Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.

Case Report: Somatic NF2 mutation in a vestibular schwannoma arising in a patient with neurofibromatosis type 1.

IDH2 Clonal Hematopoiesis and IKAROS Loss Cooperate in a B-ALL Subtype after Lenalidomide Therapy for Multiple Myeloma.

Alanine-scanning mutagenesis library of MreB reveals distinct roles for regulating cell shape and viability.

Excessive intraoperative hemorrhage during orthognathic surgery in a patient with neurofibromatosis type 1: a case report and literature review.

Precision restoration of complex cervical instability and decompression for neurofibromatosis type I: a case report using patient-specific 3D-printed templates.

Isolated Anterior Mesenteric Neurofibroma: A Rare Manifestation of Neurofibromatosis Type 1.

Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.

Duodenal ampullary neuroendocrine tumor, high risk gastrointestinal stromal tumor, and gastric leiomyoma in a patient with neurofibromatosis type 1: a rare case report and literature review.

Unusual Presentation of Plexiform Neurofibroma Embedded with Large Comedones: A Case Report.

Bilateral juvenile-onset cataracts associated with GCNT2 variants.

High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.

Case report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder.

Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico.

AlphaGenome-enabled analysis of non-coding regulatory variants underlying RHD expression with wet-lab validation.

Laryngeal neurofibroma: case report and review of the literature.

A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the GALNT3 Gene Causing Hyperphosphatemic Tumoral Calcinosis.

Diagnostic yield of genome sequencing in children with progressive movement disorders.

Altered Neuronal Architecture in Induced Pluripotent Stem Cells-Derived Neurons from Patients with Schizophrenia Harboring CNTNAP2 Deletion.

Mutations and structural variants arising during double-strand break repair.

Internal carotid artery sympathetic plexus neurofibroma - A case report.

[Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I].

Caffeine May Delay the Radiation-Induced Nucleoshuttling of the ATM Kinase and Reduce the Recognition of the DNA Double-Strand Breaks in Human Cells.

Metachronous Pheochromocytoma and Cholangiocarcinoma in a patient with Neurofibromatosis type 1: a case report.

Inhibition of Cxcr4 chemokine receptor signaling improves habituation learning in a zebrafish model of neurofibromatosis.

Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.

Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6.

Asthma-mediated control of optic glioma growth via T cell-microglia interactions: A mathematical model.

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.

Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series.

NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction.

Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation.

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series.

Concurrent Juvenile Myelomonocytic Leukemia and Gliomas in Patients With Neurofibromatosis Type 1.

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children.

A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

LEF1 intragenic deletions: is Wnt'er coming for T-ALL?

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional study.

Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.

Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1.

Genetics and pathophysiology of Duchenne muscular dystrophy.

Neurofibromatosis Type 1: Genetic Mechanisms and Advances in Therapeutic Innovation.

Challenges and Progress for Treatment of Malignant Peripheral Nerve Sheath Tumors in the Context of Recent Successes for Sarcoma Therapy.

The Complete Plastome of 'Mejhoul' Date Palm: Genomic Markers and Varietal Identification.

Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Exploring Optic Glioma and Type 1 Neurofibromatosis: A Literature Review of Case Reports.

Coexistence of ulcerative colitis and neurofibromatosis type 1: a case report and literature review.

Bibliometric Analysis of Global Research on Cafe-Au-Lait Macules from 2000 to 2025: Development, Collaboration Patterns, and Emerging Trends.

Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia.

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.

Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

[Identification of two novel NF1 mutations and genotype-phenotype analysis in patients with neurofibromatosis type 1].

In Vitro Mouse Lymphoma Cell (L5178Y Tk+/- 3.7.2C) Forward Mutation Assay.

A novel multion in a Chinese family with neurofibromatosis type 1: A case report.

Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations.

A novel germline NF1 splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response.

Malignant peripheral nerve sheath tumors in schwannomatosis: systematic review and meta-analysis.

Malignant peripheral nerve sheath tumors in schwannomatosis: a case series.

Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia.

Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing.

Malignant Phyllodes Tumor of the Breast in a Young Adult With Neurofibromatosis Type 1.

Occipital Bone Defect With Meningoencephalocele and Plexiform Neurofibroma in Neurofibromatosis-1.

Case Report: Trametinib in the treatment of patients with metastatic lung adenocarcinoma harboring NF1 mutation: a case series and literature review.

A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.

