Daniela Del Gaudio to Humans
This is a "connection" page, showing publications Daniela Del Gaudio has written about Humans.
Connection Strength
0.382
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Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. Diabetes Res Clin Pract. 2021 May; 175:108798.
Score: 0.025
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Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.
Score: 0.024
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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
Score: 0.024
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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1133-1141.
Score: 0.023
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.
Score: 0.020
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Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017 May; 173(5):1378-1382.
Score: 0.019
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Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach. J Pediatr Endocrinol Metab. 2016 May 01; 29(5):523-31.
Score: 0.018
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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9.
Score: 0.016
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Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol Genet Metab. 2014 Dec; 113(4):315-320.
Score: 0.016
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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2014 Mar 10; 537(2):279-84.
Score: 0.015
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LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining. J Hum Genet. 2011 Jul; 56(7):516-23.
Score: 0.013
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Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet. 2009 Sep; 126(3):411-23.
Score: 0.011
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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat. 2008 Sep; 29(9):1100-7.
Score: 0.010
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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: 0.009
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A novel telomere biology disease-associated gastritis identified through a whole exome sequencing-driven approach. J Pathol Clin Res. 2024 Jan; 10(1):e349.
Score: 0.007
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Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Netw Open. 2023 08 01; 6(8):e2327351.
Score: 0.007
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
Score: 0.007
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Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma. Hematol Oncol. 2022 Aug; 40(3):475-478.
Score: 0.007
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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Hum Mutat. 2022 07; 43(7):950-962.
Score: 0.007
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Germline variants drive myelodysplastic syndrome in young adults. Leukemia. 2021 08; 35(8):2439-2444.
Score: 0.006
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CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 08; 22(8):1288-1295.
Score: 0.006
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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 03 05; 106(3):405-411.
Score: 0.006
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Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020 05; 41(5):884-905.
Score: 0.006
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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 02; 22(2):336-344.
Score: 0.006
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GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants. Diabetes Res Clin Pract. 2019 May; 151:231-236.
Score: 0.005
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Reprogramming human T cell function and specificity with non-viral genome targeting. Nature. 2018 07; 559(7714):405-409.
Score: 0.005
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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
Score: 0.005
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.005
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Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA. J Clin Endocrinol Metab. 2018 01 01; 103(1):35-45.
Score: 0.005
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FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Diabetes. 2018 05; 19(3):388-392.
Score: 0.005
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 04; 20(4):464-469.
Score: 0.005
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Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes. Leukemia. 2017 05; 31(5):1226-1229.
Score: 0.005
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Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8.
Score: 0.004
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MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. Eur J Med Genet. 2013 Nov; 56(11):609-13.
Score: 0.004
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Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory. Clin Genet. 2014 Apr; 85(4):353-8.
Score: 0.004
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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet. 2012 Aug 10; 13:71.
Score: 0.003
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81.
Score: 0.003
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.003
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Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. J Clin Neuromuscul Dis. 2010 Jun; 11(4):203-8.
Score: 0.003
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Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008 Nov 01; 146A(21):2804-9.
Score: 0.003
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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008 Jun; 40(6):719-21.
Score: 0.003
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Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7.
Score: 0.002
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27.
Score: 0.002