
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:
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, et al.
Genetics in Medicine (2018) Vol. 20, Iss. 10, pp. 1175-1185
Open Access | Times Cited: 186
Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, et al.
Genetics in Medicine (2018) Vol. 20, Iss. 10, pp. 1175-1185
Open Access | Times Cited: 186
Showing 26-50 of 186 citing articles:
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, et al.
Clinical Genetics (2019) Vol. 95, Iss. 6, pp. 693-703
Open Access | Times Cited: 50
Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, et al.
Clinical Genetics (2019) Vol. 95, Iss. 6, pp. 693-703
Open Access | Times Cited: 50
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy
Marialetizia Motta, Lena Sagi‐Dain, Oliver H.F. Krumbach, et al.
Human Molecular Genetics (2019) Vol. 29, Iss. 11, pp. 1772-1783
Closed Access | Times Cited: 43
Marialetizia Motta, Lena Sagi‐Dain, Oliver H.F. Krumbach, et al.
Human Molecular Genetics (2019) Vol. 29, Iss. 11, pp. 1772-1783
Closed Access | Times Cited: 43
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients
Xin Li, Ruen Yao, Xin Tan, et al.
Clinical Genetics (2019) Vol. 96, Iss. 4, pp. 290-299
Closed Access | Times Cited: 43
Xin Li, Ruen Yao, Xin Tan, et al.
Clinical Genetics (2019) Vol. 96, Iss. 4, pp. 290-299
Closed Access | Times Cited: 43
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
Souhrid Mukherjee, Joy D. Cogan, John H. Newman, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 10, pp. 1946-1963
Open Access | Times Cited: 36
Souhrid Mukherjee, Joy D. Cogan, John H. Newman, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 10, pp. 1946-1963
Open Access | Times Cited: 36
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
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
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort
Hao Chen, Xin Li, Xiaoliang Liu, et al.
Orphanet Journal of Rare Diseases (2019) Vol. 14, Iss. 1
Open Access | Times Cited: 40
Hao Chen, Xin Li, Xiaoliang Liu, et al.
Orphanet Journal of Rare Diseases (2019) Vol. 14, Iss. 1
Open Access | Times Cited: 40
Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants
Ellen Wingbermühle, Renée L. Roelofs, Wouter Oomens, et al.
Journal of Clinical Medicine (2022) Vol. 11, Iss. 16, pp. 4735-4735
Open Access | Times Cited: 19
Ellen Wingbermühle, Renée L. Roelofs, Wouter Oomens, et al.
Journal of Clinical Medicine (2022) Vol. 11, Iss. 16, pp. 4735-4735
Open 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
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
Classification of schwannomas and the new naming convention for “neurofibromatosis-2”: Genetic updates and international consensus recommendation
Pranjal Rai, Girish Bathla, Neetu Soni, et al.
The Neuroradiology Journal (2025)
Open Access
Pranjal Rai, Girish Bathla, Neetu Soni, et al.
The Neuroradiology Journal (2025)
Open Access
[Growth and development patterns of Noonan syndrome and advances in the treatment of short stature].
Xin Li, Wen Tian, Biyun Feng, et al.
PubMed (2025) Vol. 27, Iss. 1, pp. 33-38
Closed Access
Xin Li, Wen Tian, Biyun Feng, et al.
PubMed (2025) Vol. 27, Iss. 1, pp. 33-38
Closed Access
The tumor suppressor LZTR1: Its expression, purification and characterization
Yifang Sun, Yuxuan Jiang, Meng Zhang, et al.
Protein Expression and Purification (2025), pp. 106716-106716
Closed Access
Yifang Sun, Yuxuan Jiang, Meng Zhang, et al.
Protein Expression and Purification (2025), pp. 106716-106716
Closed Access
Non-NF2-related schwannomatosis and rhabdoid tumor predisposition syndrome
Scott R. Plotkin, D. Gareth Evans, Jay S. Loeffler, et al.
Oxford University Press eBooks (2025), pp. 339-344
Closed Access
Scott R. Plotkin, D. Gareth Evans, Jay S. Loeffler, et al.
Oxford University Press eBooks (2025), pp. 339-344
Closed Access
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas
Hildegard Kehrer‐Sawatzki, Lan Kluwe, Reinhard E. Friedrich, et al.
Human Genetics (2018) Vol. 137, Iss. 6-7, pp. 543-552
Open Access | Times Cited: 38
Hildegard Kehrer‐Sawatzki, Lan Kluwe, Reinhard E. Friedrich, et al.
Human Genetics (2018) Vol. 137, Iss. 6-7, pp. 543-552
Open Access | Times Cited: 38
The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking
Raj Nayan Sewduth, Silvia Pandolfi, Mikhail Steklov, et al.
