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A framework for the clinical implementation of optical genome mapping in hematologic malignancies.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 4, p. 642, doi. 10.1002/ajh.27175
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- Publication type:
- Article
Association Between Clonal Hematopoiesis Driver Mutations, Immune Cell Function, and the Vasculometabolic Complications of Obesity.
- Published in:
- Journal of the American Heart Association, 2024, v. 13, n. 2, p. 1, doi. 10.1161/JAHA.123.031665
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- Publication type:
- Article
Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories.
- Published in:
- 2023
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- Publication type:
- Editorial
Clonal Hematopoiesis of Indeterminate Potential From a Heart Failure Specialist's Point of View.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 16, p. 1, doi. 10.1161/JAHA.123.030603
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- Publication type:
- Article
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.
- Published in:
- PLoS Genetics, 2023, v. 19, n. 8, p. 1, doi. 10.1371/journal.pgen.1010889
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- Publication type:
- Article
Clonal Hematopoiesis of Indeterminate Potential From a Heart Failure Specialist's Point of View.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 15, p. 1, doi. 10.1161/JAHA.123.030603
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- Publication type:
- Article
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
- Published in:
- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09391-5
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- Publication type:
- Article
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01183-6
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- Publication type:
- Article
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
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- Publication type:
- Article
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2109
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- Publication type:
- Article
Circulating interleukin-37 declines with aging in healthy humans: relations to healthspan indicators and IL37 gene SNPs.
- Published in:
- GeroScience, 2023, v. 45, n. 1, p. 65, doi. 10.1007/s11357-022-00587-3
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- Publication type:
- Article
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
- Published in:
- 2023
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- Publication type:
- Case Study
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2234, doi. 10.1002/humu.24489
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- Publication type:
- Article
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.78469
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- Publication type:
- Article
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01100-3
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- Publication type:
- Article
Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL).
- Published in:
- Cancers, 2022, v. 14, n. 14, p. N.PAG, doi. 10.3390/cancers14143376
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- Publication type:
- Article
Clonal Hematopoiesis Is Associated With Low CD4 Nadir and Increased Residual HIV Transcriptional Activity in Virally Suppressed Individuals With HIV.
- Published in:
- Journal of Infectious Diseases, 2022, v. 225, n. 8, p. 1339, doi. 10.1093/infdis/jiab419
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- Publication type:
- Article
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 951, doi. 10.1007/s00439-021-02334-8
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- Publication type:
- Article
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076
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- Publication type:
- Article
Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.
- Published in:
- Clinical Reviews in Allergy & Immunology, 2021, v. 61, n. 2, p. 212, doi. 10.1007/s12016-021-08838-5
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- Publication type:
- Article
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
- Published in:
- Journal of Pathology, 2021, v. 255, n. 2, p. 202, doi. 10.1002/path.5755
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- Publication type:
- Article
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
- Published in:
- Human Mutation, 2021, v. 42, n. 8, p. 1066, doi. 10.1002/humu.24219
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- Publication type:
- Article
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.719115
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- Publication type:
- Article
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00907-w
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- Publication type:
- Article
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23327-1
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- Publication type:
- Article
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1382, doi. 10.1002/jimd.12255
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- Publication type:
- Article
Novel GANAB variants associated with polycystic liver disease.
- Published in:
- 2020
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- Publication type:
- journal article
Primary immunodeficiencies in cytosolic pattern‐recognition receptor pathways: Toward host‐directed treatment strategies.
- Published in:
- Immunological Reviews, 2020, v. 297, n. 1, p. 247, doi. 10.1111/imr.12898
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- Publication type:
- Article
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis.
- Published in:
- Annals of Neurology, 2020, v. 87, n. 2, p. 184, doi. 10.1002/ana.25658
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- Publication type:
- Article
Arterial Wall Inflammation and Increased Hematopoietic Activity in Patients With Primary Aldosteronism.
- Published in:
- 2019
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- Publication type:
- journal article
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01332
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- Publication type:
- Article
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis.
- Published in:
- 2019
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- Publication type:
- journal article
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 959, doi. 10.3390/genes10120959
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- Publication type:
- Article
Insufficient evidence for a role of SERPINF1 in otosclerosis.
- Published in:
- Molecular Genetics & Genomics, 2019, v. 294, n. 4, p. 1001, doi. 10.1007/s00438-019-01558-8
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- Publication type:
- Article
NGS: Gestern, heute und morgen.
- Published in:
- 2019
- By:
- Publication type:
- Editorial
Long-Read Sequencing Emerging in Medical Genetics.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00426
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- Publication type:
- Article
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1592, doi. 10.1002/humu.23312
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- Publication type:
- Article
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0178169
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- Publication type:
- Article
Quantification of differential gene expression by multiplexed targeted resequencing of cDNA.
- Published in:
- Nature Communications, 2017, v. 8, n. 5, p. 15190, doi. 10.1038/ncomms15190
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- Publication type:
- Article
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
- Published in:
- Scientific Reports, 2017, p. 46105, doi. 10.1038/srep46105
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- Publication type:
- Article
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
- Published in:
- Human Mutation, 2017, v. 38, n. 2, p. 226, doi. 10.1002/humu.23137
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- Publication type:
- Article
New insights into the generation and role of de novo mutations in health and disease.
- Published in:
- Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1110-1
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- Publication type:
- Article
RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.
- Published in:
- Bioinformatics, 2016, v. 32, n. 19, p. 3018, doi. 10.1093/bioinformatics/btw359
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- Publication type:
- Article
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11600, doi. 10.1038/ncomms11600
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- Publication type:
- Article
Progressive multifocal leukoencephalopathy in an immunocompetent patient.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 3, p. 226, doi. 10.1002/acn3.279
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- Publication type:
- Article
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 5, p. 892, doi. 10.1093/hmg/ddv618
- By:
- Publication type:
- Article
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1652, doi. 10.1038/ejhg.2015.30
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- Publication type:
- Article
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
- Published in:
- Scientific Reports, 2015, p. 14060, doi. 10.1038/srep14060
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- Publication type:
- Article