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Erika K. S. M. Leenders

Observed names: E.K.S.M. Leenders, Erika K. S. M Leenders, Erika K.S.M. Leenders, Erika KSM Leenders, Erika Leenders
ORCID: 0000-0001-7311-6862
Observed ORCID: 0000-0001-7311-6862
OpenAlex ID: A5035218902
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
2021 · Dmitrijs Rots, Eric Chater-Diehl, et al. · The American Journal of Human Genetics · 73
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Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review
2021 · Julia Sleutjes, Lotte Kleimeier, et al. · Molecular Syndromology · 48
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
2021 · Meena Balasubramanian, Alexander J. M. Dingemans, et al. · European Journal of Human Genetics · 39
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Low- versus High-Dose and Early versus Late Parenteral Amino-Acid Administration in Very-Low-Birth-Weight Infants: A Systematic Review and Meta-Analysis
2017 · Erika K.S.M. Leenders, Marita de Waard, et al. · Neonatology · 38
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
2020 · D.L. Polla, E.J. Bhoj, et al. · Genetics in Medicine · 37
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TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
2021 · Aafke Engwerda, Erika K. S. M. Leenders, et al. · European Journal of Human Genetics · 31
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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
2020 · Christina Lissewski, Valérie Chune, et al. · European Journal of Human Genetics · 31
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Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants
2022 · Ellen Wingbermühle, Renée L. Roelofs, et al. · Journal of Clinical Medicine · 28
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Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
2018 · Erika K. S. M. Leenders, Harm Westdorp, et al. · European Journal of Human Genetics · 27
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Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study
2022 · Jessie W. Swarts, Lotte E. R. Kleimeier, et al. · American Journal of Medical Genetics Part A · 25
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Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy
2022 · Lotte E. R. Kleimeier, Caroline van Schaik, et al. · Journal of Clinical Medicine · 25
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Feeding Problems in Patients with Noonan Syndrome: A Narrative Review
2022 · Dagmar K. Tiemens, Leenke van Haaften, et al. · Journal of Clinical Medicine · 15
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Young children with Noonan syndrome: evaluation of feeding problems
2020 · Jos M. T. Draaisma, Joris Drossaers, et al. · European Journal of Pediatrics · 14
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The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
2023 · Dagmar K. Tiemens, Lotte Kleimeier, et al. · Orphanet Journal of Rare Diseases · 13
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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
2022 · Elise A. Ferreira, Annemarijne R.J. Veenvliet, et al. · Genetics in Medicine · 12
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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
2022 · Anne Hebert, Annet Simons, et al. · eLife · 12
Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome
2024 · Erika K. S. M. Leenders, Lotte E. R. Kleimeier, et al. · Clinical Case Reports · 10
Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders
2023 · Fieke Draaisma, Corrie E. Erasmus, et al. · European Journal of Pediatrics · 9
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The added value of the electrocardiogram in Noonan syndrome
2021 · Eefke Vos, Erika Leenders, et al. · Cardiology in the Young · 9
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Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders
2025 · Erika K. S. M. Leenders, Vera C. van den Brink, et al. · International Journal of Molecular Sciences · 6
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study
2024 · Fieke Draaisma, Erika K. S. M. Leenders, et al. · American Journal of Medical Genetics Part A · 6
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Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review
2021 · Dagmar K. Tiemens, Jacqueline Nugteren, et al. · Orphanet Journal of Rare Diseases · 6
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Molecular targeted treatment in infants with central conducting lymphatic anomalies
2025 · Vera C. van den Brink, Lotte E. R. Kleimeier, et al. · European Journal of Pediatrics · 2
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Differentiating primary sarcomeric hypertrophic cardiomyopathy from Noonan syndrome: can the electrocardiogram be of use?
2023 · Robert W. L. Hauptmeijer, Lea Lippert, et al. · Cardiology in the Young · 2
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Author response: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
2022 · Anne Hebert, Annet Simons, et al. · 1
Works count: 27
Citation count: 518
H-index: 13
I10-index: 17
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