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Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.580484
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- Publication type:
- Article
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
- Published in:
- 2018
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- Publication type:
- journal article
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
- Published in:
- Human Genetics, 2024, v. 143, n. 6, p. 739, doi. 10.1007/s00439-024-02677-y
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- Publication type:
- Article
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.
- Published in:
- Human Genetics, 2024, v. 143, n. 1, p. 59, doi. 10.1007/s00439-023-02621-6
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- Publication type:
- Article
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
- Published in:
- Human Genetics, 2023, v. 142, n. 10, p. 1491, doi. 10.1007/s00439-023-02597-3
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- Publication type:
- Article
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
- Published in:
- Human Genetics, 2023, v. 142, n. 4, p. 477, doi. 10.1007/s00439-023-02527-3
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- Publication type:
- Article
Mitochondrial "dysmorphology" in variant classification.
- Published in:
- Human Genetics, 2022, v. 141, n. 1, p. 55, doi. 10.1007/s00439-021-02378-w
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- Publication type:
- Article
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
- Published in:
- Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
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- Publication type:
- Article
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1628
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- Publication type:
- Article
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00973-0
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- Publication type:
- Article
PLXNA2 as a candidate gene in patients with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3859, doi. 10.1002/ajmg.a.62440
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- Publication type:
- Article
Further delineation of HIDEA syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2999, doi. 10.1002/ajmg.a.61885
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- Publication type:
- Article
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
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- Publication type:
- Article
Human 'knockouts' of CSF3 display severe congenital neutropenia.
- Published in:
- British Journal of Haematology, 2023, v. 203, n. 3, p. 477, doi. 10.1111/bjh.19054
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- Publication type:
- Article
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40909-3
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- Publication type:
- Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
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- Publication type:
- Article
A genomics approach to females with infertility and recurrent pregnancy loss.
- Published in:
- Human Genetics, 2020, v. 139, n. 5, p. 605, doi. 10.1007/s00439-020-02143-5
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- Publication type:
- Article
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
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- Publication type:
- Article
Congenital glaucoma and CYP1B1: an old story revisited.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 1043, doi. 10.1007/s00439-018-1878-z
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- Publication type:
- Article
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 221, doi. 10.1007/s00439-019-01979-w
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- Publication type:
- Article
Correction to: Expanding the genetic heterogeneity of intellectual disability.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Expanding the genetic heterogeneity of intellectual disability.
- Published in:
- Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2
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- Publication type:
- Article
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
- Published in:
- Human Genetics, 2017, v. 136, n. 2, p. 205, doi. 10.1007/s00439-016-1747-6
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- Publication type:
- Article
TLE6 mutation causes the earliest known human embryonic lethality.
- Published in:
- Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0792-0
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- Publication type:
- Article
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
- Published in:
- Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0681-6
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- Publication type:
- Article
A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
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- Publication type:
- Article
Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 488, doi. 10.1111/cge.14479
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- Publication type:
- Article
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 61, doi. 10.1111/cge.14128
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- Publication type:
- Article
Confirming the recessive inheritance of PERP‐related erythrokeratoderma.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 661, doi. 10.1111/cge.13699
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- Publication type:
- Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
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- Publication type:
- Article
The genetic landscape of familial congenital hydrocephalus.
- Published in:
- 2017
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- Publication type:
- journal article
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation.
- Published in:
- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1274-3
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- Publication type:
- Article
Characterizing the morbid genome of ciliopathies.
- Published in:
- Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1099-5
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- Publication type:
- Article
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870
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- Publication type:
- Article
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
- Published in:
- Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02053-9
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- Publication type:
- Article