Circulation Research (2020) Vol. 126, Iss. 10, pp. 1379-1393
Open Access | Times Cited: 28
Raj Nayan Sewduth, Silvia Pandolfi, Mikhail Steklov, et al.
Circulation Research (2020) Vol. 126, Iss. 10, pp. 1379-1393
Open Access | Times Cited: 28
RNA-binding proteins of COSMIC importance in cancer
Peter S. Choi, Andrei Thomas‐Tikhonenko
Journal of Clinical Investigation (2021) Vol. 131, Iss. 18
Open Access | Times Cited: 26
Peter S. Choi, Andrei Thomas‐Tikhonenko
Journal of Clinical Investigation (2021) Vol. 131, Iss. 18
Open Access | Times Cited: 26
Loss-of-Function Mutations in TRAF7 and KLF4 Cooperatively Activate RAS-Like GTPase Signaling and Promote Meningioma Development
Paul Najm, Peihua Zhao, Mikhail Steklov, et al.
Cancer Research (2021) Vol. 81, Iss. 16, pp. 4218-4229
Open Access | Times Cited: 25
Paul Najm, Peihua Zhao, Mikhail Steklov, et al.
Cancer Research (2021) Vol. 81, Iss. 16, pp. 4218-4229
Open Access | Times Cited: 25
Cancer incidence and surveillance strategies in individuals withRASopathies
Gina M. Ney, Andrea M. Gross, Alicia A. Livinski, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2022) Vol. 190, Iss. 4, pp. 530-540
Open Access | Times Cited: 17
Gina M. Ney, Andrea M. Gross, Alicia A. Livinski, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2022) Vol. 190, Iss. 4, pp. 530-540
Open Access | Times Cited: 17
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development
Katherine A. Rauen, William E. Tidyman
Disease Models & Mechanisms (2024) Vol. 17, Iss. 6
Open Access | Times Cited: 3
Katherine A. Rauen, William E. Tidyman
Disease Models & Mechanisms (2024) Vol. 17, Iss. 6
Open Access | Times Cited: 3
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features
Vera Uliana, Enrico Ambrosini, Antonietta Taiani, et al.
Genes (2024) Vol. 15, Iss. 7, pp. 916-916
Open Access | Times Cited: 3
Vera Uliana, Enrico Ambrosini, Antonietta Taiani, et al.
Genes (2024) Vol. 15, Iss. 7, pp. 916-916
Open Access | Times Cited: 3
The pathogenesis of Noonan syndrome is modulated by NOC2L, a novel interactor of LZTR1 leading to impaired p53 signalling
Sumana Chatterjee, Miho Ishida, Débora Romeo Bertola, et al.
Research Square (Research Square) (2025)
Closed Access
Sumana Chatterjee, Miho Ishida, Débora Romeo Bertola, et al.
Research Square (Research Square) (2025)
Closed Access
Leveraging Machine Learning for Risk Assessment and Prediction of Inheriting Genetic Disorders
Medha Ramaswamy, S. Senthilnathan, Adithiyan Rajan Indira Saravanan, et al.
Deleted Journal (2025), pp. 100038-100038
Open Access
Medha Ramaswamy, S. Senthilnathan, Adithiyan Rajan Indira Saravanan, et al.
Deleted Journal (2025), pp. 100038-100038
Open Access
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review
G.J. Reynolds, Andrea Gazzin, Diana Carli, et al.
International Journal of Molecular Sciences (2025) Vol. 26, Iss. 8, pp. 3515-3515
Open Access
G.J. Reynolds, Andrea Gazzin, Diana Carli, et al.
International Journal of Molecular Sciences (2025) Vol. 26, Iss. 8, pp. 3515-3515
Open Access
Neurofibromatosis type 2 and related disorders
Dorothy Halliday, Allyson Parry, D. Gareth Evans
Current Opinion in Oncology (2019) Vol. 31, Iss. 6, pp. 562-567
Open Access | Times Cited: 28
Dorothy Halliday, Allyson Parry, D. Gareth Evans
Current Opinion in Oncology (2019) Vol. 31, Iss. 6, pp. 562-567
Open Access | Times Cited: 28
Providing more evidence on LZTR1 variants in Noonan syndrome patients
Josefina Chinton, Victoria Huckstadt, Mafalda Mucciolo, et al.
American Journal of Medical Genetics Part A (2019) Vol. 182, Iss. 2, pp. 409-414
Closed Access | Times Cited: 28
Josefina Chinton, Victoria Huckstadt, Mafalda Mucciolo, et al.
American Journal of Medical Genetics Part A (2019) Vol. 182, Iss. 2, pp. 409-414
Closed Access | Times Cited: 28