Found: 14
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Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
- Published in:
- Annals of the New York Academy of Sciences, 2016, v. 1366, n. 1, p. 49, doi. 10.1111/nyas.12850
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- Publication type:
- Article
Identification and validation of genes affecting aortic lesions in mice.
- Published in:
- 2010
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- Publication type:
- journal article
Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1026
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- Publication type:
- Article
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1906, doi. 10.1002/ajmg.a.61641
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- Publication type:
- Article
Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks.
- Published in:
- Nature Genetics, 2009, v. 41, n. 4, p. 415, doi. 10.1038/ng.325
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- Publication type:
- Article
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1473, doi. 10.1038/ejhg.2015.71
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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
Clinical Exome Reanalysis: Current Practice and Beyond.
- Published in:
- Molecular Diagnosis & Therapy, 2021, v. 25, n. 5, p. 529, doi. 10.1007/s40291-021-00541-7
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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
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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- Publication type:
- Article
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1641, doi. 10.1002/humu.23643
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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
Instability of a dinucleotide repeat in the 3′-untranslated region (UTR) of the microsomal prostaglandin E synthase-1 (mPGES-1) gene in microsatellite instability-high (MSI-H) colorectal carcinoma.
- Published in:
- Molecular Oncology, 2015, v. 9, n. 7, p. 1252, doi. 10.1016/j.molonc.2015.01.009
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- Publication type:
- Article
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-49
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- Publication type:
- Article