Roberto Quadrelli

1.0k citations

26 papers · 602 indexed · h-index 10

Impact in

Sensory Systems top 5%
- Ion Channels and Receptors
Genetics top 10%
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Papers in ⓘ

Genetics 18
- Genomic variations and chromosomal abnormalities 11
- Cleft Lip and Palate Research 2
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 2
Pediatrics, Perinatology and Child Health 10
- Prenatal Screening and Diagnostics 9

Co-authors: Alicia Vaglio (19 shared papers)Taosheng Huang (3 shared papers)Christoph W. Müller (1 shared paper)Mitsuhiro Kamisago (1 shared paper)Cynthia C. Morton (1 shared paper)José Eduardo Krieger (1 shared paper)Robert C. Lin (1 shared paper)Margherita Lerone (1 shared paper)
Journals: Prenatal Diagnosis (4 papers)European Journal of Medical Genetics (2 papers)Pediatric Dermatology (2 papers)Nature Genetics (1 paper)Journal of Inherited Metabolic Disease (1 paper)
Partner nations: United States Uruguay Argentina

In The Last Decade

Roberto Quadrelli

26 papers receiving 571 citations

Peers

Countries citing papers authored by Roberto Quadrelli

Since Specialization

Citations

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

Fields of papers citing papers by Roberto Quadrelli

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Roberto Quadrelli, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Roberto Quadrelli Line = papers co-authored together Roberto Quadrelli links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Showing the 20 most-cited of 26 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations Proceedings of the National Academy of Sciences ·Craig T. Basson, Taosheng Huang, Robert C. Lin, David R. Bachinsky, Stanislawa Weremowicz, Alicia Vaglio, Rina Bruzzone, Roberto Quadrelli, Margherita Lerone, Giovanni Romeo, Margherita Silengo, Alexandre C. Pereira, José Eduardo Krieger, Sonia F. Mesquita, Mitsuhiro Kamisago, Cynthia C. Morton, Mary Ella Pierpont, Christoph W. Müller, Jonathan G. Seidman, Christine E. Seidman	1999	250
2	Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia Nature Genetics ·Matthew J. Rock, Jean Prenen, Vincent Funari, Tara Funari, Barry Merriman, Stanley F. Nelson, Ralph S. Lachman, William R. Wilcox, Soraya Reyno, Roberto Quadrelli, Alicia Vaglio, Grzegorz Owsianik, Annelies Janssens, Thomas Voets, Shiro Ikegawa, Toshiro Nagai, David L. Rimoin, Bernd Nilius, Daniel H. Cohn	2008	176
3	Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available Prenatal Diagnosis ·Roberto Quadrelli, Andrea Quadrelli, Búrix Mechoso, Mauricio Laufer, Ciro Jaumandreu, Alicia Vaglio	2006	32
4	Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysis Clinical Genetics ·Vera Großmann, Martina Höckner, Houda Karmous‐Benailly, Desheng Liang, Rudolf Puttinger, Roberto Quadrelli, Benno Röthlisberger, Adam M. Huber, Lingqian Wu, Ana Spreiz, Christine Fauth, Martin Erdel, Johannes Zschocke, Gerd Utermann, Dieter Kotzot	2010	24
5	Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita Human Mutation ·Yao-Hua Zhang, Bing-Ling Huang, Kwame Anyane‐Yeboa, Julienne A.R. Carvalho, Robert D. Clemons, T Cole, Bonald C. Figueiredo, Mark Lubinsky, Daniel L. Metzger, Roberto Quadrelli, David R. Repaske, Soraya Reyno, Laurie H. Seaver, Alicia Vaglio, Guy Van Vliet, Linda L. McCabe, Edward R.B. McCabe, James K. Phelan	2001	18
6	[Familial colonic cancer]. PubMed ·Carlos Sarroca, Roberto Quadrelli, Raúl Praderi	1978	15
7	A Girl with del(4)(q33) And Occipital Encephalocele: Clinical Description And Molecular Genetic Characterization of A Rare Patient Genetic Testing ·Roberto Quadrelli, Eugen M. Strehle, Alicia Vaglio, Mariela Larrandaburu, Búrix Mechoso, Andrea Quadrelli, Yao‐Shan Fan, Taosheng Huang	2007	11
8	Awareness and attitude toward prenatal diagnosis of chromosomal abnormalities in patients with no access to legal termination of pregnancy Prenatal Diagnosis ·Enrique C. Gadow, Florencia Petracchi, Laura Igarzábal, Andrea Gadow, Roberto Quadrelli, Hugo Krupitzki	2006	11
9	Van der Woude syndrome. A case report. Pediatric Dermatology ·R Vignale, Janana Ágata Barbosa de Araujo, Gerardo G. Pascal, Nelson Reissenweber, J Abulafia, Roberto Quadrelli, Alicia Vaglio, Mariela Larrandaburo, Soraya Reyno	1998	9
10	Hereditary nonpolyposis colorectal cancer (lynch syndrome II) in Uruguay Diseases of the Colon & Rectum ·Carlos Sarroca, Nora Alfano, Gladys Tedesco Bendin, Adriana Della Valle, Alejandra Domínguez, Roberto Quadrelli, Alicia Vaglio, Búrix Mechoso, Susan Tinley, Anne E. Harty, Jane F. Lynch, Barbara A. Franklin, Paula Kristo, T. C. Smyrk, Païvi Peltomäki, Henry T. Lynch	2000	9
11	Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death Circulation Cardiovascular Genetics ·Yuan Xue, Benedikt Schoser, Aliz R. Rao, Roberto Quadrelli, Alicia Vaglio, Verena Rupp, Christine Beichler, Stanley F. Nelson, Gudrun Schappacher‐Tilp, Christian Windpassinger, William R. Wilcox	2016	6
12	A de novo Complex Chromosome Rearrangement Involving Chromosomes 2, 3, 5, 9 and 11 Detected Prenatally and Studied Postnatally by Conventional Cytogenetics and Molecular Cytogenetic Analyses Fetal Diagnosis and Therapy ·Búrix Mechoso, Alicia Vaglio, Andrea Quadrelli, Hon Fong L. Mark, Xinli Huang, Aubrey Milunsky, Roberto Quadrelli	2007	6
13	Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family Journal of Inherited Metabolic Disease ·Aída Lemes, Paola Blasi, Gabriel González, Maria Russi, Roberto Quadrelli, Andrea Novelletto, Patrizia Malaspina	2006	6
14	A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: Clinical, cytogenetic and molecular observations European Journal of Medical Genetics ·Alicia Vaglio, Aubrey Milunsky, Xinli Huang, Andrea Quadrelli, Búrix Mechoso, Roberto Quadrelli	2007	5
15	Clinical, Cytogenetic, and Molecular Characterization of a Girl with Some Clinical Features of Down Syndrome Resulting from a Pure Partial Trisomy 21q22.11-qter Due to a De Novo Intrachromosomal Duplication Genetic Testing and Molecular Biomarkers ·Alicia Vaglio, Aubrey Milunsky, Andrea Quadrelli, Xin-Li Huang, Thomas A. Maher, Búrix Mechoso, Susana Martínez, Sinthia Pagano, Sylvia Bellini, Mariana Costabel, Roberto Quadrelli	2010	4
16	Prenatal screening for chromosome abnormalities in a region with no access to termination of pregnancy Prenatal Diagnosis ·Cynthia Inés Paolini, Andrea Gadow, Florencia Petracchi, Laura Igarzábal, Roberto Quadrelli, Enrique C. Gadow	2009	3
17	Síndrome de trisomía 9p: características clínico-evolutivas y citogenéticas. Seguimiento de doce años Alicia Vaglio, Búrix Mechoso, Andrea Quadrelli, Roberto Quadrelli	2007	3
18	Van der Woude Syndrome. A Case Report Pediatric Dermatology ·R Vignale, Juan Araujo, Gerardo G. Pascal, Nelson Reissenweber, J Abulafia, Roberto Quadrelli, Alicia Vaglio, Mariela Larrandaburo, Soraya Reyno	1998	3
19	Prenatal and Postnatal Characterization of a De Novo Xq22.1 Terminal Deletion Genetic Testing ·Alicia Vaglio, Gonzalo Greif, Mery Bernal, C Sanguinetti, Búrix Mechoso, Andrea Quadrelli, Paula Tucci, Jeff M. Milunsky, Xin-Li Huang, Sinthia Pagano, Roberto Quadrelli	2006	2
20	A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter → 22q12.1: Clinical, cytogenetic and molecular observations European Journal of Medical Genetics ·Alicia Vaglio, Aubrey Milunsky, Xinli Huang, Andrea Quadrelli, Búrix Mechoso, Thomas A. Maher, Roberto Quadrelli	2008	2

