CHRISTINE ENG to Adult
This is a "connection" page, showing publications CHRISTINE ENG has written about Adult.
Connection Strength
0.333
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
Score: 0.035
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.026
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Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Prenat Diagn. 2012 Apr; 32(4):315-20.
Score: 0.022
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Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med. 2008 Jan; 10(1):13-8.
Score: 0.016
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Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006 Sep; 8(9):539-48.
Score: 0.015
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Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth. Prenat Diagn. 2025 Sep; 45(10):1313-1324.
Score: 0.014
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Musculoskeletal Ultrasound as a Motivator for Selecting a Physical Medicine and Rehabilitation Residency Program in the United States: A Multicenter Survey Study. Am J Phys Med Rehabil. 2022 01 01; 101(1):97-103.
Score: 0.011
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Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.010
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Telemedicine During COVID-19 for Outpatient Sports and Musculoskeletal Medicine Physicians. PM R. 2020 09; 12(9):926-932.
Score: 0.010
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Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genet Med. 2020 08; 22(8):1320-1328.
Score: 0.010
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.
Score: 0.009
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
Score: 0.009
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.009
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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat. 2019 03; 40(3):267-280.
Score: 0.009
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.009
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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 07 05; 103(1):154-162.
Score: 0.008
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Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018 04; 123(4):416-427.
Score: 0.008
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.008
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.008
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.007
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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 09; 26(9):1170-7.
Score: 0.007
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.007
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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. PLoS Genet. 2016 Apr; 12(4):e1005848.
Score: 0.007
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Pain Reduction and Repeat Injections After Transforaminal Epidural Injection With Particulate Versus Nonparticulate Steroid?for the Treatment of Chronic Painful Lumbosacral?Radiculopathy. PM R. 2016 11; 8(11):1039-1045.
Score: 0.007
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.007
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.007
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Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7.
Score: 0.006
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Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol. 2013 Mar; 88(3):172-8.
Score: 0.006
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Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 06; 367(23):2175-84.
Score: 0.006
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39.
Score: 0.004
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Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb; 93(2):112-28.
Score: 0.004
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A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006 Aug; 8(8):465-73.
Score: 0.004
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Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr. 2004 Mar-Apr; 28(2):158-68.
Score: 0.003
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Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003 Sep; 64(3):801-7.
Score: 0.003