Papers matching “disease-associated variants” 47
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Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Zelia Corradi, Rob W.J. Collin, Jim Swildens, Frans P.M. Cremers
10citations -
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 -
Molecular insights into disease-associated glutamate transporter (EAAT1 / SLC1A3) variants using in silico and in vitro approaches2023 Frontiers in Molecular Biosciences article Biochemistry, Genetics and Molecular Biology Amino Acid Enzymes and Metabolism Open access
Marina Gorostiola González, Hubert J. Sijben, Laura Dall’ Acqua, Rongfang Liu, Adriaan P. IJzerman, Laura H. Heitman, +1 more
6citations -
Deciphering DST -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy2025 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T. Achleitner, +46 more
3citations -
Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA42022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Davide Piccolo, Sang‐Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, +5 more
1citations -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies2024 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Isa van der Veen, Michalis Georgiou, Mary J. van Schooneveld, Jacoline B. ten Brink, Ralph J. Florijn, +5 more
6citations -
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C2023 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Davide Piccolo, Sang‐Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, +5 more
41citations -
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, +15 more
15citations -
From Atoms to Neuronal Spikes: A Multiscale Simulation Framework2026 Journal of Chemical Theory and Computation article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Ana Damjanovic, Vincenzo Carnevale, Thorsten Hater, Nauman Sultan, Giulia Rossetti, Sandra Diaz-Pier, +1 more
0citations -
Similar burden of pathogenic coding variants in exceptionally long‐lived individuals and individuals without exceptional longevity2020 Aging Cell article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Danielle Gutman, Gabriel Arie Lidzbarsky, Sofiya Milman, Tina Gao, Patrick Sin‐Chan, Claudia G. Gonzaga-Jauregui, +4 more
13citations -
STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells2022 Cell Reports Methods article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 1 patent
Albert Blanch-Asensio, Catarina Grandela, Karina O. Brandão, Tessa de Korte, Hailiang Mei, Yavuz Ariyürek, +6 more
50citations -
STRAIGHT-IN: A platform for high-throughput targeting of large DNA payloads into human pluripotent stem cells2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 2 patents
Catarina Grandela, Albert Blanch-Asensio, Karina O. Brandão, Tessa de Korte, Loukia Yiangou, Mervyn P.H. Mol, +3 more
1citations -
A Landscape Analysis of Human SUMOylation2026 Molecular & Cellular Proteomics article Biochemistry, Genetics and Molecular Biology Ubiquitin and proteasome pathways Open access
Shireen Al-Momani, Kerry A. Ramsbottom, Andrew Collins, Ellen Boswell, Ivo Alexander Hendriks, Michael Lund Nielsen, +11 more
1citations -
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Patricia Llovet, Beatriz Díez‐Gómez, Marı́a J. Caloca, +9 more
20citations -
Comparison of the ABC and ACMG systems for variant classification2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansović, +41 more
15citations -
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 12020 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun M. Leo, Ajoy Vincent, Fadi Nasser, +30 more
33citations -
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy2022 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katja Eggermann, Robert Meyer, Matthias Begemann, Daniela Dey, E. Bültmann, Ingo Kurth, +2 more
4citations -
OP39 The effect of phenotype and genotype on the plasma proteome in patients with Inflammatory Bowel Disease2021 Journal of Crohn s and Colitis conference-abstract Biochemistry, Genetics and Molecular Biology Inflammatory Bowel Disease
Arno R. Bourgonje, S Hu, Lieke M. Spekhorst, Dasha V. Zhernakova, Arnau Vich Vila, Lisette A. van Berkel, +12 more
2citations -
The Effect of Phenotype and Genotype on the Plasma Proteome in Patients with Inflammatory Bowel Disease2021 Journal of Crohn s and Colitis article Biochemistry, Genetics and Molecular Biology Inflammatory Bowel Disease Open access
Arno R. Bourgonje, Shixian Hu, Lieke M. Spekhorst, Daria V. Zhernakova, Arnau Vich Vila, Yanni Li, +14 more
40citations -
Patient-Derived Inner Ear Organoids as a Disease Modeling and Therapy Validation Platform For Hereditary Inner Ear Disorders2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Hearing, Cochlea, Tinnitus, Genetics Open access
Esther Fousert, Winnie M. C. van den Boogaard, Amy W. A. Lucassen, Shantha D. Udayappan, Jaap Oostrik, Peter Paul G. van Benthem, +5 more
0citations -
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