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The Role of the European Society of Human Genetics in Delivering Genomic Education.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.693952
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- Publication type:
- Article
The Role of the U5 snRNP in Genetic Disorders and Cancer.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.636620
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- Publication type:
- Article
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-84
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- Publication type:
- Article
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
- Published in:
- 2013
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- Publication type:
- journal article
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
- Published in:
- Journal of Pathology, 2014, v. 234, n. 4, p. 436, doi. 10.1002/path.4427
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- Publication type:
- Article
Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 176, n. 1, p. 141, doi. 10.1007/s10549-019-05210-2
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- Publication type:
- Article
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 805, doi. 10.1007/s00439-021-02319-7
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- Publication type:
- Article
Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.65453
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- Publication type:
- Article
Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling.
- Published in:
- Physiological Reports, 2022, v. 10, n. 8, p. 1, doi. 10.14814/phy2.15265
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- Publication type:
- Article
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 199, doi. 10.1038/jhg.2014.122
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- Publication type:
- Article
Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy.
- Published in:
- Cardiogenetics, 2021, v. 11, n. 2, p. 73, doi. 10.3390/cardiogenetics11020009
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- Publication type:
- Article
Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy.
- Published in:
- Cardiogenetics, 2021, v. 11, n. 1, p. 1, doi. 10.3390/cardiogenetics11010001
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- Publication type:
- Article
Assessment of disease-associated missense variants in RYR2 on transcript splicing.
- Published in:
- Cardiogenetics, 2020, v. 10, n. 1, p. 11, doi. 10.4081/cardiogenetics.2020.8637
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- Publication type:
- Article
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 730, doi. 10.1002/ajmg.a.63067
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- Publication type:
- Article
22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 404, doi. 10.1002/ajmg.a.61032
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- Publication type:
- Article
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1051, doi. 10.1002/ajmg.a.38140
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- Publication type:
- Article
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
- Published in:
- 2011
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- Publication type:
- Other
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
- Published in:
- Nature Genetics, 2015, v. 47, n. 9, p. 979, doi. 10.1038/ng.3359
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- Publication type:
- Article
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 295, doi. 10.1038/ng.2552
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- Publication type:
- Article
Foramen Ovale Closure Is a Process of Endothelial-to-Mesenchymal Transition Leading to Fibrosis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107175
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- Publication type:
- Article
Advantages of a Subcutaneous Implantable Cardioverter-Defibrillator in LAMP2 Hypertrophic Cardiomyopathy.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2013, v. 24, n. 9, p. 1051, doi. 10.1111/jce.12142
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- Publication type:
- Article
Public preferences for pharmacogenetic testing in the NHS: Embedding a discrete choice experiment within service design to better meet user needs.
- Published in:
- British Journal of Clinical Pharmacology, 2024, v. 90, n. 7, p. 1699, doi. 10.1111/bcp.16058
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- Publication type:
- Article
Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
- Published in:
- Cancers, 2021, v. 13, n. 16, p. 4154, doi. 10.3390/cancers13164154
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- Publication type:
- Article
Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.
- Published in:
- Cancers, 2020, v. 12, n. 2, p. 378, doi. 10.3390/cancers12020378
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- Publication type:
- Article
Epidermal Growth Factor Receptor in Pancreatic Cancer.
- Published in:
- Cancers, 2011, v. 3, n. 2, p. 1513, doi. 10.3390/cancers3021513
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- Publication type:
- Article
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 708, doi. 10.1038/ejhg.2014.167
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- Publication type:
- Article
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 212, doi. 10.1038/ejhg.2012.124
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- Publication type:
- Article
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 18, doi. 10.1038/ejhg.2010.136
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- Publication type:
- Article
Letters to the Editor.
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- Journal of Paediatrics & Child Health, 2023, v. 59, n. 3, p. 600, doi. 10.1111/jpc.16376
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- Publication type:
- Article
High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
- Published in:
- 2012
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- Publication type:
- Letter
A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation.
- Published in:
- Human Reproduction, 2014, v. 29, n. 12, p. 2832, doi. 10.1093/humrep/deu264
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- Publication type:
- Article
Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.91828
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- Publication type:
- Article
Quantifying the Impact of Capacity Constraints in Economic Evaluations: An Application in Precision Medicine.
- Published in:
- Medical Decision Making, 2022, v. 42, n. 4, p. 538, doi. 10.1177/0272989X211053792
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- Publication type:
- Article
The importance of ethnicity: Are breast cancer polygenic risk scores ready for women who are not of White European origin?
- Published in:
- International Journal of Cancer, 2022, v. 150, n. 1, p. 73, doi. 10.1002/ijc.33782
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- Publication type:
- Article
Molecular Genetics and Personalized Medicine.
- Published in:
- 2013
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- Publication type:
- journal article
Pharmacogenetics and pharmacogenomics: a clinical reality.
- Published in:
- Annals of Clinical Biochemistry, 2011, v. 48, n. 5, p. 410, doi. 10.1258/acb.2011.011084
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- Publication type:
- Article
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
- Published in:
- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0233582
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- Publication type:
- Article
Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD.
- Published in:
- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0228101
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- Publication type:
- Article
Refusal of viral testing during the SARS-CoV-2 pandemic.
- Published in:
- Clinical Medicine, 2020, v. 20, n. 5, p. e163, doi. 10.7861/clinmed.2020-0388
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- Publication type:
- Article
Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.
- Published in:
- PLoS Medicine, 2022, v. 19, n. 5, p. 1, doi. 10.1371/journal.pmed.1003981
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- Publication type:
- Article
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 584, doi. 10.1111/cge.14514
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- Publication type:
- Article
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 255, doi. 10.1111/cge.14082
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- Publication type:
- Article
Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 1, p. 48, doi. 10.1111/cge.14068
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- Publication type:
- Article
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 515, doi. 10.1111/cge.13631
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- Publication type:
- Article
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.
- Published in:
- 2021
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- Publication type:
- journal article
Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT‐RNR1 Genotype.
- Published in:
- Clinical Pharmacology & Therapeutics, 2022, v. 111, n. 2, p. 366, doi. 10.1002/cpt.2309
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- Publication type:
- Article
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.74777
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- Publication type:
- Article
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.74777
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- Publication type:
- Article
MT-RNR1 Genotype Should Not Affect Childhood Vaccination—Unintended Consequences of Guidelines.
- Published in:
- 2023
- By:
- Publication type:
- Opinion
Options for Detecting Risk of Aminoglycoside-Induced Ototoxicity in Neonates—Reply.
- Published in:
- JAMA Pediatrics, 2022, v. 176, n. 8, p. 827, doi. 10.1001/jamapediatrics.2022.2062
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- Publication type:
- Article