August 31, 2012 article Open access A robust model for read count data in exome sequencing experiments and implications for copy number variant calling Bioinformatics DOI: 10.1093/bioinformatics/bts526 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 4 stored of 784 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 2024 npj Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 10 citations Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings 2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 56 citations Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings 2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 15 citations Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy 2020 Scientific Reports article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access 23 citations 4 results References 0