Margarida Venâncio

541 citations

22 papers · 297 indexed · h-index 10

Co-authors: Jorge Saraiva Indira B. Taylor Sahan V. Rannan‐Eliya A O'Rourke Jo C. Byren Elena G. Bochukova Jane A. Hurst Lina Ramos
Topics: Genomic variations and chromosomal abnormalities (5 papers)Genetics and Neurodevelopmental Disorders (5 papers)Chromosomal and Genetic Variations (3 papers)
Cited by: Genetics Molecular Biology Developmental Biology
Journals: SHILAP Revista de lepidopterologíaInternational Journal of Molecular Sciences Journal of Medical Genetics
Partner nations: Portugal United Kingdom Brazil

In The Last Decade

Margarida Venâncio

20 papers receiving 291 citations

Peers

Countries citing papers authored by Margarida Venâncio

Since Specialization

Citations

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

Fields of papers citing papers by Margarida Venâncio

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Margarida Venâncio

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

All Works

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

20 of 20 papers shown

#	Work	Indexed citations
1	Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals 2025 ·International Journal of Molecular Sciences ·(unknown),(unknown),Paulo Silva,(unknown),(unknown),Margarida Venâncio,Jorge Sequeiros,(unknown),Diana Antunes,Jorge Oliveira	0
2	Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature 2019 ·Annals of Pediatric Endocrinology & Metabolism ·(unknown),(unknown),Alexandra Vieira,Margarida Venâncio,Lina Ramos,(unknown)	3
3	Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS 2017 ·European Journal of Medical Genetics ·Frederico S. Regateiro,Serkan Belkaya,(unknown),Sandra Roberta G. Ferreira,(unknown),(unknown),Margarida Venâncio,Jean‐Laurent Casanova,(unknown),Emmanuelle Jouanguy,Luísa Diogo	18
4	Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism 2016 ·Anais Brasileiros de Dermatologia ·(unknown),(unknown),Vera Teixeira,(unknown),Margarida Venâncio,(unknown)	3
5	Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients 2015 ·Molecular Cytogenetics ·Isabel M. Carreira,Susana Isabel Ferreira,Eunice Matoso,(unknown),(unknown),(unknown),(unknown),Marta L. Pinto,(unknown),(unknown),(unknown),Lúcia C. Simões,Francisco Caramelo,Lina Ramos,Margarida Venâncio,Fabiana Ramos,Ana Beleza‐Meireles,Joaquim Sá,Jorge Saraiva,Joana Barbosa Melo	13
6	12q21.2q22 deletion: A new patient 2015 ·American Journal of Medical Genetics Part A ·(unknown),(unknown),Joana Barbosa Melo,(unknown),Margarida Venâncio,Isabel M. Carreira,Jorge Saraiva	4
7	Expressão fenotípica da miocardiopatia hipertrófica e realce tardio na ressonância magnética cardíaca 2014 ·Revista Portuguesa de Cardiologia ·Francisca Caetano,Ana Botelho,Joana Trigo,Joana Silva,(unknown),Margarida Venâncio,Jorge C. Pais,(unknown),António Leitão Marques	3
8	Phenotypic expression in hypertrophic cardiomyopathy and late gadolinium enhancement on cardiac magnetic resonance 2014 ·SHILAP Revista de lepidopterología ·Francisca Caetano,Ana Botelho,Joana Trigo,Joana Silva,(unknown),Margarida Venâncio,Jorge C. Pais,(unknown),António Leitão Marques	1
9	Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity 2013 ·Pediatric Neurology ·(unknown),(unknown),Jonathan Baets,M. Zimoń,Margarida Venâncio,Jorge Saraiva,Luís Negrão,Isabel Fineza	17
10	Non‐syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children's Deafness 2013 ·Journal of Genetic Counseling ·(unknown),Milena Paneque,(unknown),Margarida Venâncio,Jorge Sequeiros,Jorge Saraiva	5
