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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Windy Berkofsky‐Fessler, Sandrine M. Caputo, +36 more
6citations -
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
0citations -
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin, Bryony A. Thompson, Susan Mary Farrington, Lauren B. Currie, +29 more
7citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +91 more
3citations -
A Comprehensive and Accessible Model for Co-Segregation Analysis in BRCA1, BRCA2 , and PALB2 Variant Classification2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar Rodríguez‐Girondo
1citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations -
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
0citations -
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
0citations -
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +25 more
6citations -
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 -
Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, +15 more
3citations -
Modulating effects of FGF12 variants on Na V 1.2 and Na V 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie T. van der Ven, +5 more
2citations -
Pharmacogenomics of GLP-1 Receptor Agonists: A genome wide analysis of observational data and large randomized controlled trials2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Adem Y. Dawed, Andrea Mari, Timothy James McDonald, Lin Li, Shuaicheng Wang, Mun‐Gwan Hong, +14 more
8citations -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, +4 more
0citations -
Spectral envelopes of facial movements predict intention, cortical representations, and neural prosthetic control2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Face Recognition and Perception Open access
Richard Hakim, Naoshige Uchida, Sandeep Robert Datta, Simon Musall, Bernardo Luis Sabatini
1citations -
Predicting cell-type-specific exon inclusion in the human brain reveals more complex splicing mechanisms in neurons than glia2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Lieke Michielsen, Justine Hsu, Anoushka Joglekar, Natan Belchikov, Marcel J. T. Reinders, Hagen Tilgner, +1 more
4citations -
Federated single-cell QTL meta-analysis reveals novel disease mechanisms2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Dan Kaptijn, Lieke Michielsen, Drew R. Neavin, Aida Ripoll-Cladellas, José Alquicira-Hernández, Maryna Korshevniuk, +51 more
1citations -
A relational architecture of the human genome2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Ingo Kurth, Jeremias Krause, Martin Danner, Florian Kraft, Tanhim Islam, Matthias Begemann, +3 more
0citations