Aida Telegrafi

2.4k total citations
14 papers, 364 citations indexed

About

Aida Telegrafi is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Aida Telegrafi has authored 14 papers receiving a total of 364 indexed citations (citations by other indexed papers that have themselves been cited), including 10 papers in Genetics, 9 papers in Molecular Biology and 2 papers in Surgery. Recurrent topics in Aida Telegrafi's work include Genomics and Rare Diseases (6 papers), Genomic variations and chromosomal abnormalities (5 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Aida Telegrafi is often cited by papers focused on Genomics and Rare Diseases (6 papers), Genomic variations and chromosomal abnormalities (5 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Aida Telegrafi collaborates with scholars based in United States, Norway and United Kingdom. Aida Telegrafi's co-authors include Kristin G. Monaghan, Laura Baker, Karen W. Gripp, Megan T. Cho, Kyle Retterer, Elaine H. Zackai, Denise Batista, Wendy K. Chung, Hilary J. Vernon and Richard Leigh and has published in prestigious journals such as Neurology, The American Journal of Human Genetics and Obstetrics and Gynecology.

In The Last Decade

Aida Telegrafi

14 papers receiving 350 citations

Peers

Countries citing papers authored by Aida Telegrafi

Since Specialization

Citations

This map shows the geographic impact of Aida Telegrafi'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 Aida Telegrafi with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Aida Telegrafi more than expected).

Fields of papers citing papers by Aida Telegrafi

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Aida Telegrafi. 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 Aida Telegrafi. The network helps show where Aida Telegrafi may publish in the future.

Co-authorship network of co-authors of Aida Telegrafi

This figure shows the co-authorship network connecting the top 25 collaborators of Aida Telegrafi. A scholar is included among the top collaborators of Aida Telegrafi 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 Aida Telegrafi. Aida Telegrafi is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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14 of 14 papers shown

#	Work	Indexed citations
1	Atypical phenotypes caused by the ATP1A3 variant p.P775L (1946) 2020 ·Neurology ·Daniel G. Calame, Marwan Shinawi, Julie S. Cohen, Richard Person, Aida Telegrafi, Timothy Lotze, (unknown), Debra S. Regier	5
2	Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities 2018 ·Molecular Genetics & Genomic Medicine ·(unknown), Emily Fassi, Gabriel C. Araujo, (unknown), Aida Telegrafi, (unknown), Marwan Shinawi	20
3	De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies 2018 ·American Journal of Medical Genetics Part A ·Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine H. Zackai, Elizabeth Bhoj	38
4	De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features 2018 ·American Journal of Medical Genetics Part A ·Ganka Douglas, Megan T. Cho, Aida Telegrafi, Susan Winter, Jason Carmichael, Elaine H. Zackai, Matthew A. Deardorff, Margaret Harr, Linford Williams, (unknown), Angelika Erwin, Theresa A. Grebe, Kyle Retterer, Jane Juusola	23
5	Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome 2017 ·American Journal of Medical Genetics Part A ·Aida Telegrafi, Bryn D. Webb, (unknown), Carlos E. Speck‐Martins, David Fitzpatrick, Leah Fleming, Richard J. Redett, Andreas Dufke, Gunnar Houge, J. J. T. van Harssel, Alain Verloès, (unknown), Irini Manoli, Elizabeth C. Engle, Ethylin Wang Jabs, David Valle, John C. Carey, Julie Hoover‐Fong, Nara L. M. Sobreira	27
6	Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome 2017 ·Clinical Genetics ·Yuri A. Zárate, Louisa Kalsner, Alice Basinger, Julie R. Jones, Chumei Li, Marta Szybowska, Zhixiang Xu, Samantha A. Schrier Vergano, Aisling R. Caffrey, (unknown), Holly Dubbs, Elaine H. Zackai, Francisca Millan, Aida Telegrafi, Berivan Baskin, Richard Person, Jennifer L. Fish, David B. Everman	28
7	The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes 2016 ·American Journal of Medical Genetics Part A ·Karen W. Gripp, Laura Baker, Aida Telegrafi, Kristin G. Monaghan	34
8	Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder 2016 ·American Journal of Medical Genetics Part A ·Francisca Millan, Megan T. Cho, Kyle Retterer, Kristin G. Monaghan, Renkui Bai, Patrik Vitazka, David B. Everman, Brooke Smith, Brad Angle, Victoria H. J. Roberts, LaDonna Immken, (unknown), Marc DiFazio, Elliott H. Sherr, Eden Haverfield, Bethany Friedman, Aida Telegrafi, Jane Juusola, Wendy K. Chung, Sherri J. Bale	42
9	Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females 2016 ·The American Journal of Human Genetics ·Jennifer Bain, Megan T. Cho, Aida Telegrafi, Ashley Wilson, Susan Sklower Brooks, (unknown), Gordon C. Gowans, (unknown), (unknown), Marcia Willing, Tomi L. Toler, (unknown), Orly Elpeleg, Yufeng Shen, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung	43
10	De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features 2015 ·Molecular Case Studies ·Akemi Tanaka, Megan T. Cho, Kyle Retterer, Julie R. Jones, C. Nowak, Jessica Douglas, Yong‐hui Jiang, Allyn McConkie‐Rosell, G. Bradley Schaefer, Julie Kaylor, (unknown), Aida Telegrafi, Bethany Friedman, Ganka Douglas, Kristin G. Monaghan, Wendy K. Chung	25
11	Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings 2014 ·American Journal of Medical Genetics Part A ·Amanda L. Bergner, Juli Bollinger, Karen S. Raraigh, Crystal Tichnell, Brittney Murray, Carrie L. Blout Zawatsky, Aida Telegrafi, Cynthia A. James	29
12	6p25 microdeletion: White matter abnormalities in an adult patient 2013 ·American Journal of Medical Genetics Part A ·Hilary J. Vernon, Aida Telegrafi, Denise Batista, Margaret Owegi, Richard Leigh	32
13	Perinatal Detection of Familial Adenomatous Polyposis 2012 ·Obstetrics and Gynecology ·Meredith L. Birsner, Julie Hoover‐Fong, Aida Telegrafi, Nancy A. Hueppchen	5
14	Myoclonus‐dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7 2012 ·Clinical Genetics ·(unknown), Aida Telegrafi, (unknown), (unknown), (unknown), (unknown), Joann Bodurtha, (unknown)	13

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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