Found: 43
Select item for more details and to access through your institution.
The role of copy number variants in the genetic architecture of common familial epilepsies.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 3, p. 792, doi. 10.1111/epi.17860
- By:
- Publication type:
- Article
Long-Read DNA and RNA Sequencing to Streamline Clinical Genetic Testing and Reduce Barriers to Comprehensive Genetic Testing.
- Published in:
- Journal of Applied Laboratory Medicine, 2024, v. 9, n. 1, p. 138, doi. 10.1093/jalm/jfad107
- By:
- Publication type:
- Article
Advances in the discovery and analyses of human tandem repeats.
- Published in:
- Emerging Topics in Life Sciences, 2023, v. 7, n. 3, p. 361, doi. 10.1042/ETLS20230074
- By:
- Publication type:
- Article
Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2825, doi. 10.1002/ajmg.a.63366
- By:
- Publication type:
- Article
Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus).
- Published in:
- G3: Genes | Genomes | Genetics, 2023, v. 13, n. 10, p. 1, doi. 10.1093/g3journal/jkad177
- By:
- Publication type:
- Article
Applications of long-read sequencing to Mendelian genetics.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01194-3
- By:
- Publication type:
- Article
Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic.
- Published in:
- Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04243-y
- By:
- Publication type:
- Article
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 1046, doi. 10.1002/acn3.51786
- By:
- Publication type:
- Article
Correction to: Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Heterozygous inversion breakpoints suppress meiotic crossovers by altering recombination repair outcomes.
- Published in:
- PLoS Genetics, 2023, v. 18, n. 4, p. 1, doi. 10.1371/journal.pgen.1010702
- By:
- Publication type:
- Article
Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing.
- Published in:
- Maternal Health, Neonatology & Perinatology, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40748-023-00148-2
- By:
- Publication type:
- Article
Off-target piRNA gene silencing in Drosophila melanogaster rescued by a transposable element insertion.
- Published in:
- PLoS Genetics, 2023, v. 18, n. 2, p. 1, doi. 10.1371/journal.pgen.1010598
- By:
- Publication type:
- Article
Paramutation-like Epigenetic Conversion by piRNA at the Telomere of Drosophila virilis.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 10, p. N.PAG, doi. 10.3390/biology11101480
- By:
- Publication type:
- Article
Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1711, doi. 10.1002/jbmr.4647
- By:
- Publication type:
- Article
Curated variation benchmarks for challenging medically relevant autosomal genes.
- Published in:
- Nature Biotechnology, 2022, v. 40, n. 5, p. 672, doi. 10.1038/s41587-021-01158-1
- By:
- Publication type:
- Article
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
- Published in:
- Molecular Biology & Evolution, 2021, v. 38, n. 12, p. 5576, doi. 10.1093/molbev/msab244
- By:
- Publication type:
- Article
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 10, p. 1236, doi. 10.1001/jamaneurol.2021.2598
- By:
- Publication type:
- Article
Highly contiguous assemblies of 101 drosophilid genomes.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.66405
- By:
- Publication type:
- Article
Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2136, doi. 10.1002/ajmg.a.62194
- By:
- Publication type:
- Article
A pathway for error-free non-homologous end joining of resected meiotic double-strand breaks.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 2, p. 879, doi. 10.1093/nar/gkaa1205
- By:
- Publication type:
- Article
The role of gene dosage in budding yeast centrosome scaling and spontaneous diploidization.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1008911
- By:
- Publication type:
- Article
Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes.
- Published in:
- G3: Genes | Genomes | Genetics, 2020, v. 10, n. 11, p. 4271, doi. 10.1534/g3.120.401559
- By:
- Publication type:
- Article
The Interchromosomal Effect: Different Meanings for Different Organisms.
- Published in:
- Genetics, 2020, v. 216, n. 3, p. 621, doi. 10.1534/genetics.120.303656
- By:
- Publication type:
- Article
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1576, doi. 10.1002/ajmg.a.61615
- By:
- Publication type:
- Article
Catel–Manzke syndrome without Manzke dysostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 437, doi. 10.1002/ajmg.a.61436
- By:
- Publication type:
- Article
A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate‐pair sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 543, doi. 10.1002/ajmg.a.61442
- By:
- Publication type:
- Article
Synaptonemal Complex-Deficient Drosophila melanogaster Females Exhibit Rare DSB Repair Events, Recurrent Copy-Number Variation, and an Increased Rate of de Novo Transposable Element Movement.
