Co-Authors
This is a "connection" page, showing publications co-authored by CHRISTINE ENG and JAMES LUPSKI.
Connection Strength
2.010
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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: 0.150
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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: 0.148
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.130
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.120
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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013; 5(6):57.
Score: 0.118
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022 09 30; 14(1):113.
Score: 0.056
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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 Dec 07; 6(1):104.
Score: 0.053
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373.
Score: 0.053
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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776.
Score: 0.048
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.
Score: 0.048
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.046
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.045
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.
Score: 0.044
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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 03 25; 11(1):16.
Score: 0.044
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.044
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Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285.
Score: 0.042
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.042
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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: 0.040
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 10 31; 9(1):95.
Score: 0.040
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Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 08; 136(8):1009-1011.
Score: 0.039
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.038
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr; 49(4):613-617.
Score: 0.038
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
Score: 0.038
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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: 0.037
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
Score: 0.037
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
Score: 0.037
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.037
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.
Score: 0.035
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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: 0.035
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
Score: 0.035
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.035
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.035
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
Score: 0.035
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.032
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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
Score: 0.031
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Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3182-6.
Score: 0.030
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87.
Score: 0.029
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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: 0.022
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Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 2009 May; 17(5):573-81.
Score: 0.022
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.019