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POLR3A variants in hereditary spastic paraplegia and ataxia.
- Published in:
- 2018
- By:
- Publication type:
- Letter
A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2908, doi. 10.1002/ajmg.a.63365
- By:
- Publication type:
- Article
Neonatal Progeriod Syndrome Associated with Biallelic Truncating Variants in POLR3A.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3343, doi. 10.1002/ajmg.a.37960
- By:
- Publication type:
- Article
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1585, doi. 10.1002/ajmg.a.37617
- By:
- Publication type:
- Article
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 683, doi. 10.1002/ajmg.a.36927
- By:
- Publication type:
- Article
A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 287, doi. 10.1002/ajmg.a.36273
- By:
- Publication type:
- Article
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
- Published in:
- Nature Genetics, 2015, v. 47, n. 11, p. 1260, doi. 10.1038/ng.3376
- By:
- Publication type:
- Article
Novel heterozygous pathogenic variants in <italic>CHUK</italic> in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0481-9
- By:
- Publication type:
- Article
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 7, p. 1, doi. 10.1371/journal.pgen.1007394
- By:
- Publication type:
- Article
Pangenome graphs improve the analysis of structural variants in rare genetic diseases.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-44980-2
- By:
- Publication type:
- Article
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38782-1
- By:
- Publication type:
- Article
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.
- Published in:
- 2009
- By:
- Publication type:
- journal article
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0045-8
- By:
- Publication type:
- Article
Genetic heterogeneity and enrichment of variants in DNA‐repair genes in ameloblastoma.
- Published in:
- Journal of Oral Pathology & Medicine, 2023, v. 52, n. 3, p. 263, doi. 10.1111/jop.13410
- By:
- Publication type:
- Article
MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation.
- Published in:
- Biomarker Insights, 2022, v. 17, p. 1, doi. 10.1177/11772719221132693
- By:
- Publication type:
- Article
MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation.
- Published in:
- Biomarker Insights, 2022, v. 17, p. 1, doi. 10.1177/11772719221132693
- By:
- Publication type:
- Article
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
- Published in:
- Endocrinology, 2020, v. 161, n. 5, p. 1, doi. 10.1210/endocr/bqz015
- By:
- Publication type:
- Article
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
- Published in:
- BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-32
- By:
- Publication type:
- Article
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
- Published in:
- Clinical Chemistry, 2024, v. 70, n. 4, p. 577, doi. 10.1093/clinchem/hvae025
- By:
- Publication type:
- Article
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 9, p. 1177, doi. 10.1093/clinchem/hvac113
- By:
- Publication type:
- Article
Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
- Published in:
- Science Translational Medicine, 2014, v. 6, n. 265, p. 1, doi. 10.1126/scitranslmed.3010076
- By:
- Publication type:
- Article
Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 136, doi. 10.1111/cge.14149
- By:
- Publication type:
- Article
Diagnostics of Primary immunodeficiencies through next-generation sequencing.
- Published in:
- Frontiers in Immunology, 2016, v. 7, p. 1, doi. 10.3389/fimmu.2016.00466
- By:
- Publication type:
- Article
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units.
- Published in:
- Science Translational Medicine, 2012, v. 4, n. 154, p. 1, doi. 10.1126/scitranslmed.3004041
- By:
- Publication type:
- Article
Characterization and visualization of tandem repeats at genome scale.
- Published in:
- Nature Biotechnology, 2024, v. 42, n. 10, p. 1606, doi. 10.1038/s41587-023-02057-3
- By:
- Publication type:
- Article
ITGB2 (Integrin β2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis.
- Published in:
- 2021
- By:
- Publication type:
- journal article
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1505, doi. 10.1002/humu.23646
- By:
- Publication type:
- Article
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
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- Publication type:
- Article
Alström Syndrome: Mutation Spectrum of ALMS1.
- Published in:
- Human Mutation, 2015, v. 36, n. 7, p. 660, doi. 10.1002/humu.22796
- By:
- Publication type:
- Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 656, doi. 10.1002/humu.22790
- By:
- Publication type:
- Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 301, doi. 10.1002/humu.22743
- By:
- Publication type:
- Article
Can endoscopic follow-up after acute diverticulitis be rationalised?
- Published in:
- Surgical Endoscopy & Other Interventional Techniques, 2023, v. 37, n. 7, p. 5114, doi. 10.1007/s00464-023-09997-6
- By:
- Publication type:
- Article
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a003970
- By:
- Publication type:
- Article
Using dried blood spots for variant analysis for patients with haemophilia.
- Published in:
- Haemophilia, 2019, v. 25, n. 5, p. e339, doi. 10.1111/hae.13824
- By:
- Publication type:
- Article
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52407-1
- By:
- Publication type:
- Article
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
- Published in:
- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0221-8
- By:
- Publication type:
- Article
Neonatal Iron Deficiency Causes Abnormal Phosphate Metabolism by Elevating FGF23 in Normal and ADHR Mice.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 2, p. 361, doi. 10.1002/jbmr.2049
- By:
- Publication type:
- Article
Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing.
- Published in:
- Indian Journal of Pediatrics, 2015, v. 82, n. 5, p. 474, doi. 10.1007/s12098-014-1608-z
- By:
- Publication type:
- Article
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/ instability syndromes.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 31, doi. 10.1186/s12881-015-0177-y
- By:
- Publication type:
- Article