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Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-023-05708-y
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- Publication type:
- Article
Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Empowering personalized pharmacogenomics with generative AI solutions.
- Published in:
- Journal of the American Medical Informatics Association, 2024, v. 31, n. 6, p. 1356, doi. 10.1093/jamia/ocae039
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- Publication type:
- Article
Validation of Single‐Nucleotide Mosaic Variants Through Droplet Digital PCR.
- Published in:
- Current Protocols, 2024, v. 4, n. 5, p. 1, doi. 10.1002/cpz1.1041
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- Publication type:
- Article
Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59257-3
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- Publication type:
- Article
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01852-4
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- Publication type:
- Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
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- Publication type:
- Article
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 3, p. e244170, doi. 10.1001/jamanetworkopen.2024.4170
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- Publication type:
- Article
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-023-05708-y
- By:
- Publication type:
- Article
A numerical study of the effect of thrombus breakdown on predicted thrombus formation and growth.
- Published in:
- Biomechanics & Modeling in Mechanobiology, 2024, v. 23, n. 1, p. 61, doi. 10.1007/s10237-023-01757-8
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- Publication type:
- Article
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 344, doi. 10.1111/cge.14348
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- Publication type:
- Article
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
- Published in:
- Genetics, 2023, v. 224, n. 4, p. 1, doi. 10.1093/genetics/iyad115
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- Publication type:
- Article
Outcomes After Endovascular Aortic Intervention in Patients With Connective Tissue Disease.
- Published in:
- JAMA Surgery, 2023, v. 158, n. 8, p. 832, doi. 10.1001/jamasurg.2023.2128
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- Publication type:
- Article
Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185
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- Publication type:
- Article
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.
- Published in:
- GigaScience, 2023, v. 12, n. 1, p. 1, doi. 10.1093/gigascience/giac125
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- Publication type:
- Article
Truvari: refined structural variant comparison preserves allelic diversity.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02840-6
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- Publication type:
- Article
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
- Published in:
- Pediatric Blood & Cancer, 2022, v. 69, n. 11, p. 1, doi. 10.1002/pbc.29859
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- Publication type:
- Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01123-w
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- Publication type:
- Article
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3120, doi. 10.1093/hmg/ddac100
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- Publication type:
- Article
Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33093-3
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- Publication type:
- Article
Harmonizing variant classification for return of results in the All of Us Research Program.
- Published in:
- Human Mutation, 2022, v. 43, n. 8, p. 1114, doi. 10.1002/humu.24317
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- Publication type:
- Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
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- Publication type:
- Article
The Haemodynamic and Pathophysiological Mechanisms of Calcific Aortic Valve Disease.
- Published in:
- Biomedicines, 2022, v. 10, n. 6, p. 1317, doi. 10.3390/biomedicines10061317
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- Publication type:
- Article
Best practices for the interpretation and reporting of clinical whole genome sequencing.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
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- Publication type:
- Article
Factors associated with infrainguinal bypass graft patency at 1-year; a retrospective analysis of a single centre experience.
- Published in:
- Perfusion, 2022, v. 37, n. 3, p. 276, doi. 10.1177/0267659121995760
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- Publication type:
- Article
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01031-z
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- Publication type:
- Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
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- Publication type:
- Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
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- Publication type:
- Article
Fully resolved assembly of Cryptosporidium parvum.
- Published in:
- GigaScience, 2022, v. 11, p. 1, doi. 10.1093/gigascience/giac010
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- Publication type:
- Article
Hidden biases in germline structural variant detection.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02558-x
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- Publication type:
- Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
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- Publication type:
- Article
Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young.
- Published in:
- Pediatric Diabetes, 2021, v. 22, n. 7, p. 960, doi. 10.1111/pedi.13257
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- Publication type:
- Article
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2052, doi. 10.1002/acn3.51454
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- Publication type:
- Article
Technical Note: Left Subclavian Artery Scallop Endografts to Facilitate a Proximal Landing Zone and Upper Extremity Access for Branched Endovascular Aortic Repair of Type II Thoracoabdominal Aortic Aneurysms.
- Published in:
- CardioVascular & Interventional Radiology, 2021, v. 44, n. 10, p. 1657, doi. 10.1007/s00270-021-02909-y
- By:
- Publication type:
- Article
Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
- Published in:
- Life Science Alliance, 2021, v. 4, n. 9, p. 1, doi. 10.26508/lsa.202000941
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- Publication type:
- Article
Risk of sudden cardiac death in EXOSC5‐related disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
- By:
- Publication type:
- Article
muCNV: genotyping structural variants for population-level sequencing.
- Published in:
- Bioinformatics, 2021, v. 37, n. 14/15, p. 2055, doi. 10.1093/bioinformatics/btab199
- By:
- Publication type:
- Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
- By:
- Publication type:
- Article
Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2241, doi. 10.1002/ajmg.a.62221
- By:
- Publication type:
- Article
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 577, doi. 10.1002/humu.24190
- By:
- Publication type:
- Article
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100
- By:
- Publication type:
- Article
Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression.
- Published in:
- PLoS Biology, 2020, v. 18, n. 12, p. 1, doi. 10.1371/journal.pbio.3000954
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- Publication type:
- Article
Parliament2: Accurate structural variant calling at scale.
- Published in:
- GigaScience, 2020, v. 9, n. 12, p. 1, doi. 10.1093/gigascience/giaa145
- By:
- Publication type:
- Article
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-19637-5
- By:
- Publication type:
- Article
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
- Published in:
- 2020
- By:
- Publication type:
- letter
Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1439
- By:
- Publication type:
- Article
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
- Published in:
- 2020
- By:
- Publication type:
- journal article