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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein2022 Genetics in Medicine article 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, +44 more
31citations -
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg, +48 more
22citations -
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Luisa Averdunk, Maxim A. Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane A McKee, Tzung‐Chien Hsieh, +25 more
18citations -
Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Amihood Singer, Annemieke M Aartsma-Rus, Julia Grinshpun‐Cohen, Lena Sagi‐Dain
11citations -
Analysis of laboratory reporting practices using a quality assessment of a virtual patient2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Danya F. Vears, Martin Elferink, Marjolein Kriek, Pascal Borry, Koen L.I. van Gassen
10citations -
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
David Cheerie, Marlen C. Lauffer, Logan Newton, Kimberly Amburgey, Danique Beijer, Bushra Haque, +14 more
4citations -
Interventional genomics: Bridging germline diagnosis and therapeutic action2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Petros Giannikopoulos, Marlen C. Lauffer, Christian R. Marshall, Gregory Costain, Zhiyv Niu, David Bick, +5 more
3citations -
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Danya F. Vears, Martin Elferink, Marjolein Kriek, Pascal Borry, Koen L.I. van Gassen
3citations -
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Sarah Fazal, Harriet Dashnow, Maike Franziska Dohrn, Jacquelyn Schatzman Raposo, Laurel Hiatt, Matt Christopher Danzi, +14 more
2citations -
Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants2020 Genetics in Medicine erratum Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Joanna Kennedy, David R. Goudie, Edward M. Blair, Kate Chandler, Shelagh K. Joss, Victoria H. McKay, +49 more
0citations -
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
0citations
12 results