• 50 Years Ago in TheJournal ofPediatrics: Human Chromosomal Deletion: Two Patients with the 4p-Syndrome
• 50 Years Ago in TheJournalofPediatrics: Wolf-Hirschorn Versus Cri-du-Chat Syndrome
• A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma
• A practical approach to dental care for patients with Wolf-Hirschhorn syndrome
• Activating transcription factor 2 promotes the progression of hepatocellular carcinoma by inducing the activation of the WHSC1-mediated TOP2A/PI3K/AKT axis
• Acute NelfA knockdown restricts compensatory gene expression and precipitates ventricular dysfunction during cardiac hypertrophy
• Alternatively Splicing Interactomes Identify Novel Isoform-Specific Partners for NSD2
• An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome
• Anesthetic considerations for an adult with Wolf-Hirschhorn syndrome - A case report
• BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes
• Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
• Case report: A <em>de novo</em> NSD2 truncating variant in a child with Rauch-Steindl syndrome
• Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome
• Circ-FOXO3 inhibits triple-negative breast cancer growth and metastasis via regulating WHSC1-H3K36me2-Zeb2 axis
• CircWHSC1 (CircNSD2): A Novel Circular RNA in Multiple Cancers
• CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2 axis
• CircWHSC1 serves as an oncogene to promote hepatocellular carcinoma progression
• circWHSC1: A circular RNA piece in the human cancer puzzle
• Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review
• Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature
• Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants
• Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers
• Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al
• Corrigendum: Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in <em>Xenopus laevis</em>
• Corrigendum: Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis
• De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype
• Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report
• Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing
• Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene
• Dissecting structure and function of the monovalent cation/H⁺ antiporters Mdm38 and Ylh47 in <em>Saccharomyces cerevisiae</em>
• Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome
• DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
• Do microdeletions lead to immune deficiency?
• Efficacy of Antiseizure Medications in Wolf-Hirschhorn Syndrome
• Emerging role of LETM1/GRP78 axis in lung cancer
• Epigenetics
• Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses
• Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
• Familial 4p Interstitial Deletion Provides New Insights and Candidate Genes Underlying This Rare Condition
• Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia
• Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
• From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature
• Gastrostomy and congenital anomalies: a European population-based study
• Gene mutations and chromosomal abnormalities in syndromes with tooth agenesis
• Genetic disease and intellectual disability as contraindications to transplant listing in the United States: A survey of heart, kidney, liver, and lung transplant programs
• Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
• Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review
• Glucocorticoid receptor gene mutations confer glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia
• H3K36 dimethylation by MMSET promotes classical non-homologous end-joining at unprotected telomeres
• High WHSC1L1 Expression Reduces Survival Rates in Operated Breast Cancer Patients with Decreased CD8+ T Cells: Machine Learning Approach
• Hip displacement in Wolf-Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies
• Human Genetics of Hypoplastic Left Heart Syndrome
• Human Genetics of Ventricular Septal Defect
• Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice
• Identification of a critical region on chromosome 4p16.3 for Wolf-Hirschhorn syndrome-associated fetal growth retardation
• Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease
• International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
• LETM1: A Single Entity With Diverse Impact on Mitochondrial Metabolism and Cellular Signaling
• Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
• Melatonin reverses the oxidative stress and mitochondrial dysfunction caused by LETM1 silencing
• Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals
• Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study
• Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
• Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report
• NSD3, a member of nuclear receptor-binding SET domain family, is a potential prognostic biomarker for pancreatic cancer
• Olfactory hypoplasia and oculomotor nerve hypoplasia in a patient with Wolf-Hirschhorn syndrome
• Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
• Parent-authored memoirs: Lessons in the practice of narrative medicine
• Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins
• Positional Central Sleep Apnea in a Child with Cervical Instability
• Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33
• Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review
• Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China
• Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review
• Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome
• Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.
• Public Appeals Challenging Criteria for Pediatric Organ Transplantation
• Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature
• Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay
• Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome
• The cation exchanger Letm1, circadian rhythms, and NAD(H) levels interconnect in diurnal zebrafish
• The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
• The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology
• The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy
• The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
• The leucine zipper EF-hand containing transmembrane protein-1 EF-hand is a tripartite calcium, temperature, and pH sensor
• Tumor-augmenting Effect of Histone Methyltransferase WHSC1 on Colorectal Cancer Via Epigenetic Upregulation of TACC3 and PI3K/Akt Activation
• WHSC1 acts as a prognostic indicator and functions as an oncogene in cervical cancer
• WHSC1 is involved in DNA damage, cellular senescence and immune response in hepatocellular carcinoma progression
• WHSC1 Promotes Cell Proliferation, Migration, and Invasion in Hepatocellular Carcinoma by Activating mTORC1 Signaling
• WHSC1 promotes wnt/β-catenin signaling in a FoxM1-dependent manner facilitating proliferation, invasion and epithelial-mesenchymal transition in breast cancer
• WHSC1/NSD2 regulates immune infiltration in prostate cancer
• WHSC1L1-mediated epigenetic downregulation of VMP1 participates in herpes simplex virus 1 infection-induced mitophagy impairment and neuroinflammation
• Wolf-Hirschhorn syndrome candidate 1 (Whsc1) methyltransferase signals via a Pitx2-miR-23/24 axis to effect tooth development
• Wolf-Hirschhorn syndrome candidate 1 facilitates alveolar macrophage pyroptosis in sepsis-induced acute lung injury through NEK7-mediated NLRP3 inflammasome activation
• Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature
• Wolf-Hirschhorn syndrome: A case series from India
• Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
• Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly
• Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 pter) in a fetus with facial cleft and preaxial polydactyly