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Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno Martínez, Ada Esteban‐Sánchez, Daniel Romano-Medina, Lobna Ramadane‐Morchadi, +7 more
1citations -
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer2022 Hereditary Cancer in Clinical Practice article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Beverley Speight, Ellen Colvin, E. D. Epurescu, James Drummond, Senno Verhoef, Mariana Buongermino Pereira, +2 more
7citations -
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +8 more
11citations -
Further delineation of phenotypic spectrum of SCN2A ‐related disorder2021 American Journal of Medical Genetics Part A article Medicine Epilepsy research and treatment Open access
Diana Baralle, Christopher Bennett, Tracy Ann Briggs, Emilia K. Bijlsma, Jill Clayton‐Smith, Panayiotis Constantinou, +13 more
10citations -
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
0citations -
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, +11 more
6citations -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
Neuromuscular disease genetics in under-represented populations: increasing data diversity2023 Brain article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Lindsay A. Wilson, William L. Macken, Luke Perry, Christopher J. Record, Katherine R. Schon, Rodrigo Siqueira Soares Frezatti, +72 more
31citations -
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria2021 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marielle M. Alders, Alexander J.M. Dingemans, Kareesma Parbhoo, Bregje W.M. van Bon, Jennifer C. Dempsey, +17 more
12citations -
T-cell clones of uncertain significance are prevalent in cutaneous T-cell lymphomas2025 Blood conference-abstract Medicine Cutaneous lymphoproliferative disorders research Open access
Safa Najidh, Joseph C. Cleveland, Armando N. Bastidas Torres, Alexa C. Kwang, George E. Durán, Yonatan A. Cooper, +4 more
1citations