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ATR-16 syndrome: mechanisms linking monosomy to phenotype2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Christian Babbs, Jill M. Brown, Sharon W. Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, +7 more
10citations -
Prognostic Factors Five Years After Enucleation for Uveal Melanoma2020 Investigative Ophthalmology & Visual Science article Medicine Ocular Oncology and Treatments Open access
Mehmet Doğrusöz, Niels J. Brouwer, Stefan J. R. de Geus, Long V. Ly, Stefan Böhringer, Sjoerd G. van Duinen, +7 more
76citations -
The impact of monosomies, trisomies and segmental aneuploidies on chromosomal stability2022 PLoS ONE article Biochemistry, Genetics and Molecular Biology Microtubule and mitosis dynamics Open access
Dorine C. Hintzen, Mar Soto, Michaël Schubert, Björn Bakker, Diana C.J. Spierings, Károly Szuhai, +5 more
30citations -
Monosomies, trisomies and segmental aneuploidies differentially affect chromosomal stability2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Microtubule and mitosis dynamics Open access
Dorine C. Hintzen, Mar Soto, Michaël Schubert, Björn Bakker, Diana C.J. Spierings, Károly Szuhai, +4 more
5citations -
Targeting the YAP/TAZ Pathway in Uveal and Conjunctival Melanoma With Verteporfin2021 Investigative Ophthalmology & Visual Science article Medicine Ocular Oncology and Treatments Open access
Niels J. Brouwer, Eleni K. Konstantinou, Evangelos S. Gragoudas, Marina Marinkovic, Gregorius P. M. Luyten, Ivana K. Kim, +2 more
37citations -
In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations
Francesca Piaggio, Michela Croce, Francesco Reggiani, Paola Monti, Cinzia Bernardi, Marianna Ambrosio, +16 more
29citations -
Microphthalmia-Associated Transcription Factor: A Differentiation Marker in Uveal Melanoma2023 International Journal of Molecular Sciences article Medicine Ocular Oncology and Treatments Open access
Maria Chiara Gelmi, Robert M. Verdijk, Laurien E. Houtzagers, Pieter A. van der Velden, Wilma G. M. Kroes, Gregorius P. M. Luyten, +2 more
10citations -
No QTc Prolongation in Girls and Women with Turner Syndrome2020 The Journal of Clinical Endocrinology & Metabolism article Medicine Cardiac electrophysiology and arrhythmias Open access
Iris D. Noordman, Anthonie L. Duijnhouwer, Misty Coert, Marlies J. E. Kempers, Henri J L M Timmers, Zina Fejzic, +2 more
13citations -
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy2022 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katja Eggermann, Robert Meyer, Matthias Begemann, Daniela Dey, E. Bültmann, Ingo Kurth, +2 more
4citations
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