11	Intellectual disability, unusual facial morphology and hand anomalies in sibs 2013 ·American Journal of Medical Genetics Part A ·Sérgio B. Sousa,Margarida Venâncio,Estelle Chanudet,Rodger Palmer,Lina Ramos,Philip L. Beales,Gudrun E. Moore,Jorge Saraiva,Raoul C. M. Hennekam	2
12	Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region 2012 ·Molecular Cytogenetics ·Susana Isabel Ferreira,Eunice Matoso,Margarida Venâncio,Jorge Saraiva,Joana Barbosa Melo,Isabel M. Carreira	9
13	Left ventricular noncompaction: analysis of a pediatric population. 2011 ·PubMed ·Marta de Antonio,(unknown),Margarida Venâncio,Paula Martins,(unknown),António Pires,(unknown),Isabel Santos,Ana Paula Lucas Mota,Ricardo Duarte,(unknown),(unknown),Jorge Saraiva,Eduardo Castela	2
14	Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007 2010 ·ISRN Obstetrics and Gynecology ·Fabiana Ramos,Sofia Maia,(unknown),(unknown),Joaquim P. Marques de Sá,Sérgio B. Sousa,Margarida Venâncio,(unknown),Eulália Galhano,Lina Ramos,Jorge Saraiva	2
15	Identification of novel L2HGDH gene mutations and update of the pathological spectrum 2009 ·Journal of Human Genetics ·Laura Vilarinho,Sandra Tafulo,Michelina Sibilio,Fernando Kok,Federica Fontana,Luísa Diogo,Margarida Venâncio,(unknown),Célia Nogueira,Carla Valongo,Giancarlo Parenti,António Amorim,Luı́sa Azevedo	6
16	Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients 2009 ·Journal of Child Neurology ·Mònica Santos,Teresa Temudo,Teresa Kay,Inês Carrilho,Ana Medeira,(unknown),(unknown),(unknown),Margarida Venâncio,Eulália Calado,Ana Moreira,Guiomar Oliveira,Patrı́cia Maciel	10
17	An explanation for another familial case of Rett syndrome: maternal germline mosaicism 2007 ·European Journal of Human Genetics ·Margarida Venâncio,Mònica Santos,(unknown),Patrı́cia Maciel,Jorge Saraiva	25
18	Clinical dividends from the molecular genetic diagnosis of craniosynostosis† 2007 ·American Journal of Medical Genetics Part A ·Andrew O.M. Wilkie,Elena G. Bochukova,(unknown),Indira B. Taylor,Sahan V. Rannan‐Eliya,Jo C. Byren,Steven A. Wall,Lina Ramos,Margarida Venâncio,Jane A. Hurst,A O'Rourke,Louise Williams,A Seller,Tracy Lester	66
19	Clinical dividends from the molecular genetic diagnosis of craniosynostosis 2006 ·American Journal of Medical Genetics Part A ·Andrew O.M. Wilkie,Elena G. Bochukova,(unknown),Indira B. Taylor,Sahan V. Rannan‐Eliya,Jo C. Byren,Steven A. Wall,Lina Ramos,Margarida Venâncio,Jane A. Hurst,A O'Rourke,Louise Williams,A Seller,Tracy Lester	80
20	Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement 2005 ·Prenatal Diagnosis ·(unknown),Lina Ramos,Margarida Venâncio,(unknown),Sérgio Castedo,Jorge Saraiva	9

About Margarida Venâncio

Margarida Venâncio is a scholar working on Genetics, Developmental Biology and Otorhinolaryngology, having authored 22 papers that have together received 297 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (5 papers), Genetics and Neurodevelopmental Disorders (5 papers) and Chromosomal and Genetic Variations (3 papers). The work is most often cited by research in Genetics (233 citations), Molecular Biology (140 citations) and Developmental Biology (4 citations). Margarida Venâncio has collaborated with scholars based in Portugal, United Kingdom and Brazil. Frequent co-authors include Jorge Saraiva, Indira B. Taylor, Sahan V. Rannan‐Eliya, A O'Rourke, Jo C. Byren, Elena G. Bochukova, Jane A. Hurst, Lina Ramos, Andrew O.M. Wilkie and A Seller. Their work appears in journals such as SHILAP Revista de lepidopterología, International Journal of Molecular Sciences and Journal of Medical Genetics.

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