Aida M. Bertoli‐Avella

5.6k citations

65 papers · 1.4k indexed · h-index 21

Genetics top 5%
- Genomics and Rare Diseases 18
- Genetics and Neurodevelopmental Disorders 14
- Genomic variations and chromosomal abnormalities 8
- Genetic Associations and Epidemiology 5
Molecular Biology
- Congenital heart defects research 6
- RNA Research and Splicing 6
- RNA and protein synthesis mechanisms 5
- RNA regulation and disease 5
Urology top 10%
Pediatrics, Perinatology and Child Health top 10%
Pulmonary and Respiratory Medicine top 10%

Co-authors: Ben A. Oostra Peter Heutink Cornelia M. van Duijn Arndt Rolfs Yurii S. Aulchenko Kristel Sleegers Peter Bauer Esther de Graaff
Cited by: Genetics Molecular Biology Urology
Journals: SHILAP Revista de lepidopterología (2 papers)Circulation Research (1 paper)Journal of the American Society of Nephrology (2 papers)
Partner nations: Netherlands Germany United States

In The Last Decade

Aida M. Bertoli‐Avella

60 papers receiving 1.4k citations

Peers

Countries citing papers authored by Aida M. Bertoli‐Avella

Since Specialization

Citations

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

Fields of papers citing papers by Aida M. Bertoli‐Avella

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Aida M. Bertoli‐Avella. 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 M. Bertoli‐Avella. The network helps show where Aida M. Bertoli‐Avella may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Aida M. Bertoli‐Avella, 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 Aida M. Bertoli‐Avella Line = papers co-authored together Aida M. Bertoli‐Avella links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children Clinical Genetics ·Nour Elkhateeb,Mahmoud Y. Issa,Hasnaa M. Elbendary,Walaa Elnaggar,Areef Ramadan,Karima Rafat,Mona Kamel,Sherif F. Abdel‐Ghafar,Fawzia Amer,Hebatallah M Hassaan,Roberta Trunzo,Catarina Pereira,Mohamed S. Abdel‐Hamid,Felice D’Arco,Peter Bauer,Aida M. Bertoli‐Avella,Marian Girgis,Joseph G. Gleeson,Maha S. Zaki,Laila Selim	2024	5
2	Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases European Journal of Human Genetics ·Harvy Velasco,Aida M. Bertoli‐Avella,Carolina Jaramillo Jaramillo,Danny Styvens Cardona,Leonel Andrés González,Melisa Naranjo Vanegas,Juan Pablo Valencia-Arango,Cesar Augusto Buitrago,Jorge Alberto Gutiérrez González,Jonas Marcello,Peter Bauer,Juliana Espinosa Moncada	2024	2
3	Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia Clinical Genetics ·Luba M. Pardo,Ruxandra Aanicai,Emir Zonic,Anna H. Hakonen,Susan Zielske,Peter Bauer,Aida M. Bertoli‐Avella	2023	0
4	A founder DBR1 variant causes a lethal form of congenital ichthyosis Human Genetics ·Hanan E. Shamseldin,Mukunth Sadagopan,Javier Martini,Ruslan Al‐Ali,Mandy Radefeldt,Mojgan Ataei,Sabrina Lemke,Zuhair Rahbeeni,Fuad Al Mutairi,Faroug Ababneh,Hadeel Abdollah Alrukban,Firdous Abdulwahab,Saleh Mohammed Nasser Alhajj,Peter Bauer,Aida M. Bertoli‐Avella,Fowzan S. Alkuraya	2023	6
5	Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis Molecular Genetics & Genomic Medicine ·Fatima Alabdulrazzaq,Talal Alanzi,Haya H. Al‐Balool,Alice Gardham,Emma Wakeling,Harry G. Leitch,Moeenaldeen AlSayed,Maha Abdulrahim,Abdulaziz Aladwani,Antonio Romito,Kapil Kampe,Sacha Ferdinandusse,Ashraf H. Aboelanine,Amira Raudhah Abdullah,Amal Alwadani,Lailá Bastaki,Frédéric M. Vaz,Aida M. Bertoli‐Avella,Dana Marafi	2023	4
6	Pathogenic REST variant causing Jones syndrome and a review of the literature European Journal of Human Genetics ·Elisa Rahikkala,Johanna Julku,Sari Koskinen,Tommi Keski-Filppula,Stephanie Weißgraeber,Aida M. Bertoli‐Avella,Sanna Häkli,Minna Kraatari‐Tiri	2022	3
7	Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease European Journal of Medical Genetics ·Anett Marais,Aida M. Bertoli‐Avella,Christian Beetz,Umut Altunoğlu,Amal Alhashem,Sarar Mohamed,Abdulaziz Alghamdi,P. A. Willems,Eirini Tsoutsou,Helena Fryssira,Roser Pons,Reem Almarzooq,Elif Karatoprak,Akif Ayaz,Gökçen Ünverengil,María Calvo,Zafer Yüksel,Peter Bauer	2022	4
8	Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders Clinical Genetics ·Juliette Dupont,José Pedro Vieira,Ana Lisa Taylor Tavares,Carla Conceição,Suliman Khan,Aida M. Bertoli‐Avella,Ana Berta Sousa	2021	4
9	Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis Journal of the American Society of Nephrology ·Veronica Arora,Suliman Khan,Ayman W. El‐Hattab,Ratna Dua Puri,María Eugenia Rocha,Rijad Merdzanic,Omid Paknia,Christian Beetz,Arndt Rolfs,Aida M. Bertoli‐Avella,Peter Bauer,Ishwar C. Verma	2020	12
