Publications
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Author Title [ Year] Filters: First Letter Of Title is C and Author is Lupski, James R [Clear All Filters]
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A 185, 990-994 (2021).
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med 218, (2021).
Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn 20, 995-1002 (2020).
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med 22, 1633-1641 (2020).
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. Am J Med Genet A 182, 2919-2925 (2020).
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol 143, 2296-2299 (2019).
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet 104, 213-228 (2019).
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet 137, 553-567 (2018).
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A 176, 1897-1909 (2018).
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26, 1121-1131 (2018).
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet 13, e1006905 (2017).
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet 54, 47-53 (2017).
Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet 135, 253-6 (2016).
Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet 135, 9-19 (2016).
Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization. Genom Data 8, 106-9 (2016).
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet 99, 318-36 (2016).
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet 23, 1689-93 (2015).
CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Hum Mol Genet 24, 1574-83 (2015).
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet 11, e1005686 (2015).
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet 11, e1005050 (2015).
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet 47, 654-60 (2015).
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet 57, 339-344 (2014).
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A, 1523-5 (2012).