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| 34331184 | Unusual phenotypes in patients with a pathogenic germline variant in DICER1. | Fam Cancer | 2023 |
| 36108644 | Impact of the COVID-19 Pandemic Regulations on the Health Status and Medical Care of Children with Trisomy 21. | Klinische Padiatrie | 2023 |
| 36100962 | Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy. | Brain | 2023 |
| 36261507 | Clinical Outcome and Quality of Life of Multimodal Treatment of Extracranial Arteriovenous Malformations: The APOLLON Study Protocol. | | 2023 |
| 37344639 | Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues. | Commun Biol | 2023 |
| 37280688 | Improvement of synaptic plasticity and cognitive function in RASopathies-a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS). | | 2023 |
| 36707059 | Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases. | | 2023 |
| 36755093 | Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. | Nature | 2023 |
| 36944721 | Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancer. | | 2023 |
| 37065762 | Syndromic forms of congenital hyperinsulinism. | | 2023 |
| 36682911 | X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant. | | 2023 |
| 35348676 | Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. | Hum Mol Genet | 2022 |
| 35524774 | Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study. | Genet Med | 2022 |
| 35641267 | Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the <i>NF1</i> Gene in the Osseous Lesion. | Anticancer Res | 2022 |
| 36339418 | Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism. | Front Endocrinol (Lausanne) | 2022 |
| 36274379 | Fatal course of a benign mediastinal lipoblastoma in a 20-year-old woman. | Pathology Research and Practice | 2022 |
| 35490553 | Gut microbial similarity in twins is driven by shared environment and aging. | eBioMedicine | 2022 |
| 36330903 | Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome. | European Journal of Medical Genetics | 2022 |
| 36330334 | Increased osteoclastogenesis contributes to bone loss in the Costello syndrome mouse model. | Frontiers in Cell and Developmental Biology | 2022 |
| 35983034 | T cell-specific constitutive active SHP2 enhances T cell memory formation and reduces T cell activation. | Frontiers in Immunology | 2022 |
| 35790048 | WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. | Hum Mutat | 2022 |
| 35475025 | Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus. | J Endocr Soc | 2022 |
| 35600592 | A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome. | Front Endocrinol (Lausanne) | 2022 |
| 35351629 | Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations. | Eur J Med Genet | 2022 |
| 36428239 | Clinical overview on RASopathies. | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2022 |
| 36448195 | Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. | Am J Med Genet C Semin Med Genet | 2022 |
| 36116039 | Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome. | Human Mutation | 2022 |
| 36686494 | Editorial: Endocrine aspects of Noonan syndrome and related syndromes. | | 2022 |
| 36456122 | Unusual Findings in a Patient With Carney Complex due to a Novel Mutation. | Anticancer Research | 2022 |
| 35266292 | The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. | Am J Med Genet A | 2022 |
| 34972725 | Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey. | In Vivo | 2022 |
| 35246453 | Noonan syndrome: improving recognition and diagnosis. | Archives of Disease in Childhood | 2022 |
| 35245205 | Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status. | Endocrine Connections | 2022 |
| 34896604 | Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey. | European Journal of Medical Genetics | 2022 |
| 35163705 | Profiling of the Bacterial Microbiota along the Murine Alimentary Tract. | International Journal of Molecular Sciences | 2022 |
| 34757053 | European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe. | European Journal of Medical Genetics | 2022 |
| 34757052 | Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists. | European Journal of Medical Genetics | 2022 |
| 34619372 | Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis. | Gene Expression Patterns | 2021 |
| 33593823 | Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat Syndrome. | J Am Soc Nephrol | 2021 |
| 33910856 | Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey. | In Vivo | 2021 |
| 34114335 | Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations. | Am J Med Genet A | 2021 |
| 33622887 | <i>KRAS</i> Mutation in an Implant-associated Peripheral Giant Cell Granuloma of the Jaw: Implications of Genetic Analysis of the Lesion for Treatment Concept and Surveillance. | In Vivo | 2021 |
| 34254124 | Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos. | Hum Mol Genet | 2021 |
| 34184824 | Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1. | Am J Med Genet A | 2021 |
| 33919815 | Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria. | Cancers (Basel) | 2021 |
| 33547677 | Estimated Prevalence of Harmful Alcohol Consumption in Pregnant and Nonpregnant Women in Saxony-Anhalt (NorthEast Germany) Using Biomarkers. | Alcoholism: Clinical and Experimental Research | 2021 |
| 33038106 | Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. | Clinical Dysmorphology | 2021 |
| 33082526 | The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. | European Journal of Human Genetics | 2021 |
| 33283961 | Aplasia cutis congenita in a CDC42-related developmental phenotype. | American Journal of Medical Genetics, Part A | 2021 |
| 32788663 | Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. | Eur J Hum Genet | 2021 |