10	Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy Acta Neuropathologica ·Mohammed A. AlMuhaizea,Rawan Almass,Aljouhra AlHargan,Anoud Albader,Eva Medico Salsench,Jude Howaidi,Jacie Ihinger,Peter Karachunski,Amber Begtrup,Monica Segura Castell,Peter Bauer,Aida M. Bertoli‐Avella,Ibrahim H. Kaya,Jumanah Al-Sufayan,Laila AlQuait,Aziza Chedrawi,Stefan T. Arold,Dilek Çolak,Tahsin Stefan Barakat,Namik Kaya	2020	15
11	An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene Clinical Genetics ·Kornélia Tripolszki,Erina Sasaki,Ronja Hotakainen,Abdul Halim Kassim,Catarina Pereira,Arndt Rolfs,Peter Bauer,William Reardon,Aida M. Bertoli‐Avella	2020	15
12	Novel clinical and genetic insight into CXorf56-associated intellectual disability European Journal of Human Genetics ·María Eugenia Rocha,Tainá Regina Damaceno Silveira,Erina Sasaki,Daíse Moreno Sás,Charles Marques Lourenço,Krishna Kumar Kandaswamy,Christian Beetz,Arndt Rolfs,Peter Bauer,William Reardon,Aida M. Bertoli‐Avella	2019	5
13	Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population Genetics in Medicine ·Peter Bauer,Krishna Kumar Kandaswamy,Maximilian E. R. Weiss,Omid Paknia,Martin Werber,Aida M. Bertoli‐Avella,Zafer Yüksel,Malgorzata Bochinska,Gabriela Oprea,Shivendra Kishore,Volkmar Weckesser,Ellen Karges,Arndt Rolfs	2018	19
14	Systematic review of frequent users of emergency departments in non-US hospitals European Journal of Emergency Medicine ·Sofie van Tiel,P.P.M. Rood,Aida M. Bertoli‐Avella,Vicky Erasmus,Juanita A. Haagsma,Ed van Beeck,P. Patka,Suzanne Polinder	2015	50
15	Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome Osteoarthritis and Cartilage ·E.V. Raine,Louise N. Reynard,Ingrid M.B.H. van de Laar,Aida M. Bertoli‐Avella,John Loughlin	2014	14
16	Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder European Journal of Human Genetics ·Rinus Vegt,Aida M. Bertoli‐Avella,J.H.M. Tulen,Bianca de Graaf,Annemieke J.M.H. Verkerk,Jeroen Vervoort,Carla M Twigt,Anneke Maat‐Kievit,Ruud van Tuijl,Marieke van der Lijn,Michiel W. Hengeveld,Ben A. Oostra	2009	12
17	ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux Journal of the American Society of Nephrology ·Aida M. Bertoli‐Avella,Maria Luisa Conte,Francesca Punzo,Bianca M. de Graaf,Giuliana Lama,Angela La Manna,Cesare Polito,Carolina Grassia,Brúno Nobili,Pier Francesco Rambaldi,Ben A. Oostra,Silverio Perrotta	2008	55
18	Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems The American Journal of Human Genetics ·Alice S. Brooks,Aida M. Bertoli‐Avella,Grzegorz Burzynski,Guido J. Breedveld,Jan Osinga,Ludolf G. Boven,Jane A. Hurst,Grazia M.S. Mancini,Maarten H. Lequin,I.F.M. de Coo,Ivana Matera,Esther de Graaff,Carel Meijers,Patrick J. Willems,Dick Tibboel,Ben A. Oostra,Robert M.W. Hofstra	2005	106
19	Chasing genes in Alzheimer?s and Parkinson?s disease Human Genetics ·Aida M. Bertoli‐Avella,Ben A. Oostra,Peter Heutink	2004	37
20	ACE gene is associated with Alzheimer's disease and atrophy of hippocampus and amygdala Neurobiology of Aging ·Kristel Sleegers,Tom den Heijer,Ewoud J. van Dijk,Albert Hofman,Aida M. Bertoli‐Avella,Peter J. Koudstaal,Monique M.B. Breteler,Cornelia M. van Duijn	2004	54

About Aida M. Bertoli‐Avella

Aida M. Bertoli‐Avella is a scholar working on Genetics, Neurology and Physiology, having authored 65 papers that have together received 1.4k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (18 papers), Genetics and Neurodevelopmental Disorders (14 papers), Genomic variations and chromosomal abnormalities (8 papers), Congenital heart defects research (6 papers), RNA Research and Splicing (6 papers), RNA and protein synthesis mechanisms (5 papers), Genetic Associations and Epidemiology (5 papers) and RNA regulation and disease (5 papers). The work is most often cited by research in Genetics (563 citations), Molecular Biology (611 citations) and Urology (54 citations). Aida M. Bertoli‐Avella has collaborated with scholars based in Netherlands, Germany and United States. Frequent co-authors include Ben A. Oostra, Peter Heutink, Cornelia M. van Duijn, Arndt Rolfs, Yurii S. Aulchenko, Kristel Sleegers, Ben A. Oostra, Peter Bauer, Esther de Graaff and Grazia M.S. Mancini. Their work appears in journals such as SHILAP Revista de lepidopterología, Circulation Research and Journal of the American Society of Nephrology.

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