Study of NSD2 using a dTAG system reveals their molecular mechanism and oncogenic implications in t(4;14) multiple myeloma.

Circulating microRNAs as biomarkers in pediatric epilepsy: A longitudinal cohort study.

Epilepsy in Wolf-Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature.

The Whsc2/NelfA -dependent transcription complex is required for postnatal cardiac development and heart function.

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

Observed total and live birth prevalence of Wolf-Hirschhorn syndrome in England 2015-2020.

Proximal 4p deletion syndrome in a woman with intellectual disability: a case report and literature review.

Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies.

Wolf-Hirschhorn syndrome with growth hormone deficiency: long-term response to RhGH therapy.

Generation of human induced pluripotent stem cell lines derived from Wolf-Hirschhorn syndrome patients with chromosomal 4p deletion.

Elevated levels of Letm1 drives mitochondrial dysfunction and cardiomyocyte stress-mediated apoptosis in cultured cardiomyocytes.

Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn Syndrome.

Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution.

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study.

Reconsidering Social-Behavioral Phenotypes in Wolf-Hirschhorn Syndrome: Presentation of Two Cases Diagnosed with Autism Spectrum Disorder.

Clinical features, behaviour and language in Wolf-Hirschhorn syndrome.

Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-).

Effectiveness and Safety of High-Dose Oral Phenobarbital in Children With Recurrent and Treatment-Refractory Seizures.

Family well-being in families with children and young people with Wolf-Hirschhorn Syndrome.

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

The apo LETM1 F-EF-hand adopts a closed conformation that underlies a multi-modal sensory role in mitochondria.

A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Hypoglossal Nerve Stimulation Outcomes in Pediatric Trisomy 21 Patients with Overweight or Obesity.

A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.

Successful Anesthetic Management of a Pediatric Patient With Wolf-Hirschhorn Syndrome Undergoing Strabismus Surgery: A Case Report.

Histone methyltransferase WHSC1 cooperate with YBX1 promote glioblastoma progression via regulating PLK1 expression.

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.

[Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome].

Dissecting structure and function of the monovalent cation/H+ antiporters Mdm38 and Ylh47 in Saccharomyces cerevisiae.

Human Genetics of Hypoplastic Left Heart Syndrome.

Human Genetics of Ventricular Septal Defect.

CircWHSC1 (CircNSD2): A Novel Circular RNA in Multiple Cancers.

Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report.

Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.

Circ-FOXO3 inhibits triple-negative breast cancer growth and metastasis via regulating WHSC1-H3K36me2-Zeb2 axis.

Wolf-Hirschhorn syndrome candidate 1 (Whsc1) methyltransferase signals via a Pitx2-miR-23/24 axis to effect tooth development.

WHSC1L1-mediated epigenetic downregulation of VMP1 participates in herpes simplex virus 1 infection-induced mitophagy impairment and neuroinflammation.

Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33.

Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager.

circWHSC1: A circular RNA piece in the human cancer puzzle.

Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review.

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome.

Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.

Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice.

Efficacy of Antiseizure Medications in Wolf-Hirschhorn Syndrome.

WHSC1 is involved in DNA damage, cellular senescence and immune response in hepatocellular carcinoma progression.

NSD3, a member of nuclear receptor-binding SET domain family, is a potential prognostic biomarker for pancreatic cancer.

Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.

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.

Familial 4p Interstitial Deletion Provides New Insights and Candidate Genes Underlying This Rare Condition.

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.

Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.

Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.

Tumor-augmenting Effect of Histone Methyltransferase WHSC1 on Colorectal Cancer Via Epigenetic Upregulation of TACC3 and PI3K/Akt Activation.

Gene mutations and chromosomal abnormalities in syndromes with tooth agenesis.

The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Gastrostomy and congenital anomalies: a European population-based study.

[Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.].

The cation exchanger Letm1, circadian rhythms, and NAD(H) levels interconnect in diurnal zebrafish.

Emerging role of LETM1/GRP78 axis in lung cancer.

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.

Prenatal sonographic findings in confirmed cases of 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.

Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome.

CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2 axis.

Glucocorticoid receptor gene mutations confer glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia.

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.

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

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.

50 Years Ago in TheJournalofPediatrics: Wolf-Hirschorn Versus Cri-du-Chat Syndrome.

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.

A practical approach to dental care for patients with Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome candidate 1 facilitates alveolar macrophage pyroptosis in sepsis-induced acute lung injury through NEK7-mediated NLRP3 inflammasome activation.

[Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome].

High WHSC1L1 Expression Reduces Survival Rates in Operated Breast Cancer Patients with Decreased CD8+ T Cells: Machine Learning Approach.

Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature.

The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.

Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes.

LETM1: A Single Entity With Diverse Impact on Mitochondrial Metabolism and Cellular Signaling.

Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.

Alternatively Splicing Interactomes Identify Novel Isoform-Specific Partners for NSD2.

Corrigendum: Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis.

Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene.

Positional Central Sleep Apnea in a Child with Cervical Instability.

Parent-authored memoirs: Lessons in the practice of narrative medicine.

