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A Telomere-to-telomere Diploid Reference Genome and Centromere Structure of the Chinese Quartet2025 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Bo Wang, Peng Jia, Stephen J. Bush, Shijie Wan, Pengyu Zhang, Yuanting Zheng, +3 more
4citations -
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access
Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more
1citations -
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy2022 European Journal of Human Genetics article Medicine Cardiomyopathy and Myosin Studies Open access
Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Nasser Al-Hassnan, +17 more
15citations -
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, +67 more
143citations -
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs, F. Kyle Satterstrom, Jack M. Fu, Michael E. Talkowski, +3 more
76citations -
A catalogue of recombination coldspots in interspecific tomato hybrids2024 PLoS Genetics article Agricultural and Biological Sciences Chromosomal and Genetic Variations Open access
Roven Rommel Fuentes, Ronald Nieuwenhuis, Jihed Chouaref, Thamara Hesselink, W. van Dooijeweert, Hetty C. van den Broeck, +10 more
14citations -
High-depth whole genome sequencing of premalignant breast lesions reveals rearrangement hotspots and personalized management opportunities2026 Nature Communications article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Lucia Chmelova, Helen R. Davies, Andrea Degasperi, Giuseppe Rinaldi, Leon J. Wils, Daniella Black, +44 more
0citations -
TONSL suppresses polymerase theta-dependent tandem duplications through chromatin-guided repair2026 Nature Communications article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Robin van Schendel, Ron J Romeijn, Lejon E. M. Kralemann, Paul J. J. Hooykaas, Marcel Tijsterman
0citations -
Analytic pipelines to assess the relationship between immune response and germline genetics in human tumors2022 STAR Protocols article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Rosalyn W. Sayaman, Mohamad Saad, Carolina Heimann, Donglei Hu, Khalid B. Kunji, Jessica P Roelands, +6 more
3citations -
Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome2026 BMC Medical Genomics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Mehmet Buğrahan Düz, Amaia Lasa‐Aranzasti, Ana Cazurro‐Gutiérrez, Anna Hackett, Anna Maria Cueto-González, Arthur Arenas Périco, +22 more
0citations -
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease2025 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Miriam Elbracht, +14 more
3citations -
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 -
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, +36 more
28citations