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Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-51947-w
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- Publication type:
- Article
Identification of genetic variants associated with clinical features of sickle cell disease.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70922-5
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- Publication type:
- Article
Voriconazole metabolism is associated with the number of skin cancers per patient.
- Published in:
- Archives of Dermatological Research, 2024, v. 316, n. 6, p. 1, doi. 10.1007/s00403-024-03135-5
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- Publication type:
- Article
Navigating Complexity in Postural Orthostatic Tachycardia Syndrome.
- Published in:
- Biomedicines, 2024, v. 12, n. 8, p. 1911, doi. 10.3390/biomedicines12081911
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- Publication type:
- Article
Methylome-wide analysis in systemic microbial-induced experimental periodontal disease in mice with different susceptibility.
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- Frontiers in Cellular & Infection Microbiology, 2024, p. 1, doi. 10.3389/fcimb.2024.1369226
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- Publication type:
- Article
Oxidative phosphorylation regulates B cell effector cytokines and promotes inflammation in multiple sclerosis.
- Published in:
- Science Immunology, 2024, v. 9, n. 95, p. 1, doi. 10.1126/sciimmunol.adk0865
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- Publication type:
- Article
Clinical associations with a polygenic predisposition to benign lower white blood cell counts.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47804-5
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- Publication type:
- Article
The Tehran longitudinal family-based cardiometabolic cohort study sheds new light on dyslipidemia transmission patterns.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53504-3
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- Publication type:
- Article
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
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- Publication type:
- Article
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
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- JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 1, p. 149, doi. 10.1093/jnci/djad183
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- Publication type:
- Article
Single-Cell RNA Sequencing Technology Landscape in 2023.
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- Stem Cells, 2024, v. 42, n. 1, p. 1, doi. 10.1093/stmcls/sxad077
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- Publication type:
- Article
Cover Image.
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- Prenatal Diagnosis, 2023, v. 43, n. 13, p. i, doi. 10.1002/pd.6513
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- Publication type:
- Article
Impact of high‐risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 13, p. 1574, doi. 10.1002/pd.6483
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- Publication type:
- Article
Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45649-4
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- Publication type:
- Article
Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
- Published in:
- 2023
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- Publication type:
- Correction Notice
SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1271102
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- Publication type:
- Article
Genomic information of children with malignant brain tumors for the prediction of length of hospitalization.
- Published in:
- Cancer Communications, 2023, v. 43, n. 11, p. 1271, doi. 10.1002/cac2.12475
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- Publication type:
- Article
Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45649-4
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- Publication type:
- Article
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
- Published in:
- Molecular Cancer, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12943-023-01828-5
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- Publication type:
- Article
TOPORS as a novel causal gene for Joubert syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2156, doi. 10.1002/ajmg.a.63303
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- Publication type:
- Article
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.
- Published in:
- 2023
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- Publication type:
- Case Study
Trans-ethnic polygenic risk scores for body mass index.
- Published in:
- Clinical & Translational Discovery, 2023, v. 3, n. 4, p. 1, doi. 10.1002/ctd2.228
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- Publication type:
- Article
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39645-5
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- Publication type:
- Article
Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up.
- Published in:
- Journal of the American Medical Informatics Association, 2023, v. 30, n. 7, p. 1274, doi. 10.1093/jamia/ocad070
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- Publication type:
- Article
Trans‐ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study.
- Published in:
- Clinical & Translational Medicine, 2023, v. 13, n. 6, p. 1, doi. 10.1002/ctm2.1291
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- Publication type:
- Article
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1227, doi. 10.1002/ajmg.a.63130
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- Publication type:
- Article
CLEC16A —An Emerging Master Regulator of Autoimmunity and Neurodegeneration.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8224, doi. 10.3390/ijms24098224
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- Publication type:
- Article
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.
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- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09483-z
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- Publication type:
- Article
Identification of copy number variants contributing to hallux valgus.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1116284
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- Publication type:
- Article
RNA Sequencing in Hypoxia-Adapted T98G Glioblastoma Cells Provides Supportive Evidence for IRE1 as a Potential Therapeutic Target.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 841, doi. 10.3390/genes14040841
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- Publication type:
- Article
Human T follicular helper clones seed the germinal center–resident regulatory pool.
- Published in:
- Science Immunology, 2023, v. 8, n. 82, p. 1, doi. 10.1126/sciimmunol.ade8162
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- Publication type:
- Article
BAG3: Nature's Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 6, p. 937, doi. 10.3390/cells12060937
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- Publication type:
- Article
Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.
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- Journal of the American Heart Association, 2023, v. 12, n. 5, p. 1, doi. 10.1161/JAHA.121.026561
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- Publication type:
- Article
Characterizing variability of electronic health record-driven phenotype definitions.
- Published in:
- Journal of the American Medical Informatics Association, 2023, v. 30, n. 3, p. 427, doi. 10.1093/jamia/ocac235
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- Publication type:
- Article
Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1101488
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- Publication type:
- Article
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27641-0
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- Publication type:
- Article
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 62, doi. 10.3390/genes14010062
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- Publication type:
- Article
Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 142, doi. 10.3390/genes14010142
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- Publication type:
- Article
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual.
- Published in:
- 2023
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- Publication type:
- Case Study
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2137
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- Publication type:
- Article
Clustering of single-cell multi-omics data with a multimodal deep learning method.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-35031-9
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- Publication type:
- Article
Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.
- Published in:
- 2022
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- Publication type:
- journal article
TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3469, doi. 10.1002/ajmg.a.62972
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- Publication type:
- Article
The role of gene-ambient air pollution interactions in paediatric asthma.
- Published in:
- European Respiratory Review, 2022, v. 31, n. 166, p. 1, doi. 10.1183/16000617.0094-2022
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- Publication type:
- Article
Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 1945, doi. 10.3390/jpm12121945
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- Publication type:
- Article
Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium.
- Published in:
- Metabolomics, 2022, v. 18, n. 12, p. 1, doi. 10.1007/s11306-022-01954-z
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- Publication type:
- Article
Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease.
- Published in:
- PLoS ONE, 2022, v. 17, n. 11, p. 1, doi. 10.1371/journal.pone.0277611
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- Publication type:
- Article
Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing.
- Published in:
- Biomarker Research, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40364-022-00431-y
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- Publication type:
- Article
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1910, doi. 10.3390/jpm12111910
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- Publication type:
- Article
COVID-19 in pediatrics: Genetic susceptibility.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.928466
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- Publication type:
- Article