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Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63798
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- Article
Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
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- Annals of the New York Academy of Sciences, 2016, v. 1366, n. 1, p. 49, doi. 10.1111/nyas.12850
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- Article
Sequence variant in the laminin γ1 ( LAMC1) gene associated with familial pelvic organ prolapse.
- Published in:
- Human Genetics, 2007, v. 120, n. 6, p. 847, doi. 10.1007/s00439-006-0267-1
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- Article
High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients.
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- Frontiers in Cardiovascular Medicine, 2024, p. 1, doi. 10.3389/fcvm.2024.1424551
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- Article
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2410
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- Publication type:
- Article
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2330
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- Publication type:
- Article
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2305
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- Article
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2261
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- Article
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.
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- Science Translational Medicine, 2018, v. 10, n. 459, p. 1, doi. 10.1126/scitranslmed.aat9356
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- Article
Phenotypic and Genetic Analysis of a Large Family With Migraine-Associated Vertigo.
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- Headache: The Journal of Head & Face Pain, 2008, v. 48, n. 10, p. 1460, doi. 10.1111/j.1526-4610.2007.01002.x
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- Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
- Published in:
- 2021
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- Publication type:
- journal article
The functional O-mannose glycan on α- dystroglycan contains a phospho-ribitol primed for matriglycan addition.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.14473
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- Publication type:
- Article
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 10, p. 1237, doi. 10.1001/jamaneurol.2014.1944
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- Publication type:
- Article
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0479-0
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- Article
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02748-9
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- Publication type:
- Article
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
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- Journal of Molecular Neuroscience, 2017, v. 61, n. 3, p. 312, doi. 10.1007/s12031-016-0878-5
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- Article
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 487, doi. 10.1002/humu.23946
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- Article
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
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- Human Mutation, 2018, v. 39, n. 11, p. 1641, doi. 10.1002/humu.23643
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- Article
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2320, doi. 10.1002/acn3.51209
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- Publication type:
- Article
Novel Missense and Splice Site Mutations in USH2A , CDH23 , PCDH15 , and ADGRV1 Are Associated With Usher Syndrome in Lebanon.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.864228
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- Article
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33547-8
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- Publication type:
- Article
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1473, doi. 10.1038/ejhg.2015.71
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- Article
Truncating mutations in APP cause a distinct neurological phenotype.
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- 2016
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- Publication type:
- journal article
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
- Published in:
- 2015
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- Publication type:
- journal article
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.
- Published in:
- Nature, 2010, v. 468, n. 7326, p. 973, doi. 10.1038/nature09626
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- Article
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.
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- Bioinformatics, 2011, v. 27, n. 19, p. 2648, doi. 10.1093/bioinformatics/btr462
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- Article
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
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- 2022
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- Publication type:
- journal article
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
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- Neuropathology, 2020, v. 40, n. 3, p. 302, doi. 10.1111/neup.12641
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- Article
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3163, doi. 10.1093/hmg/ddv067
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- Publication type:
- Article
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3481, doi. 10.1093/hmg/ddu056
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- Article
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
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- 2019
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- Publication type:
- case study
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
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- 2017
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- Publication type:
- journal article
P1‐123: VERY YOUNG ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE WITH SPASTIC PARAPARESIS DUE TO A NOVEL (F388S) PSEN1 MUTATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P282, doi. 10.1016/j.jalz.2019.06.678
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- Publication type:
- Article
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 365, doi. 10.1038/ng.780
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- Publication type:
- Article
Mutations in PYCR1 cause cutis laxa with progeroid features.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1016, doi. 10.1038/ng.413
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- Article
U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
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- PLoS Genetics, 2010, v. 6, n. 1, p. 1, doi. 10.1371/journal.pgen.1000832
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- Publication type:
- Article
An Infant with MLH3 Variants, FOXG1-Duplication and Multiple, Benign Cranial and Spinal Tumors: A Clinical Exome Sequencing Study.
- Published in:
- Genes, Chromosomes & Cancer, 2016, v. 55, n. 2, p. 131, doi. 10.1002/gcc.22319
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- Publication type:
- Article
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis.
- Published in:
- ACG Case Reports Journal, 2019, v. 6, n. 3, p. 1, doi. 10.14309/crj.0000000000000021
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- Publication type:
- Article
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.601584
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- Publication type:
- Article
A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 251, doi. 10.1093/hmg/ddi441
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- Publication type:
- Article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275
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- Publication type:
- Article
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 709, doi. 10.1038/ng.2259
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- Publication type:
- Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
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- Publication type:
- Article
A novel mutation in KCNA1 causes episodic ataxia without myokymia.
- Published in:
- Human Mutation, 2004, v. 24, n. 6, p. 536, doi. 10.1002/humu.9295
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- Publication type:
- Article
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
- Published in:
- Glycobiology, 2018, v. 28, n. 5, p. 276, doi. 10.1093/glycob/cwy014
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- Publication type:
- Article
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1880, doi. 10.1001/jama.2014.14604
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- Publication type:
- Article
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
- Published in:
- Archives of Iranian Medicine (AIM), 2016, v. 19, n. 2, p. 87
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- Publication type:
- Article
Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
- Published in:
- Brain Communications, 2023, v. 5, n. 2, p. 1, doi. 10.1093/braincomms/fcad030
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- Publication type:
- Article
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1430, doi. 10.1002/ajmg.a.62126
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- Publication type:
- Article