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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1304520
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- Article
An E280K Missense Variant in KCND3 /Kv4.3—Case Report and Functional Characterization.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10924, doi. 10.3390/ijms241310924
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- Article
Autism spectrum disorder and brain volume link through a set of mTOR‐related genes.
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- Journal of Child Psychology, 2023, v. 64, n. 7, p. 1007, doi. 10.1111/jcpp.13783
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- Article
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01183-6
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- Article
Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: "A great technology creating new dilemmas".
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- Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 387, doi. 10.1002/jgc4.1647
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- Article
SLC7A8 coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicin.
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- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.1042989
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- Article
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
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- 2022
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- journal article
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 682, doi. 10.1002/jimd.12522
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- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
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- Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
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- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
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- Article
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.861236
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- Article
Improving diagnosis and risk stratification across the ejection fraction spectrum: the Maastricht Cardiomyopathy registry.
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- ESC Heart Failure, 2022, v. 9, n. 2, p. 1463, doi. 10.1002/ehf2.13833
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- Article
DTYMK is essential for genome integrity and neuronal survival.
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- Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
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- Article
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076
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- Article
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
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- Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1441, doi. 10.1111/dmcn.14989
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- Article
Liquid biopsy: state of reproductive medicine and beyond.
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- 2021
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- journal article
Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome.
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- Genes, Brain & Behavior, 2021, v. 20, n. 7, p. 1, doi. 10.1111/gbb.12761
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- Article
Ciliary Dyneins and Dynein Related Ciliopathies.
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- Cells (2073-4409), 2021, v. 10, n. 8, p. 1885, doi. 10.3390/cells10081885
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- Article
The combination of carboxy‐terminal propeptide of procollagen type I blood levels and late gadolinium enhancement at cardiac magnetic resonance provides additional prognostic information in idiopathic dilated cardiomyopathy – A multilevel assessment of myocardial fibrosis in dilated cardiomyopathy
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- European Journal of Heart Failure, 2021, v. 23, n. 6, p. 933, doi. 10.1002/ejhf.2201
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- Article
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1039, doi. 10.1002/ajmg.a.62057
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- Article
Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 114, doi. 10.1002/jmd2.12194
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- Article
Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences.
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- European Heart Journal, 2021, v. 42, n. 2, p. 162, doi. 10.1093/eurheartj/ehaa841
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- Article
50 years of Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2005, doi. 10.1002/ajmg.a.61756
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- Article
Maternal risk factors for the VACTERL association: A EUROCAT case–control study.
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- Birth Defects Research, 2020, v. 112, n. 9, p. 688, doi. 10.1002/bdr2.1686
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- Article
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1049
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- Article
Mutations in RPSA and NKX2‐3 link development of the spleen and intestinal vasculature.
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- Human Mutation, 2020, v. 41, n. 1, p. 196, doi. 10.1002/humu.23909
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- Article
Leveraging genomic diversity to promote human and animal health.
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- Communications Biology, 2019, v. 2, n. 1, p. 1, doi. 10.1038/s42003-019-0708-8
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- Article
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12435-8
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- Article
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00611
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- Article
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
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- Epilepsia (Series 4), 2019, v. 60, n. 1, p. 155, doi. 10.1111/epi.14618
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- Article
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
- Published in:
- 2018
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- Publication type:
- journal article
De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
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- Human Mutation, 2018, v. 39, n. 7, p. 1014, doi. 10.1002/humu.23541
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- Article
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 393, doi. 10.1002/mgg3.387
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- Article
Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families.
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- 2017
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- journal article
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
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- Human Mutation, 2017, v. 38, n. 5, p. 594, doi. 10.1002/humu.23176
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- Article
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
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- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0386-9
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- Article
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
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- Human Molecular Genetics, 2016, v. 25, n. 3, p. 546, doi. 10.1093/hmg/ddv495
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- Article
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1652, doi. 10.1038/ejhg.2015.30
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- Article
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
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- Article
Meier-Gorlin syndrome.
- Published in:
- 2015
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- journal article
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
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- Article
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
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- Article
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 317, doi. 10.1038/ejhg.2014.115
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- Article
Genome sequencing identifies major causes of severe intellectual disability.
- Published in:
- Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394
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- Article
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1627, doi. 10.1002/ajmg.a.36501
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- Article
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 844, doi. 10.1038/ejhg.2013.249
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- Publication type:
- Article
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888
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- Article
Clinical Significance of De Novo and Inherited Copy-Number Variation.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1679, doi. 10.1002/humu.22442
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- Article
Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1439, doi. 10.1002/humu.22387
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- Article
Human Intellectual Disability Genes Form Conserved Functional Modules in <i>Drosophila</i>.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003911
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- Article