JENNIFER POSEY to Genetic Variation
This is a "connection" page, showing publications JENNIFER POSEY has written about Genetic Variation.
Connection Strength
1.697
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 10; 20(10):995-1002.
Score: 0.446
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.342
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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations. Genome Med. 2024 Dec 03; 16(1):143.
Score: 0.149
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.104
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
Score: 0.104
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Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family. J Neurointerv Surg. 2020 Feb; 12(2):221-226.
Score: 0.103
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Perturbations of BMP/TGF-? and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet. 2018 10; 55(10):675-684.
Score: 0.096
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.094
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
Score: 0.094
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351.
Score: 0.086
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Exome sequencing in children with clinically suspected maturity-onset diabetes of the young. Pediatr Diabetes. 2021 11; 22(7):960-968.
Score: 0.030
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
Score: 0.029
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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 02; 8(1):13.
Score: 0.020