About Roberto Quadrelli

Roberto Quadrelli is a scholar working on Genetics, Pediatrics, Perinatology and Child Health, Sensory Systems, Plant Science and Genetics, having authored 26 papers that have together received 602 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (11 papers), Prenatal Screening and Diagnostics (9 papers), Chromosomal and Genetic Variations (7 papers), Congenital heart defects research (3 papers), Cleft Lip and Palate Research (2 papers), Genetic factors in colorectal cancer (2 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (2 papers) and Cardiomyopathy and Myosin Studies (2 papers). The work is most often cited by research in Sensory Systems (127 citations), Genetics (186 citations), Developmental Biology (13 citations), Molecular Biology (345 citations) and Pediatrics, Perinatology and Child Health (72 citations). Roberto Quadrelli has collaborated with scholars based in United States, Uruguay and Argentina. Frequent co-authors include Alicia Vaglio, Taosheng Huang, Christoph W. Müller, Mitsuhiro Kamisago, Cynthia C. Morton, José Eduardo Krieger, Robert C. Lin, Margherita Lerone, Margherita Silengo and Alexandre C. Pereira. Their work appears in journals such as Prenatal Diagnosis, European Journal of Medical Genetics, Pediatric Dermatology, Nature Genetics and Journal of Inherited Metabolic Disease.

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.

Explore authors with similar magnitude of impact