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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
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
- Published in:
- 2010
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- Publication type:
- journal 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
HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 1, p. 22, doi. 10.3390/life12010022
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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
Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2376, doi. 10.1002/ajmg.a.63322
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- Publication type:
- Article
Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1282, doi. 10.1002/ajmg.a.63150
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- Publication type:
- Article
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 498, doi. 10.1002/ajmg.a.62545
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- Publication type:
- Article
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
- Published in:
- Nature Medicine, 2012, v. 18, n. 9, p. 1423, doi. 10.1038/nm.2860
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- Publication type:
- Article
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826
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- Publication type:
- Article
Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
- Published in:
- 2011
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- Publication type:
- Correction Notice
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
- Published in:
- Nature Genetics, 2011, v. 43, n. 3, p. 189, doi. 10.1038/ng.756
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- Publication type:
- Article
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 72, doi. 10.1038/ng.726
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- Publication type:
- Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
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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
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
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 521, doi. 10.1038/ng1771
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- Publication type:
- Article
Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02149-y
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- Publication type:
- Article
Ectopic Expression of Retrotransposon-Derived PEG11/RTL1 Contributes to the Callipyge Muscular Hypertrophy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140594
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- Publication type:
- Article
Delta-Like 1 Homolog (Dlk1): A Marker for Rhabdomyosarcomas Implicated in Skeletal Muscle Regeneration.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060692
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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
Identification of Environmental Compounds That May Trigger Early Female Puberty by Activating Human GnRHR and KISS1R.
- Published in:
- Endocrinology, 2024, v. 165, n. 10, p. 1, doi. 10.1210/endocr/bqae103
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- Publication type:
- Article
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
A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.
- Published in:
- Biomedical Reports, 2021, v. 15, n. 6, p. N.PAG, doi. 10.3892/br.2021.1479
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- Publication type:
- Article
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 14, p. 2435, doi. 10.1093/hmg/ddaa120
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- Publication type:
- Article
Identification of cis-suppression of human disease mutations by comparative genomics.
- Published in:
- Nature, 2015, v. 524, n. 7564, p. 225, doi. 10.1038/nature14497
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- Publication type:
- Article
A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans.
- Published in:
- Genetics, 2014, v. 198, n. 2, p. 723, doi. 10.1534/genetics.114.168211
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- Publication type:
- Article
Correction: In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.
- Published in:
- 2015
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- Publication type:
- Correction Notice
In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.pgen.1005349
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- Publication type:
- Article
Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003384
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- Publication type:
- Article
An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 3, p. 1, doi. 10.1371/journal.pgen.1000044
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- Publication type:
- Article
CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
- Published in:
- Human Mutation, 2020, v. 41, n. 3, p. 655, doi. 10.1002/humu.23952
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- Publication type:
- Article
Novel CASK mutations in cases with syndromic microcephaly.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 993, doi. 10.1002/humu.23536
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- Publication type:
- Article
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0168-2
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- Publication type:
- Article
RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes.
- Published in:
- PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0217042
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- Publication type:
- Article
Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21373-3
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- Publication type:
- Article