- Published in:
- G3: Genes | Genomes | Genetics, 2020, v. 10, n. 2, p. 525, doi. 10.1534/g3.119.400853
- By:
- Publication type:
- Article
Long live the king: chromosome-level assembly of the lion (Panthera leo) using linked-read, Hi-C, and long-read data.
- Published in:
- BMC Biology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12915-019-0734-5
- By:
- Publication type:
- Article
The joy of balancers.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 11, p. 1, doi. 10.1371/journal.pgen.1008421
- By:
- Publication type:
- Article
Origin, Composition, and Structure of the Supernumerary B Chromosome of Drosophila melanogaster.
- Published in:
- Genetics, 2018, v. 210, n. 4, p. 1197, doi. 10.1534/genetics.118.301478
- By:
- Publication type:
- Article
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2435, doi. 10.1002/ajmg.a.40470
- By:
- Publication type:
- Article
Highly Contiguous Genome Assemblies of 15 Drosophila Species Generated Using Nanopore Sequencing.
- Published in:
- G3: Genes | Genomes | Genetics, 2018, v. 8, n. 10, p. 3131, doi. 10.1534/g3.118.200160
- By:
- Publication type:
- Article
Rapid Low-Cost Assembly of the Drosophila melanogaster Reference Genome Using Low-Coverage, Long-Read Sequencing.
- Published in:
- G3: Genes | Genomes | Genetics, 2018, v. 8, n. 10, p. 3143, doi. 10.1534/g3.118.200162
- By:
- Publication type:
- Article
The Molecular and Genetic Characterization of Second Chromosome Balancers in Drosophila melanogaster.
- Published in:
- G3: Genes | Genomes | Genetics, 2018, v. 8, n. 4, p. 1161, doi. 10.1534/g3.118.200021
- By:
- Publication type:
- Article
Female Meiosis: Synapsis, Recombination, and Segregation in Drosophila melanogaster.
- Published in:
- Genetics, 2018, v. 208, n. 3, p. 875, doi. 10.1534/genetics.117.300081
- By:
- Publication type:
- Article
Alfred Sturtevant Walks into a Bar: Gene Dosage, Gene Position, and Unequal Crossing Over in Drosophila.
- Published in:
- Genetics, 2016, v. 204, n. 3, p. 833, doi. 10.1534/genetics.116.195891
- By:
- Publication type:
- Article
Third Chromosome Balancer Inversions Disrupt Protein-Coding Genes and Influence Distal Recombination Events in Drosophila melanogaster.
- Published in:
- G3: Genes | Genomes | Genetics, 2016, v. 6, n. 7, p. 1959, doi. 10.1534/g3.116.029330
- By:
- Publication type:
- Article
Whole-Genome Analysis of Individual Meiotic Events in Drosophila melanogaster Reveals That Noncrossover Gene Conversions Are Insensitive to Interference and the Centromere Effect.
- Published in:
- Genetics, 2016, v. 203, n. 1, p. 159, doi. 10.1534/genetics.115.186486
- By:
- Publication type:
- Article
Phosphorylation of the Synaptonemal Complex Protein Zip1 Regulates the Crossover/Noncrossover Decision during Yeast Meiosis.
- Published in:
- PLoS Biology, 2015, v. 13, n. 12, p. 1, doi. 10.1371/journal.pbio.1002329
- By:
- Publication type:
- Article
Dynamics of Wolbachia pipientis Gene Expression Across the Drosophila melanogaster Life Cycle.
- Published in:
- G3: Genes | Genomes | Genetics, 2015, v. 5, n. 12, p. 2843, doi. 10.1534/g3.115.021931
- By:
- Publication type:
- Article
Tetrad analysis in the mouse.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1045, doi. 10.1038/ng.3104
- By:
- Publication type:
- Article
Corolla Is a Novel Protein That Contributes to the Architecture of the Synaptonemal Complex of Drosophila.
- Published in:
- Genetics, 2014, v. 198, n. 1, p. 219, doi. 10.1534/genetics.114.165290
- By:
- Publication type:
- Article
Discovery of Supernumerary B Chromosomes in Drosophila melanogaster.
- Published in:
- Genetics, 2014, v. 196, n. 4, p. 1007, doi. 10.1534/genetics.113.160556
- By:
- Publication type:
- Article