JENNIFER POSEY to Genetic Association Studies
This is a "connection" page, showing publications JENNIFER POSEY has written about Genetic Association Studies.
Connection Strength
1.764
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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: 0.527
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Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540.
Score: 0.138
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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics. 2021 05 20; 48(5):396-402.
Score: 0.136
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.125
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TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 01; 41(1):182-195.
Score: 0.123
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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 09; 176(9):1897-1909.
Score: 0.113
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.111
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
Score: 0.110
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Am J Hum Genet. 2025 May 01; 112(5):1139-1157.
Score: 0.045
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Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024 Jun; 105(6):620-629.
Score: 0.042
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Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797.
Score: 0.036
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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 03; 24(3):631-644.
Score: 0.036
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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 09; 23(9):1715-1725.
Score: 0.034
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Perturbations of genes essential for M?llerian duct and W?lffian duct development in Mayer-Rokitansky-K?ster-Hauser syndrome. Am J Hum Genet. 2021 02 04; 108(2):337-345.
Score: 0.034
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TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family. Pediatr Neurol. 2020 09; 110:89-91.
Score: 0.032
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Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399.
Score: 0.032
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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501.
Score: 0.031
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.030
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
Score: 0.029