stevenson, Roger E.;
- Schwartz, Charles E.;
- Salomons, Gajja S.
Publication type:
Article
Homologous Recombination Deficiency and Cyclin E1 Amplification Are Correlated with Immune Cell Infiltration and Survival in High-Grade Serous Ovarian Cancer.
Published in:
Cancers, 2022, v. 14, n. 23, p. 5965, doi. 10.3390/cancers14235965
By:
- van Wagensveld, Lilian;
- van Baal, Juliette O. A. M.;
- Timmermans, Maite;
- Gaillard, Duco;
- Borghuis, Lauri;
- Coffelt, Seth B.;
- Rosenberg, Efraim H.;
- Lok, Christianne A. R.;
- Nijman, Hans W.;
- Kooreman, Loes F. S.;
- Sanders, Joyce;
- de Bruijn, Marco;
- Wessels, Lodewyk F. A.;
- van der Wiel, Rianne;
- Rausch, Christian;
- Broeks, Annegien;
- Kruitwagen, Roy F. P. M.;
- van der Aa, Maaike A.;
- Sonke, Gabe S.;
- Schouten, Philip C.
Publication type:
Article
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134
By:
- Betsalel, Ofir T.;
- Rosenberg, Efraim H.;
- Almeida, Ligia S.;
- Kleefstra, Tjitske;
- Schwartz, Charles E.;
- Valayannopoulos, Vassili;
- Abdul-Rahman, Omar;
- Poplawski, Nicola;
- Vilarinho, Laura;
- Wolf, Philipp;
- den Dunnen, Johan T.;
- Jakobs, Cornelis;
- Salomons, Gajja S.
Publication type:
Article
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Published in:
Annals of Neurology, 2009, v. 65, n. 5, p. 550, doi. 10.1002/ana.21568
By:
- Gallagher, Renata C.;
- Van Hove, Johan L. K.;
- Scharer, Gunter;
- Hyland, Keith;
- Plecko, Barbara;
- Waters, Paula J.;
- Mercimek-Mahmutoglu, Saadet;
- Stockler-Ipsiroglu, Sylvia;
- Salomons, Gajja S.;
- Rosenberg, Efraim H.;
- Struys, Eduard A.;
- Jakobs, Cornelis
Publication type:
Article
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.699
By:
- Geurts‐Giele, Willemina R.;
- Rosenberg, Efraim H.;
- Rens, Anja van;
- Leerdam, Monique E. van;
- Dinjens, Winand N.;
- Bleeker, Fonnet E.
Publication type:
Article
Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene.
Published in:
Genes, Chromosomes & Cancer, 2001, v. 31, n. 3, p. 274, doi. 10.1002/gcc.1144
By:
- Taschner, Peter E.M.;
- Jansen, Jeroen C.;
- Baysal, Bora E.;
- Bosch, Anne;
- Rosenberg, Efraim H.;
- Bröcker-Vriends, Annette H.J.T.;
- van der Mey, Andel G.L.;
- van Ommen, Gert-Jan B.;
- Cornelisse, Cees J.;
- Devilee, Peter
Publication type:
Article
Molecular characterization of gastric adenocarcinoma diagnosed in patients previously treated for Hodgkin lymphoma or testicular cancer.
Published in:
PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0270591
By:
- Rigter, Lisanne S.;
- Snaebjornsson, Petur;
- Rosenberg, Efraim H.;
- Altena, Estelle;
- van Grieken, Nicole C. T.;
- Aleman, Berthe M. P.;
- Kerst, Jan M.;
- Morton, Lindsay;
- Schaapveld, Michael;
- Meijer, Gerrit A.;
- van Leeuwen, Flora E.;
- van Leerdam, Monique E.
Publication type:
Article
Functional characterization of missense variants in the creatine transporter gene ( SLC6A8): improved diagnostic application.
Published in:
Human Mutation, 2007, v. 28, n. 9, p. 890, doi. 10.1002/humu.20532
By:
- Rosenberg, Efraim H.;
- Martínez Muñoz, Cristina;
- Betsalel, Ofir T.;
- van Dooren, Silvy J.M.;
- Fernandez, Matilde;
- Jakobs, Cornelis;
- deGrauw, Ton J.;
- Kleefstra, Tjitske;
- Schwartz, Charles E.;
- Salomons, Gajja S.
Publication type:
Article
Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice.
Published in:
Nature Protocols, 2024, v. 19, n. 3, p. 700, doi. 10.1038/s41596-023-00933-5
By:
- Samsom, Kris G.;
- Bosch, Linda J. W.;
- Schipper, Luuk J.;
- Schout, Daoin;
- Roepman, Paul;
- Boelens, Mirjam C.;
- Lalezari, Ferry;
- Klompenhouwer, Elisabeth G.;
- de Langen, Adrianus J.;
- Buffart, Tineke E.;
- van Linder, Berit M. H.;
- van Deventer, Kelly;
- van den Burg, Kay;
- Unmehopa, Unga;
- Rosenberg, Efraim H.;
- Koster, Roelof;
- Hogervorst, Frans B. L.;
- van den Berg, José G.;
- Riethorst, Immy;
- Schoenmaker, Lieke
Publication type:
Article
Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.
Published in:
BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-023-03233-7
By:
- Wang, Yuwei;
- Dackus, Gwen M. H. E.;
- Rosenberg, Efraim H.;
- Cornelissen, Sten;
- de Boo, Leonora W.;
- Broeks, Annegien;
- Brugman, Wim;
- Chan, Terry W. S.;
- van Diest, Paul J.;
- Hauptmann, Michael;
- ter Hoeve, Natalie D.;
- Isaeva, Olga I.;
- de Jong, Vincent M. T.;
- Jóźwiak, Katarzyna;
- Kluin, Roelof J. C.;
- Kok, Marleen;
- Koop, Esther;
- Nederlof, Petra M.;
- Opdam, Mark;
- Schouten, Philip C.
Publication type:
Article

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