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OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!

If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.

Requested Article:

Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review
Chiara Leoni, Rita Blandino, Angelica Bibiana Delogu, et al.
American Journal of Medical Genetics Part A (2021) Vol. 188, Iss. 2, pp. 431-445
Closed Access | Times Cited: 43

Showing 1-25 of 43 citing articles:

Clinical overview on RASopathies
Martin Zenker
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2022) Vol. 190, Iss. 4, pp. 414-424
Open Access | Times Cited: 51
Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome
Isabel De Brouchoven, Juan Lorand, Léon Bofferding, et al.
Frontiers in Pediatrics (2025) Vol. 13
Open Access | Times Cited: 1
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study
Elizabeth I. Pierpont, Daniel Kenney‐Jung, Ryan Shanley, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 7, pp. 1556-1566
Open Access | Times Cited: 28
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
Jessica Zucco, Federica Baldan, Lorenzo Allegri, et al.
Journal of Human Genetics (2024) Vol. 69, Iss. 6, pp. 271-282
Open Access | Times Cited: 7
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants
Carolin Knauer, Henrike Haltern, Eric Schoger, et al.
Molecular Therapy — Nucleic Acids (2024) Vol. 35, Iss. 1, pp. 102123-102123
Open Access | Times Cited: 5
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Andrea Gazzin, Federico Fornari, Marcello Niceta, et al.
European Journal of Human Genetics (2024) Vol. 32, Iss. 8, pp. 964-971
Closed Access | Times Cited: 5
The heart in RASopathies
Angelica Bibiana Delogu, Giuseppe Limongelli, Paolo Versacci, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2022) Vol. 190, Iss. 4, pp. 440-451
Closed Access | Times Cited: 19
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
Alexandra Viktoria Busley, Óscar Gutiérrez‐Gutiérrez, Elke Hammer, et al.
Cell Reports (2024) Vol. 43, Iss. 7, pp. 114448-114448
Open Access | Times Cited: 4
Cardiovascular aspects of Noonan syndrome and related disorders
Martin Zenker, Cordula M. Wolf
Medizinische Genetik (2025) Vol. 37, Iss. 2, pp. 113-124
Closed Access
Efficacy of Sirolimus in Treating Refractory Lymphatic Malformation in Noonan Syndrome: A Case Study
Yasufumi Nakajima, Yoh Watanabe, K Iwata, et al.
JCEM Case Reports (2025) Vol. 3, Iss. 6
Open Access
Multidisciplinary Management of Costello Syndrome: Current Perspectives
Chiara Leoni, Germana Viscogliosi, Marco Tartaglia, et al.
Journal of Multidisciplinary Healthcare (2022) Vol. Volume 15, pp. 1277-1296
Open Access | Times Cited: 16
Precision diagnostics in children
Paul Dimitri
Cambridge Prisms Precision Medicine (2023) Vol. 1
Open Access | Times Cited: 7
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome
Ling Sun, Yumei Xie, Shushui Wang, et al.
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 11
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China
Qinchang Chen, Dian Hong, Yulu Huang, et al.
Heliyon (2024) Vol. 10, Iss. 5, pp. e27038-e27038
Open Access | Times Cited: 2
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review
Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2022) Vol. 190, Iss. 4, pp. 478-493
Closed Access | Times Cited: 10
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications
Giovanna Scorrano, Emanuele David, Elisa Calì, et al.
Genes (2023) Vol. 14, Iss. 12, pp. 2111-2111
Open Access | Times Cited: 6
Near Adult Height and Body Mass Index Changes in Growth Hormone Treated Short Children with Noonan Syndrome: The Belgian Experience
Jean De Schepper, Muriel Thomas, Koen Huysentruyt, et al.
Hormone Research in Paediatrics (2024), pp. 1-13
Closed Access | Times Cited: 1
The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome—Clinical Example and Brief Literature Review
Paweł Grabala, P.M. Kowalski, Marek J. Rudziński, et al.
Life (2024) Vol. 14, Iss. 6, pp. 740-740
Open Access | Times Cited: 1
Dermatological manifestations, management, and care in RASopathies
Maria Inês Kavamura, Chiara Leoni, Giovanni Neri
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2022) Vol. 190, Iss. 4, pp. 452-458
Closed Access | Times Cited: 7
Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2
Maja Šolman, Daniëlle T.J. Woutersen, Jeroen den Hertog
Frontiers in Cell and Developmental Biology (2022) Vol. 10
Open Access | Times Cited: 6
The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome
Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, et al.
Genes (2023) Vol. 14, Iss. 7, pp. 1338-1338
Open Access | Times Cited: 3
LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
Alexandra Viktoria Busley, Óscar Gutiérrez‐Gutiérrez, Elke Hammer, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
Anna Papadopoulou, Evangelia Bountouvi
Frontiers in Endocrinology (2023) Vol. 14
Open Access | Times Cited: 2
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation
Roberta Onesimo, Angelica Bibiana Delogu, Rita Blandino, et al.
American Journal of Medical Genetics Part A (2022) Vol. 188, Iss. 7, pp. 2184-2186
Closed Access | Times Cited: 4
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype
Angelica Bibiana Delogu, Rita Blandino, Chiara Leoni, et al.
Pediatric Research (2022) Vol. 93, Iss. 4, pp. 752-754
Closed Access | Times Cited: 3
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