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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 -
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 -
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study2025 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, +66 more
10citations -
Amyloidogenicity assessment of transthyretin gene variants2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access
Nicolai B. Grether, Felix Napravnik, Thomas Imhof, Reinhold Paul LINKE, Jan Hinrich Bräsen, Jessica Schmitz, +6 more
4citations -
Association of bronchial steroid inducible methylation quantitative trait loci with asthma and chronic obstructive pulmonary disease treatment response2022 Clinical and Translational Allergy article Medicine Asthma and respiratory diseases Open access
Elise M. A. Slob, Alen Faiz, Jos van Nijnatten, Susanne J. H. Vijverberg, Cristina Longo, Merve Kutlu, +29 more
1citations -
The Effects of Repetitive Use and Pathological Remodeling on Channelrhodopsin Function in Cardiomyocytes2021 Frontiers in Physiology article Neuroscience Photoreceptor and optogenetics research Open access
Balázs Ördög, Alexander S Teplenin, Tim De Coster, Cindy I. Bart, Sven O. Dekker, Juan Zhang, +3 more
9citations -
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development2024 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd J. W. Tack, Martine Cools, +67 more
42citations