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A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
- Published in:
- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0141-y
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- Publication type:
- Article
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0111-9
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- Publication type:
- Article
AMD and the alternative complement pathway: genetics and functional implications.
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- Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0079-x
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- Publication type:
- Article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
- Published in:
- Brain: A Journal of Neurology, 2017, v. 140, n. 5, p. 1267, doi. 10.1093/brain/awx040
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- Publication type:
- Article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
- Published in:
- 2017
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- Publication type:
- journal article
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
- Published in:
- 2014
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- Publication type:
- journal article
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 5, p. 2059, doi. 10.1172/JCI71898
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- Publication type:
- Article
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
- Published in:
- Journal of Clinical Investigation, 2009, v. 119, n. 3, p. 428, doi. 10.1172/JCI37041
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- Publication type:
- Article
Polygenic risk score portability for common diseases across genetically diverse populations.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00664-y
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- Publication type:
- Article
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
- Published in:
- Human Genetics, 2021, v. 140, n. 12, p. 1733, doi. 10.1007/s00439-021-02380-2
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- Publication type:
- Article
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions.
- Published in:
- Journal of Participatory Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.2196/jopm.8958
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- Publication type:
- Article
Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects.
- Published in:
- Science Signaling, 2017, v. 10, n. 500, p. 1, doi. 10.1126/scisignal.aal4055
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- Publication type:
- Article
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1366, doi. 10.1038/ng.2741
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- Publication type:
- Article
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103
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- Publication type:
- Article
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1232, doi. 10.1038/ng.976
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- Publication type:
- Article
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 776, doi. 10.1038/ng.891
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- Publication type:
- Article
Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- 2008
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- Publication type:
- Correction Notice
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2008, v. 40, n. 4, p. 443, doi. 10.1038/ng.97
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- Publication type:
- Article
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.
- Published in:
- Nature Genetics, 2007, v. 39, n. 11, p. 1350, doi. 10.1038/ng.2007.12
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- Publication type:
- Article
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia.
- Published in:
- 2006
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- Publication type:
- Letter
Ciliary proteins and exencephaly.
- Published in:
- Nature Genetics, 2006, v. 38, n. 2, p. 135, doi. 10.1038/ng0206-135
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- Publication type:
- Article
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 275, doi. 10.1038/ng1511
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- Publication type:
- Article
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 994, doi. 10.1038/ng1418
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- Publication type:
- Article
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 989, doi. 10.1038/ng1414
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- Publication type:
- Article
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
- Published in:
- Nature Genetics, 2004, v. 36, n. 5, p. 462, doi. 10.1038/ng1352
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- Publication type:
- Article
An evaluation of the draft human genome sequence.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 88, doi. 10.1038/ng0901-88
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- Publication type:
- Article
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 67, doi. 10.1038/79201
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- Publication type:
- Article
Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139614
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- Publication type:
- Article
Replication of TCF4 through Association and Linkage Studies in Late-Onset Fuchs Endothelial Corneal Dystrophy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018044
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- Publication type:
- Article
Candidate variants in TUB are associated with familial tremor.
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- PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009010
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- Publication type:
- Article
Molecular genetic testing and the future of clinical genomics.
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- Nature Reviews Genetics, 2013, v. 14, n. 6, p. 415, doi. 10.1038/nrg3493
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- Publication type:
- Article
The centrosome in human genetic disease.
- Published in:
- Nature Reviews Genetics, 2005, v. 6, n. 3, p. 194, doi. 10.1038/nrg1557
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- Publication type:
- Article
Beyond Mendel: an evolving view of human genetic disease transmission.
- Published in:
- 2002
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- Publication type:
- journal article
Human genetics and disease: Beyond mendel: an evolving view of human genetic disease transmission.
- Published in:
- Nature Reviews Genetics, 2002, v. 3, n. 10, p. 779, doi. 10.1038/nrg910
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- Publication type:
- Article
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
- Published in:
- Human Genetics, 2011, v. 129, n. 1, p. 79, doi. 10.1007/s00439-010-0902-8
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- Publication type:
- Article
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
- Published in:
- Human Genetics, 2006, v. 120, n. 2, p. 211, doi. 10.1007/s00439-006-0197-y
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- Publication type:
- Article
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 66, doi. 10.1007/s004390051011
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- Publication type:
- Article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 485, doi. 10.1038/ejhg.2010.207
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- Publication type:
- Article
Endoglin mediates fibronectin/?5?1 integrin and TGF-? pathway crosstalk in endothelial cells.
- Published in:
- EMBO Journal, 2012, v. 31, n. 19, p. 3885, doi. 10.1038/emboj.2012.246
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- Publication type:
- Article
Understanding cargo specificity in intraflagellar transport.
- Published in:
- EMBO Journal, 2011, v. 30, n. 13, p. 2518, doi. 10.1038/emboj.2011.196
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- Publication type:
- Article
Neuroscience: Imprinting in the brain.
- Published in:
- Nature, 2011, v. 475, n. 7356, p. 299, doi. 10.1038/475299a
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- Publication type:
- Article
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex.
- Published in:
- Nature, 2011, v. 473, n. 7345, p. 92, doi. 10.1038/nature09859
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- Publication type:
- Article
Journal club.
- Published in:
- 2008
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- Publication type:
- Letter
Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00949
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- Publication type:
- Article
Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry.
- Published in:
- Nature Cell Biology, 2011, v. 13, n. 4, p. 351, doi. 10.1038/ncb2183
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- Publication type:
- Article
Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio.
- Published in:
- G3: Genes | Genomes | Genetics, 2018, v. 8, n. 7, p. 2215, doi. 10.1534/g3.118.200144
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- Publication type:
- Article
Endoglin interacts with VEGFR2 to promote angiogenesis.
- Published in:
- FASEB Journal, 2018, v. 32, n. 6, p. 2934, doi. 10.1096/fj.201700867RR
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- Publication type:
- Article
Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development.
- Published in:
- FASEB Journal, 2014, v. 28, n. 3, p. 1248, doi. 10.1096/fj.13-239178
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- Publication type:
- Article
Treating Human Genetic Disease One Base Pair at a Time: The Benefits of Gene Editing.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 3, p. 486, doi. 10.1373/clinchem.2017.278309
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- Publication type:
- Article
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00406-y
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- Publication type:
- Article