Eden Haverfield to Humans
This is a "connection" page, showing publications Eden Haverfield has written about Humans.
Connection Strength
0.156
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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 08 18; 19(1):199.
Score: 0.027
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Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort. Genet Med. 2015 Aug; 17(8):623-9.
Score: 0.017
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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul; 17(7):911-8.
Score: 0.011
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UGT1A1 variation and gallstone formation in sickle cell disease. Blood. 2005 Feb 01; 105(3):968-72.
Score: 0.008
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Reader Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis. Neurology. 2023 09 05; 101(10):456-457.
Score: 0.008
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Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer. JCO Precis Oncol. 2023 08; 7:e2200695.
Score: 0.008
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Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 04; 25(4):100006.
Score: 0.007
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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis. JAMA Cardiol. 2021 08 01; 6(8):902-909.
Score: 0.007
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Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)". Genet Med. 2019 12; 21(12):2836-2837.
Score: 0.006
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Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. Am J Med Genet A. 2018 09; 176(9):2024-2027.
Score: 0.006
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. Genet Med. 2018 03; 20(3):351-359.
Score: 0.005
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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Am J Med Genet A. 2016 07; 170(7):1791-8.
Score: 0.005
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FTO variant associated with malformation syndrome. Am J Med Genet A. 2016 Apr; 170A(4):1023-8.
Score: 0.005
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Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016 07; 18(7):696-704.
Score: 0.005
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Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing. J Genet Couns. 2016 Apr; 25(2):337-43.
Score: 0.004
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Aug 06; 97(2):343-52.
Score: 0.004
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Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death. Pediatr Dev Pathol. 2015 Jul-Aug; 18(4):324-6.
Score: 0.004
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Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. J Inherit Metab Dis. 2015 Sep; 38(5):941-8.
Score: 0.004
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Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenat Diagn. 2014 Feb; 34(2):163-7.
Score: 0.004
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A pharmacogenetic study of vorinostat glucuronidation. Pharmacogenet Genomics. 2010 Oct; 20(10):638-41.
Score: 0.003
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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42.
Score: 0.003
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Comparison of performance of three commercial platforms for warfarin sensitivity genotyping. Clin Chim Acta. 2009 Aug; 406(1-2):143-7.
Score: 0.003
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Genetic evidence in support of a shared Eurasian-North African dairying origin. Hum Genet. 2005 Jun; 117(1):34-42.
Score: 0.002