Publications
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Author [ Title] Year Filters: Author is Gonzaga-Jauregui, Claudia [Clear All Filters]
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr 59, 17-21 (2014).
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A 164A, 2328-34 (2014).
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168, 830-842.e7 (2017).
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet 29, 3516-3531 (2021).
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol 70, 1491-8 (2013).
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet 23, 342-6 (2015).
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94, 915-23 (2014).
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med 4, 77-94 (2016).
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest 125, 636-51 (2015).
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 16, 386-394 (2014).
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation. Cold Spring Harb Mol Case Stud 3, a000984 (2017).
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med 5, 57 (2013).
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep 12, 1169-83 (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).
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics 16, 286 (2015).