Daniela del Gaudio

4.8k total citations
47 papers, 1.8k citations indexed

About

Daniela del Gaudio is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Daniela del Gaudio has authored 47 papers receiving a total of 1.8k indexed citations (citations by other indexed papers that have themselves been cited), including 27 papers in Genetics, 17 papers in Molecular Biology and 8 papers in Surgery. Recurrent topics in Daniela del Gaudio's work include Genomics and Rare Diseases (8 papers), Pancreatic function and diabetes (8 papers) and Genomic variations and chromosomal abnormalities (7 papers). Daniela del Gaudio is often cited by papers focused on Genomics and Rare Diseases (8 papers), Pancreatic function and diabetes (8 papers) and Genomic variations and chromosomal abnormalities (7 papers). Daniela del Gaudio collaborates with scholars based in United States, Australia and Canada. Daniela del Gaudio's co-authors include Trilochan Sahoo, Marwan Shinawi, Arthur L. Beaudet, Sarika U. Peters, Sau Wai Cheung, Jennifer R. German, Adolfo D. Garnica, Richard Person, Amy Knight Johnson and Soma Das and has published in prestigious journals such as Nature Genetics, Blood and PLoS ONE.

In The Last Decade

Daniela del Gaudio

45 papers receiving 1.7k citations

Peers

Daniela del Gaudio

GENET

PPCH

SURGE

Palma Finelli Italy

Ana Cristina Victorino Krepischi Brazil

Sebastian Lunke Australia

David Mowat Australia

Swaroop Aradhya United States

Férechté Encha‐Razavi France

Elizabeth Roeder United States

Kwame Anyane‐Yeboa United States

Renaud Touraine France

Keiko Shimojima Japan

Palma Finelli Italy

Daniela del Gaudio

1.0k ×1.0

GENET

1.2k ×1.5

211 ×0.5

PPCH

139 ×0.5

SURGE

171 ×1.0

Citations per year, relative to Daniela del Gaudio Daniela del Gaudio (= 1×) peers Palma Finelli

Countries citing papers authored by Daniela del Gaudio

Since Specialization

Citations

This map shows the geographic impact of Daniela del Gaudio's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Daniela del Gaudio with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Daniela del Gaudio more than expected).

Fields of papers citing papers by Daniela del Gaudio

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Daniela del Gaudio. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Daniela del Gaudio. The network helps show where Daniela del Gaudio may publish in the future.

Co-authorship network of co-authors of Daniela del Gaudio

This figure shows the co-authorship network connecting the top 25 collaborators of Daniela del Gaudio. A scholar is included among the top collaborators of Daniela del Gaudio based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Daniela del Gaudio. Daniela del Gaudio is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Roloff, Gregory W., Satyajit Kosuri, Adam DuVall, et al.. (2024). Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation. Haematologica. 109(11). 3739–3744. 1 indexed citations

Setia, Namrata, Daniela del Gaudio, Kelly Arndt, et al.. (2023). A novel telomere biology disease‐associated gastritis identified through a whole exome sequencing‐driven approach. The Journal of Pathology Clinical Research. 10(1). e349–e349. 1 indexed citations

Sanyoura, May, et al.. (2021). Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. Diabetes Research and Clinical Practice. 175. 108798–108798. 6 indexed citations

Deignan, Joshua L., Caroline Astbury, Garry R. Cutting, et al.. (2020). CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 22(8). 1288–1295. 44 indexed citations

Gaudio, Daniela del, Marwan Shinawi, Caroline Astbury, et al.. (2020). Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 22(7). 1133–1141. 93 indexed citations

Brandt, Tracy, Laura M. Sack, Dolores Arjona, et al.. (2019). Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genetics in Medicine. 22(2). 336–344. 88 indexed citations

Sanyoura, May, Lisa R. Letourneau, Amy E. Knight Johnson, et al.. (2019). GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants. Diabetes Research and Clinical Practice. 151. 231–236. 10 indexed citations

Keller‐Ramey, Jennifer, Amy Knight Johnson, Jennifer A. Lee, et al.. (2017). Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. Journal of Human Genetics. 63(3). 349–356. 10 indexed citations

Weaver, K. Nicole, Robert J. Hopkin, Kristen L. Sund, et al.. (2014). Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. American Journal of Medical Genetics Part A. 164(4). 1062–1068. 15 indexed citations

10.

Shinawi, Marwan, et al.. (2014). Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 537(2). 279–284. 21 indexed citations

11.

Probst, Frank J., Daniela del Gaudio, Andrew P. Salinger, et al.. (2013). A Point Mutation in the Gene for Asparagine-Linked Glycosylation 10B (Alg10b) Causes Nonsyndromic Hearing Impairment in Mice (Mus musculus). PLoS ONE. 8(11). e80408–e80408. 7 indexed citations

12.

Pfau, Ruthann, Devon Lamb Thrush, Dennis Bartholomew, et al.. (2013). MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. European Journal of Medical Genetics. 56(11). 609–613. 9 indexed citations

13.

Hanchard, Neil A., Claudia M.B. Carvalho, Patricia I. Bader, et al.. (2012). A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Medical Genetics. 13(1). 71–71. 13 indexed citations

14.

Amburgey, Kimberly, Michael W. Lawlor, Daniela del Gaudio, et al.. (2012). Large duplication in MTM1 associated with myotubular myopathy. Neuromuscular Disorders. 23(3). 214–218. 7 indexed citations

15.

Golla, Sailaja, Satish Agadi, Dennis K. Burns, et al.. (2010). Dystrophinopathy in Girls With Limb Girdle Muscular Dystrophy Phenotype. Journal of Clinical Neuromuscular Disease. 11(4). 203–208. 5 indexed citations

16.

Sahoo, Trilochan, Daniela del Gaudio, Jennifer R. German, et al.. (2008). Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nature Genetics. 40(6). 719–721. 445 indexed citations

17.

Brunetti‐Pierri, Nicola, Daniela del Gaudio, Hartmut Peters, et al.. (2008). Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation. American Journal of Medical Genetics Part A. 146A(21). 2804–2809. 16 indexed citations

18.

Gaudio, Daniela del, Yaping Yang, Barbara A. Boggs, et al.. (2008). Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Human Mutation. 29(9). 1100–1107. 69 indexed citations

19.

Shao, Lina, Hsiu‐Huei Peng, Daniela del Gaudio, et al.. (2007). A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Molecular Human Reproduction. 14(1). 33–40. 103 indexed citations

20.

Gaudio, Daniela del, Giuliana Fortunato, Josep María Gili, et al.. (2004). Genetic Typing of Corallium rubrum. Marine Biotechnology. 6(6). 511–515. 14 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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