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Papers 184
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, +46 more
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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
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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, +10 more
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Abstracts from the 54th European Society of Human Genetics (ESHG) Conference2022 European Journal of Human Genetics conference-abstract Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Dariush Ghasemi-Semeskandeh, David B. Emmert, Eva König, Luisa Foco, Martin Gögele, Laura Barin, +5 more
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P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development2024 Genetics in Medicine Open article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Marlen C. Lauffer, Danique Beijer, Matthis Synofzik, Annemieke M Aartsma-Rus, Michael J. Szego, +4 more
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177 ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines2024 Clinical Immunology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Alejandro Nieto-Patlán, William Hankey, Justine Siew, Lijun Wang, Bertrand Boisson, Jes Maimaris, +10 more
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Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
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Diagnostic Yield of Massively Parallel Sequencing in Patients With CKD of Unknown Etiology: The Dutch Nationwide Prospective VARIETY Cohort Study2022 Journal of the American Society of Nephrology conference-abstract Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Ewout Jasper Hoorn, Joris I. Rotmans, Albertien M. van Eerde, +2 more
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31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions2024 Cancer Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Alex Handler Wagner, Reece K. Hart, Johan T. den Dunnen, Elspeth A. Bruford, Ros J. Hastings, Marina T. DiStefano, +2 more
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14O Inherited neuromuscular disorders in India: Outcomes of 1000 probands in the ICGNMD study at AIIMS New Delhi2024 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Y.V. Venugopalan, W. Macken, Nisha Rani, Ashna Reyaz, Jana Vandrovcová, Karthik Bharadwaj Tallapaka, +7 more
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Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiao Chen, Richard J.L.F. Lemmers, Zev N. Kronenberg, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, +7 more
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Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ramy Saad, Clementina Cobolli Gigli, Pleuntje J. van der Sluijs, Jon R. Wilson, Tzung‐Chien Hsieh, Vivienne P. M. McConnell, +20 more
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Increasing clinical utility of prenatal exome sequencing: the potential power of phenotype-driven Artificial Intelligence analysis2026 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Manon Suerink, Mariëtte J.V. Hoffer, Alexander J.M. Dingemans, Ilse Feenstra, Malou Heijligers, Dineke Westra, +15 more
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Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council2026 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Agnes FARRUGIA, Ahmed Bahey, Ahmad Tarawah, Arwa Al Yamani, Carla Abou Selwan, Dania Mohty, +11 more
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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 Hilton, Berta Almoguera, +34 more
0citations
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