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Complex structural variation and nonsense variant in trans cause VPS50-related disorder2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
5citations -
In vivo structural neuroimaging evaluation of the hypothalamus in Prader-Willi Syndrome sub-genotypes2026 Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Marten J. Peters, Esther M. Speksnijder, I. Caroline van Nieuwpoort, Alberto M. Pereira, Madeleine L. Drent, Dirk Jan Stenvers, +1 more
0citations -
Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome2026 BMC Medical Genomics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Mehmet Buğrahan Düz, Amaia Lasa‐Aranzasti, Ana Cazurro‐Gutiérrez, Anna Hackett, Anna Maria Cueto-González, Arthur Arenas Périco, +22 more
0citations -
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Soha Sewani, Mahshid Sababi Azamian, Bryce A. Mendelsohn, Frédéric Tran Mau‐Them, Manon Réda, Sophie Nambot, +17 more
16citations -
Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family2021 JID Innovations article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Youssef A. Elhaji, Tessa M. A. van Henten, Claudia A. L. Ruivenkamp, Mathew Nightingale, Gijs W.E. Santen, Lydia E. Vos, +1 more
3citations -
Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads2026 Genome Medicine article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Robin van Schendel, Anastasia Emmanouilidou, Rebecka Östlund, Ignas Bunikis, Marcel Tijsterman, +2 more
0citations -
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rabea Wagener, Julia Taeubner, Carolin Walter, Layal Yasin, Deya Alzoubi, Christoph Bartenhagen, +9 more
62citations -
Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis2025 Blood Advances article Biochemistry, Genetics and Molecular Biology Blood disorders and treatments Open access
Thijs van Bergen, Dennis A. Bosch, Christine Bellanné‐Chantelot, Roger Mulet‐Lazaro, Jacob R. Bledsoe, Lanpeng Chen, +21 more
4citations -
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access
Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more
1citations -
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Molly Godfrey, Michael A. Levy, Christopher Campbell, Leigh A. M. Demain, Sarah Elizabeth Jenkinson, Sarah Hilton, +35 more
0citations -
Basement highs and their influence on basin geometry and sediment distribution in the Chacopampean Plain, Argentina2026 Global and Planetary Change article Earth and Planetary Sciences Geological and Tectonic Studies in Latin America Open access
Valentina Cortassa, Stefan Back, Robert Ondrak, Cecilia del Papa, Eduardo A. Rossello, Manfred R. Strecker
1citations -
Delineation of depth to basement and subsurface structures beneath the Gerad Graben, western Sirt Basin, Libya, from gravity and aeromagnetic data2025 Energy Geoscience article Earth and Planetary Sciences Geological and Geophysical Studies Open access
Abdelhakim Eshanibli, Nur Azwin Ismail, Hussin B. Ghanush, Abdullatif Dugdug, Abel Uyimwen Osagie, Nabil Khalifa, +2 more
1citations