An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome.

WHSC1/NSD2 regulates immune infiltration in prostate cancer.

The leucine zipper EF-hand containing transmembrane protein-1 EF-hand is a tripartite calcium, temperature, and pH sensor.

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.

CircWHSC1 serves as an oncogene to promote hepatocellular carcinoma progression.

Anesthetic considerations for an adult with Wolf-Hirschhorn syndrome - A case report.

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.

Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.

Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.

Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.

Genetic disease and intellectual disability as contraindications to transplant listing in the United States: A survey of heart, kidney, liver, and lung transplant programs.

Wolf-Hirschhorn syndrome: A case series from India.

Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.

WHSC1 Promotes Cell Proliferation, Migration, and Invasion in Hepatocellular Carcinoma by Activating mTORC1 Signaling.

Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China.

Public Appeals Challenging Criteria for Pediatric Organ Transplantation.

Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing.

[Identification of a critical region on chromosome 4p16.3 for Wolf-Hirschhorn syndrome-associated fetal growth retardation].

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.

H3K36 dimethylation by MMSET promotes classical non-homologous end-joining at unprotected telomeres.

Do microdeletions lead to immune deficiency?

Olfactory hypoplasia and oculomotor nerve hypoplasia in a patient with Wolf-Hirschhorn syndrome.

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.

WHSC1 promotes wnt/β-catenin signaling in a FoxM1-dependent manner facilitating proliferation, invasion and epithelial-mesenchymal transition in breast cancer.

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay.

Acute NelfA knockdown restricts compensatory gene expression and precipitates ventricular dysfunction during cardiac hypertrophy.

Hip displacement in Wolf-Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies.

Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report.

50 Years Ago in TheJournal ofPediatrics: Human Chromosomal Deletion: Two Patients with the 4p-Syndrome.

Melatonin reverses the oxidative stress and mitochondrial dysfunction caused by LETM1 silencing.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature.

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.

WHSC1 acts as a prognostic indicator and functions as an oncogene in cervical cancer.

[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays].

A Scalable Platform for Producing Recombinant Nucleosomes with Codified Histone Methyltransferase Substrate Preferences.

[Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation].

The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf-Hirschhorn Syndrome.

De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome.

LETM1: Essential for Mitochondrial Biology and Cation Homeostasis?

The histone methyltransferase WHSC1 is regulated by EZH2 and is important for ovarian clear cell carcinoma cell proliferation.

Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis.

LETM1 is required for mitochondrial homeostasis and cellular viability (Review).

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.

Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease.

Epigenetic Deregulation in Human Primary Immunodeficiencies.

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells.

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.

Small 4p16.3 deletions: Three additional patients and review of the literature.

Recombinant chromosome 4 in two fetuses - case report and literature review.

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children.

LETM1 couples mitochondrial DNA metabolism and nutrient preference.

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.

Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome.

Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.

A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.

Detecting TF-miRNA-gene network based modules for 5hmC and 5mC brain samples: a intra- and inter-species case-study between human and rhesus.

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.

Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report.

[Prenatal genetic analysis of a fetus with Wolf-Hirschhorn syndrome and Edward syndrome].

[Application of chromosomal microarray analysis for fetuses with ventricular septal defects].

[Wolf-Hirschhorn syndrome: just a citation omission? Reply].

[Wolf-Hirschhorn syndrome: just a citation omission?].

A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Hepatoblastoma and Wolf-Hirschhorn syndrome: Coincidence or a new feature of a rare disease?

Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.

Report of an unsual case of anophthalmia and craniofacial cleft in a newborn with Toxoplasma gondii congenital infection.

Wolf-Hirschhorn Syndrome Candidate 1 (whsc1) Functions as a Tumor Suppressor by Governing Cell Differentiation.

[Clinical Application of Chromosomal Microarray Analysis in Karyotyping with Uncertain Genomic Rearrangement].

Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

[Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review].

De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.

Treatment of intractable seizure in Wolf-Hirschhorn syndrome with bromide.

Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome.

Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome.

Epigenetic activation of WHSC1 functions as an oncogene and is associated with poor prognosis in cervical cancer.

Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression.

[Prenatal diagnosis of a case with 46,XX,del(4),dup(21)].

Sabotaging of the oxidative stress response by an oncogenic noncoding RNA.

A Conversation with Kurt and Rochelle Hirschhorn.

A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management.

Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome.

Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome.

Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy.

Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration.

[The Wolf-Hirschhorn Syndrome].

Airway Management in a Patient with Wolf-Hirschhorn Syndrome.

Leucine zipper-EF-hand containing transmembrane protein 1 (LETM1) forms a Ca2+/H+ antiporter.

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

Wolf-Hirschhorn (4p-) syndrome with West syndrome.

A genotype-phenotype correlation study reveals that a non-coding RNA might be associated with cardiovascular anomalies in fetuses with WHS.

[A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array].

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.

[Prenatal diagnosis of chromosome abnormalities and nine microdeletion syndromes using both traditional karyotyping and BoBs].

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization.

Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country.