E
Efraim H. Rosenberg
Researcher at Netherlands Cancer Institute
Publications - 36
Citations - 2166
Efraim H. Rosenberg is an academic researcher from Netherlands Cancer Institute. The author has contributed to research in topics: Population & Medicine. The author has an hindex of 18, co-authored 28 publications receiving 2011 citations. Previous affiliations of Efraim H. Rosenberg include VU University Medical Center & Leiden University Medical Center.
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Journal ArticleDOI
RAD51B in Familial Breast Cancer
Liisa M. Pelttari,Sofia Khan,Mikko Vuorela,Johanna I. Kiiski,Sara Vilske,Viivi Nevanlinna,Salla Ranta,Johanna Schleutker,Johanna Schleutker,Johanna Schleutker,Robert Winqvist,Anne Kallioniemi,Thilo Dörk,Natalia Bogdanova,Jonine Figueroa,Paul D.P. Pharoah,Marjanka K. Schmidt,Alison M. Dunning,Montserrat Garcia-Closas,Manjeet K. Bolla,Joe Dennis,Kyriaki Michailidou,Qin Wang,John L. Hopper,Melissa C. Southey,Efraim H. Rosenberg,Peter A. Fasching,Peter A. Fasching,Matthias W. Beckmann,Julian Peto,Isabel dos-Santos-Silva,Elinor J. Sawyer,Ian Tomlinson,Barbara Burwinkel,Barbara Burwinkel,Harald Surowy,Harald Surowy,Pascal Guénel,Thérèse Truong,Stig E. Bojesen,Stig E. Bojesen,Børge G. Nordestgaard,Børge G. Nordestgaard,Javier Benitez,Anna González-Neira,Susan L. Neuhausen,Hoda Anton-Culver,Hermann Brenner,Volker Arndt,Alfons Meindl,Rita K. Schmutzler,Hiltrud Brauch,Hiltrud Brauch,Hiltrud Brauch,Thomas Brüning,Annika Lindblom,Sara Margolin,Arto Mannermaa,Jaana M. Hartikainen,Georgia Chenevix-Trench,kConFab,kConFab,Aocs Investigators,Laurien Van Dyck,Hilde Janssen,Hilde Janssen,Jenny Chang-Claude,Anja Rudolph,Paolo Radice,Paolo Peterlongo,Emily Hallberg,Janet E. Olson,Janet E. Olson,Graham G. Giles,Graham G. Giles,Roger L. Milne,Christopher A. Haiman,Fredrick Schumacher,Jacques Simard,Martine Dumont,Martine Dumont,Vessela N. Kristensen,Vessela N. Kristensen,Anne Lise Børresen-Dale,Wei Zheng,Alicia Beeghly-Fadiel,Mervi Grip,Mervi Grip,Irene L. Andrulis,Gord Glendon,Peter Devilee,Caroline Seynaeve,Maartje J. Hooning,Margriet Collée,Angela Cox,Simon S. Cross,Mitul Shah,Robert Luben,Ute Hamann,Ute Hamann,Diana Torres,Anna Jakubowska,Jan Lubinski,Fergus J. Couch,Drakoulis Yannoukakos,Nick Orr,Anthony J. Swerdlow,Hatef Darabi,Jingmei Li,Kamila Czene,Per Hall,Douglas F. Easton,Johanna Mattson,Carl Blomqvist,Kristiina Aittomäki,Heli Nevanlinna +115 more
TL;DR: It is suggested that loss-of-function mutations in RAD 51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.
Journal ArticleDOI
Phase II Study of WEE1 Inhibitor AZD1775 Plus Carboplatin in Patients With TP53-Mutated Ovarian Cancer Refractory or Resistant to First-Line Therapy Within 3 Months.
Suzanne Leijen,Robin M.J.M. van Geel,Gabe S. Sonke,Daphne de Jong,Efraim H. Rosenberg,Serena Marchetti,Dick Pluim,Erik van Werkhoven,Shelonitda Rose,Mark A Lee,Tomoko Freshwater,Jos H. Beijnen,Jan H.M. Schellens +12 more
TL;DR: This is the first report providing clinical proof that AZD1775 enhances carboplatin efficacy in TP53-mutated ovarian cancer, and the encouraging antitumor activity observed in patients who were refractory or resistant to first-line therapy warrants further development.
Journal ArticleDOI
High prevalence of SLC6A8 deficiency in X-linked mental retardation
Efraim H. Rosenberg,Lígia S. Almeida,Tjitske Kleefstra,Rose S. deGrauw,Helger G. Yntema,Nadia Bahi,Claude Moraine,Hans-Hilger Ropers,Jean-Pierre Fryns,Ton J. deGrauw,Cornelis Jakobs,Gajja S. Salomons +11 more
TL;DR: The data indicate that the frequency of SLC6A8 mutations in the XLMR population is close to that of CGG expansions in FMR1, the gene responsible for fragile-X syndrome.
Journal ArticleDOI
Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene
Peter E.M. Taschner,Jeroen C. Jansen,Bora E. Baysal,Anne Bosch,Efraim H. Rosenberg,A H J T Bröcker-Vriends,Andel G. L. van der Mey,Gert-Jan B. van Ommen,Cees J. Cornelisse,Peter Devilee +9 more
TL;DR: It is demonstrated that the maternally derived wild‐type SDHD allele is lost in tumors from mutation‐carrying patients, indicating that SDHD functions as a tumor suppressor gene.
Journal ArticleDOI
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
Renata C. Gallagher,Johan L.K. Van Hove,Gunter Scharer,Keith Hyland,Barbara Plecko,Paula J. Waters,Saadet Mercimek-Mahmutoglu,Sylvia Stockler-Ipsiroglu,Gajja S. Salomons,Efraim H. Rosenberg,Eduard A. Struys,Cornelis Jakobs +11 more
TL;DR: Two patients are reported whose CSF showed the marker of folinic acid–responsive seizures, but who responded clinically to pyridoxine, and genetic and biochemical testing was performed on these patients, and seven others, to determine the relation between these two disorders.