Cutaneous Neufibroma in the Absence of Classical NF1 Features: A Case Report and Literature Review.

Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy.

"To have children or not?" Between desire, responsibility, luck, and guilt: reproductive decision-making in individuals with neurofibromatosis type 1.

Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome.

Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.

Pharmacogenomic Synthetic Lethal Screens Reveal Hidden Vulnerabilities and New Therapeutic Approaches for Treatment of NF1-Associated Tumors.

Juvenile xanthogranuloma as a potential early manifestation of neurofibromatosis type 1: A case report.

Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1).

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Defective but tumorigenic: the evolutionary and functional roles of mutated oncoviruses.

An Autopsy Case of Neurofibromatosis Type 1 Mutation Detected in a Duodenal Lesion of Malignant Melanoma: A Case Report.

Therapeutic Advances in Neurofibromatosis Type 1: A Focus on Selumetinib.

A Novel 1259 bp Intragenic Deletion in the GJB2 Gene in a Mexican Family with Congenital Profound Hearing Loss.

Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.

Prospective characterization of germline variants in patients with gliomas and glioneuronal tumors.

A Rare Case: Composite Paraganglioma-Ganglioneuroma in a Neurofibromatosis 1 Patient and Literature Review.

Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene.

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.

Moyamoya Syndrome, Epilepsy and Hydrocephalus in Neurofibromatosis Type 1.

LEF1 intragenic deletion induces a dominant-negative isoform and unveils a Wnt/β-catenin vulnerability in T-ALL.

Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2.

A Loss-of-Function Variant Causing Primary Autosomal Recessive Hypertrophic Osteoarthropathy.

Colorectal cancer in a 13-year-old with constitutional mismatch repair deficiency and MUTYH heterozygosity.

Characterizing neurofibromin 1-altered breast cancer through genomic, functional, and clinical analyses.

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Zebrafish neurofibromatosis type 1 mutants show disruption of sleep but not of circadian rhythms.

Serum miRNAs as biomarkers in Neurofibromatosis 1: New promising findings.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Molecular Basis of Fracture Pseudarthrosis Associated with Neurofibromatosis Type 1.

Increased Prevalence of Psychiatric Disorders in Children with RASopathies: Comparing NF1, Noonan Syndrome Spectrum Disorder, and the General Population.

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2.

Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of a de novo c.6640dupA shift mutation and a splice variant with an epilepsy phenotype.

Spontaneous peripheral artery rupture in patients with neurofibromatosis type 1.

Coupling chromosome organization to genome segregation in Archaea.

A Fatal Case of Infection-Induced Neurofibromatosis Type 1 in an Adult.

Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism-Not to Be Confused With NF1.

New models for MPNST: establishment and comprehensive characterization of two tumor cell lines.

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients.

β-Thalassemia Trait Caused by a SUPT5H Defect: First Report of an Intragenic Deletion.

High-Throughput Targeted Drug Screening for NF1-associated High-Grade Gliomas with ATRX Deficiency.

Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis.

Rare variants modulating phenotype in NF1 carriers.

An Isoform-Specific RUNX1C-BTG2 Axis Governs AML Quiescence and Chemoresistance.

Malignant peripheral nerve sheath tumor in early childhood: a case report of a diagnostic challenge.

Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.

Effective treatment of non-fusion RET intragenic deletion lung adenocarcinoma with pralsetinib: a case report.

A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/- mice.

A transcriptomic, proteomic, and functional genetic atlas dissects neurofibromin function in the peripheral nervous system.

[A clinical case of type 1 neurofibromatosis associated with a rare genotype].

Phase Determination and Demonstration of Parental Mosaicism of Intragenic PRKN Deletions Initially Identified by Chromosomal Microarray Analysis.

[Analysis of clinical characteristics and NF1 gene variants in a child with Neurofibroma-Noonan syndrome].

Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report.

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Inhibition of Cxcr4 chemokine receptor signaling improves habituation learning and increases cAMP-PKA signaling in a zebrafish model of Neurofibromatosis type 1.

Neurofibromatosis Type 1: Clinical and Imaging Perspectives From a Pediatric Case.

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene.

Rare Copy Number Variants Intersecting Parkinson's-associated Genes in a Cohort of children With Autism Spectrum Disorders.

Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.

Irritability in children with RASopathies, insights into emotional dysregulation and social impairment.

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long-Read Genome Sequencing.

