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Papers per year
Papers 184
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The LOVD3 platform: efficient genome-wide sharing of genetic variants2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ivo F.A.C. Fokkema, Mark Kroon, J. Hernandez, Daan Asscheman, Ivar Lugtenburg, Jerry Hoogenboom, +1 more
157citations -
Stepwise ABC system for classification of any type of genetic variant2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 2 patents
Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen
102citations -
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +27 more
82citations -
European Reference Networks: challenges and opportunities2021 Journal of Community Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Biruté Tumiene, Holm Graeßner, Irene M.J. Mathijssen, Alberto M. Pereira, Franz S. Schaefer, Maurizio Scarpa, +2 more
80citations -
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders2020 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, +24 more
72citations -
Clinical delineation of SETBP1 haploinsufficiency disorder2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nadieh A. Jansen, Ruth O. Braden, Siddharth Srivastava, Erin F. Otness, Gaëtan Lesca, Massimiliano Rossi, +10 more
67citations -
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability2024 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Reece K. Hart, Ivo F.A.C. Fokkema, Marina T. DiStefano, Ros J. Hastings, Jeroen F. J. Laros, Rachel L. Taylor, +2 more
65citations -
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo, +44 more
60citations -
Saturation genome editing of BAP1 functionally classifies somatic and germline variants2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrew J. Waters, Timothy Brendler-Spaeth, Danielle Smith, Victoria Offord, Hong Kee Tan, Yajie Zhao, +15 more
58citations -
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +93 more
56citations -
Recommendations for reporting results of diagnostic genomic testing2022 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Zandra C. Deans, Joo Wook Ahn, Isabel M. Carreira, Elisabeth M. C. Dequeker, Mick J. Henderson, Luca Lovrečić, +4 more
55citations -
Deep structured learning for variant prioritization in Mendelian diseases2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Matt Christopher Danzi, Maike Franziska Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vívian Pedigone Cintra, +1 more
46citations -
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth A. Stafki, Elicia A. Estrella, Emily S. McGaughy, +17 more
42citations -
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 -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition2022 Molecular Psychiatry article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, +89 more
35citations -
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity2020 Journal of Molecular Diagnostics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, +73 more
35citations -
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, +33 more
32citations -
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 -
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort2022 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Linda A.J. Hendricks, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, +31 more
31citations
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