Co-Authors
This is a "connection" page, showing publications co-authored by JAMES LUPSKI and LINYAN MENG.
Connection Strength
0.540
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
Score: 0.180
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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: 0.144
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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: 0.048
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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: 0.048
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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: 0.043
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.040
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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: 0.037