The Role of Artificial Intelligence in Identifying NF1 Gene Variants and Improving Diagnosis.

Recent Advancement of Neurofibromatosis Type 1: A Narrative Review.

Rapid Malignant Transformation of a Biopsy Proven Sporadic Soft Tissue Schwannoma to Spindle Cell MPNST With TP53 Mutation as an Early Event.

Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS.

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.

Increased insulin-like growth factor-1 concentrations in paediatric suprasellar low-grade glioma: an international multicentre study.

Neurofibromatosis Type 1 : A General Review.

Understanding speech and language in KIF1A-associated neurological disorder.

[Genetic analysis of a fetus pedigree affected with Thyroid dyshormonogenesis type 5 combined with familial Neurofibromatosis type 1].

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

RASopathy syndromes: Understanding signaling pathway disorders leading to tumorigenesis.

Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Glioblastoma in NF1: A Unique Entity-A Literature Review Focusing on Surgical Implication and Our Experience.

Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene.

A phase 2 PBTC study of selumetinib for recurrent/progressive pediatric low-grade glioma: Strata 2, 5, and 6 with long-term outcomes on strata 1, 3, and 4.

Unveiling the complexity of neurofibromatosis type 1: Innovations in genetic understanding and clinical management. A narrative review.

Lifelong Management of Neurofibromatosis 1 Patients.

Small Intestinal Neurofibroma With Atypical 17q11.2 Microdeletions: A Rare Cause of Abdominal Distension.

The dose-, LET-, and gene-dependent patterns of intragenic DNA changes underlying recessive visible mutations at the autosomal gene cinnabar of Drosophila melanogaster.

From benign neurofibromas to malignant peripheral nerve sheath tumors (MPNST): a gaming among multiple factors.

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1.

Emerging mechanism and therapeutic potential of neurofibromatosis type 1-related nerve system tumor: Advancing insights into tumor development.

Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

The CoREST complex is a therapeutic vulnerability in malignant peripheral nerve sheath tumors.

Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force.

Intragenic deletions from whole genome sequencing of 1054 suicide deaths.

Gastric gastrointestinal stromal tumor in a patient with neurofibromatosis type I presenting with anemia: A case report.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening.

Lysine-specific demethylase 1a is obligatory for gene regulation during kidney development.

Neurofibromatosis Type 1 (NF1)-Related Ocular Signs: New Insights on Their Prevalence, Incidence, and Genotype-Phenotype Correlation in NF1 Children.

A rare unifocal gastric gastrointestinal stromal tumor in a young NF1 patient: A case report.

A Rare Coexisting Presentation of Autosomal Dominant Polycystic Kidney Disease With Rapid Deterioration of Renal Function and Neurofibromatosis Type 1.

ABCC6 gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks.

Clinical description and development of a prognostic score for neurofibromatosis type 1 (NF1)-associated GISTs: a retrospective study from the NETSARC.

The nature and pathological impact of the c.1748A > G variant of the neurofibromin 1 gene.

Molecular insights into genodermatoses: Genetic findings from 43 patients.

Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1.

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns.

Neurofibromin Deficiency Alters the Patterning and Prioritization of Motor Behaviors in a State-Dependent Manner.

A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.

Homozygous Intragenic Deletion in WDR62 in Siblings with Primary Microcephaly.

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Interactions of N- and C-terminal parts of Ana1 permitting centriole duplication but not elongation.

Adeno-associated viral vector targeted evolution for neurofibromatosis gene delivery.

[Plastic surgical treatment of neurofibromatosis type 1].

Hepatoblastoma in a patient with neurofibromatosis type 1: A case report.

Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.

Allosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Neurofibromatosis with diffuse intestinal ganglioneuromatosis: a case report.

Jaffe-Campanacci Syndrome: A Case Report and Review of the Literature.

Multiple small bowel GIST as GI manifestation of neurofibromatosis type I: A case report.

Loss of NF1 Accelerates Uveal and Intradermal Melanoma Tumorigenesis, and Oncogenic GNAQ Transforms Schwann Cells.

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Hydroxychloroquine prevents resistance and potentiates the antitumor effect of SHP2 inhibition in NF1-associated malignant peripheral nerve sheath tumors.

Classification of schwannomas and the new naming convention for "neurofibromatosis-2": Genetic updates and international consensus recommendation.

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.

Irritability in Children with Rasopathies, Insights into Emotional Dysregulation and Social Skills Impairments.

Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges.

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.