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Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97764-9
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- Article
GNAO1 Mutation–Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.
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- Journal of Child Neurology, 2018, v. 33, n. 6, p. 413, doi. 10.1177/0883073818756134
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- Publication type:
- Article
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 1, p. 106, doi. 10.1177/0883073817740443
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- Article
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
- Published in:
- 2017
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- Publication type:
- journal article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0248-3
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- Article
The genotypic and phenotypic spectrum of PIGA deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0243-8
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- Publication type:
- Article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- 2015
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- Publication type:
- journal article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
- Published in:
- 2019
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- Publication type:
- journal article
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16669912
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- Publication type:
- Article
Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 1, p. 53, doi. 10.1093/nar/gkr690
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- Publication type:
- Article
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 712, doi. 10.1002/ajmg.a.37621
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- Article
Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans.
- Published in:
- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08142-8
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- Publication type:
- Article
Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans.
- Published in:
- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08142-8
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- Publication type:
- Article
Mos1-Mediated Transgenesis to Probe Consequences of Single Gene Mutations in Variation-Rich Isolates of Caenorhabditis elegans.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048762
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- Publication type:
- Article
GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM.
- Published in:
- BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05693-x
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- Publication type:
- Article
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0132-5
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- Article
Polymorphic segmental duplication in the nematode Caenorhabditis elegans.
- Published in:
- BMC Genomics, 2009, v. 10, p. 329, doi. 10.1186/1471-2164-10-329
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- Article
Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 4, p. 1, doi. 10.26508/lsa.202302115
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- Publication type:
- Article
A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.
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- Epilepsia Open, 2023, v. 8, n. 2, p. 659, doi. 10.1002/epi4.12702
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- Publication type:
- Article
Model Organism Modifier (MOM): a user-friendly Galaxy workflow to detect modifiers from genome sequencing data using Caenorhabditis elegans.
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- G3: Genes | Genomes | Genetics, 2023, v. 13, n. 11, p. 1, doi. 10.1093/g3journal/jkad184
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- Article
FLAGS, frequently mutated genes in public exomes.
- Published in:
- BMC Medical Genomics, 2014, v. 7, p. 1, doi. 10.1186/s12920-014-0064-y
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- Publication type:
- Article
Rare disorders have many faces: in silico characterization of rare disorder spectrum.
- Published in:
- 2022
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- Publication type:
- journal article
Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 6, p. 1768, doi. 10.1111/epi.17980
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- Publication type:
- Article
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
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- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00371-y
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- Publication type:
- Article
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 435, doi. 10.1007/s10545-018-0139-6
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- Publication type:
- Article
The role of the clinician in the multi-omics era: are you ready?
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
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- Publication type:
- Article
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.961
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- Article
Dissecting the Genetic and Etiological Causes of Primary Microcephaly.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.570830
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- Article
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.815210
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- Article
The critical role of the iron–sulfur cluster and CTC components in DOG-1/BRIP1 function in Caenorhabditis elegans.
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- Nucleic Acids Research, 2024, v. 52, n. 16, p. 9586, doi. 10.1093/nar/gkae617
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- Publication type:
- Article
Spindle assembly checkpoint genes reveal distinct as well as overlapping expression that implicates MDF-2/Mad2 in postembryonic seam cell proliferation in Caenorhabditis elegans.
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- BMC Cell Biology, 2010, v. 11, p. 71, doi. 10.1186/1471-2121-11-71
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- Publication type:
- Article
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 947, doi. 10.1002/humu.23538
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- Article
GeneYenta: A PhenotypeBased Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation.
- Published in:
- Human Mutation, 2015, v. 36, n. 4, p. 432, doi. 10.1002/humu.22772
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- Publication type:
- Article
Mitogen-induced defective mitosis transforms neural progenitor cells.
- Published in:
- Neuro-Oncology, 2023, v. 25, n. 10, p. 1763, doi. 10.1093/neuonc/noad082
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- Publication type:
- Article
The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 196, doi. 10.3390/genes14010196
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- Article
Genetic Modifiers and Rare Mendelian Disease.
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- Genes, 2020, v. 11, n. 3, p. 239, doi. 10.3390/genes11030239
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- Publication type:
- Article
Uncovering Missing Heritability in Rare Diseases.
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- Genes, 2019, v. 10, n. 4, p. 275, doi. 10.3390/genes10040275
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- Publication type:
- Article
Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1402-y
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- Publication type:
- Article
Genome-wide variations in a natural isolate of the nematode Caenorhabditis elegans.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-255
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- Publication type:
- Article
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 251, doi. 10.1007/s10048-021-00652-7
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- Publication type:
- Article
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.
- Published in:
- Neurogenetics, 2015, v. 16, n. 2, p. 145, doi. 10.1007/s10048-014-0432-y
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- Publication type:
- Article
SimPEL: Simulation‐based power estimation for sequencing studies of low‐prevalence conditions.
- Published in:
- Genetic Epidemiology, 2018, v. 42, n. 5, p. 480, doi. 10.1002/gepi.22129
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- Publication type:
- Article
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 648, doi. 10.1002/acn3.203
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- Publication type:
- Article