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Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Patricia Llovet, Beatriz Díez‐Gómez, Marı́a J. Caloca, +9 more
20citations -
Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile2023 Breast Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marcel Smid, Marjanka K. Schmidt, Wendy J. C. Prager‐van der Smissen, Kirsten Ruigrok-Ritstier, Maartje A. C. Schreurs, Sten Cornelissen, +8 more
10citations -
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Petros Kountouris, Coralea Stephanou, Carsten Werner Lederer, Joanne Traeger‐Synodinos, Celeste Bento, Cornelis L. Harteveld, +8 more
39citations -
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maria Asif, Arwa Ishaq A. Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Theodoros Georgomanolis, +17 more
2citations -
Age-dependent genetic variants associated with longitudinal changes in brain structure across the lifespan2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Rachel M. Brouwer, Marieke Klein, Katrina L. Grasby, Hugo Gerard Schnack, Neda Jahanshad, Jalmar Teeuw, +94 more
11citations -
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps2022 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Verónica Mericq G, Isabel Huang‐Doran, Dhekra Alnaqeb, Javiera Basaure, Claudia Castiglioni T, Christiaan de Bruin, +7 more
8citations -
Molecular characterization of the craniosynostosis‐associated interleukin‐11 receptor variants p.T306_S308dup and p.E364_V368del2023 FEBS Journal article Biochemistry, Genetics and Molecular Biology Craniofacial Disorders and Treatments Open access
Birte Kespohl, Anna‐Lena Hegele, Stefan Düsterhöft, Hans Bakker, Falk F. R. Buettner, Roland Hartig, +2 more
14citations -
Biallelic Truncating Variants in PACSIN3 Cause Childhood-Onset Myopathy with hyperCKaemia2024 Neuropediatrics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Felix Distelmaier, Abdullah Sezer, Stephan Waldmüller, Annette Seibt, Andrea Gangfuß, Heike Kölbel, +8 more
0citations -
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot2021 Genetics in Medicine erratum Biochemistry, Genetics and Molecular Biology Congenital heart defects research Open access
Doris Škorić‐Milosavljević, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, +48 more
0citations -
Removing Operational Friction Using Process Mining: Challenges Provided by the Internet of Production (IoP)2021 arXiv (Cornell University) preprint Business, Management and Accounting Business Process Modeling and Analysis Open access
Wil M. P. van der Aalst, Tobias Brockhoff, Anahita Farhang Ghahfarokhi, Mahsa Pourbafrani, Merih Seran Uysal, Sebastiaan van Zelst
2citations -
P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL2022 HemaSphere article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Coralea Stephanou, Petros Kountouris, Carsten Werner Lederer, Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, +22 more
0citations -
Population matched (PM) germline allelic variants of immunoglobulin ( IG ) loci: New pmIG database to better understand IG repertoire and selection processes in disease and vaccination2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology vaccines and immunoinformatics approaches Open access
Indu Khatri, Magdalena A. Berkowska, Erik B. van den Akker, Cristina Teodósio, Marcel J. T. Reinders, Jacques J. M. van Dongen
14citations