First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the Young.

Protective role of early Tnfsf15 upregulation in limiting glomerular injury and proteinuria in experimental Alport Syndrome.

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk.

Role of histone-lysine N-methyltransferase 2D (KMT2D) in MEK-ERK signaling-mediated epigenetic regulation: a phosphoproteomics perspective.

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings.

Differential Methylation Signatures Associated with PCOS- A Systematic Review and In-Silico Analysis.

From gut to gamete: how the microbiome influences fertility and preconception health.

Child Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant: A Ribosomopathy Masquerading as Cerebral Palsy.

The X-Age Project to construct a Chinese aging clock.

Alterations of Brain Structural and Functional Connectivity Networks and Its Correlations With Cognitive Function in Patients With Hypothalamic Syndrome Following Craniopharyngioma Resection.

Integrating Bibliometrics and Bioinformatics to Map Knowledge Structure, Trends, and Genetic Insights in Polycystic Ovary Syndrome and Tumors (2015-2024).

Case Report: First report of a Wilms tumor in an individual with Dias-Logan syndrome (BCL11A-related intellectual disability).

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Molecular characteristics by race and ethnicity of patients with high tumor mutational burden, high microsatellite instability, and mismatch repair deficiency: Real-world data from the multi-institutional Endometrial cancer Molecularly Targeted Therapy Consortium (ECMT2).

A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia.

Global trends in endometrial cancer and metabolic syndrome research: A bibliometric and visualization analysis.

Prenatal FBXL4-Associated Mitochondrial DNA Depletion Syndrome-13: A New Case and Review of the Literature.

Fruquintinib versus placebo in patients with refractory metastatic colorectal cancer: safety analysis of FRESCO-2.

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review.

Using cortical organoids to understand the pathogenesis of malformations of cortical development.

Post-COVID metabolic enzyme alterations in K18-hACE2 mice exacerbate alcohol-induced liver injury through transcriptional regulation.

Quantitative redox proteomics links thioredoxin to heavy ion resistance in Deinococcus radiodurans.

Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.

Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.

The gut microbiota: emerging biomarkers and potential treatments for infertility-related diseases.

Epcoritamab in relapsed/refractory large B-cell lymphoma: 2-year follow-up from the pivotal EPCORE NHL-1 trial.

[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Genetic variants for head size share genes and pathways with cancer.

Genome-wide association study (GWAS) identified PCOS susceptibility variants and replicates reported risk variants.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome.

Implantation and Decidualization in PCOS: Unraveling the Complexities of Pregnancy.

Clinical impact and in vitro characterization of ADNP variants in pediatric patients.

Metabolome implies increased fatty acid utilization and histone methylation in the follicles from hyperandrogenic PCOS women.

Genetic evidence for the causal association between type 1 diabetes and the risk of polycystic ovary syndrome.

Use of traditional and complementary medicine by ethnic Indian women living with polycystic ovary syndrome: a global survey.

A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.

Imaging of congenital and developmental cystic lesions of the brain: a narrative review.

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

A fresh start for IVM: capacitating the oocyte for development using pre-IVM.

A rare presentation of Maffucci syndrome: A case report and literature review.

Neurodevelopmental Outcomes of a Cohort of Children with Tuberous Sclerosis Complex with Epileptic Spasms.

Dermatological findings in Rubinstein-Taybi Syndrome.

Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.

Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.

Interactions between genes altered during cardiotoxicity and neurotoxicity in zebrafish revealed using induced network modules analysis.

Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants.

Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.

Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome.

An exploratory study of sleep habits in school-aged survivors of retinoblastoma.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder.

Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13.

A Phase II Trial of Guadecitabine in Children and Adults with SDH-Deficient GIST, Pheochromocytoma, Paraganglioma, and HLRCC-Associated Renal Cell Carcinoma.

Polycystic ovary syndrome.

Dysfunctional Ovarian Stem Cells Due to Neonatal Endocrine Disruption Result in PCOS and Ovarian Insufficiency in Adult Mice.

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.

Artificial intelligence for detection of microsatellite instability in colorectal cancer-a multicentric analysis of a pre-screening tool for clinical application.

The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.

Complete Tracheal Ring Deformity, Recurrent Pneumothoraces and Pleuropulmonary Blastoma in a Child: Coincidence or Common Genetic Cause?

Structure and function of an effector domain in antiviral factors and tumor suppressors SAMD9 and SAMD9L.

Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.

FMRP and MOV10 regulate Dicer1 expression and dendrite development.

Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.

Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review.

Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.

Goyal-Naqvi Syndrome (Concurrent Trisomy 10p and Terminal 14q Deletion): A Review of the Literature.

Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study.

Morphological cell profiling of SARS-CoV-2 infection identifies drug repurposing candidates for COVID-19.

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1.

Next-generation multimodality of nutrigenomic cancer therapy: sulforaphane in combination with acetazolamide actively target bronchial carcinoid cancer in disabling the PI3K/Akt/mTOR survival pathway and inducing apoptosis.

Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.

The risk of pancreatic adenocarcinoma following SARS-CoV family infection.

Functional landscape of SARS-CoV-2 cellular restriction.

Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.

Human placental cytotrophoblast epigenome dynamics over gestation and alterations in placental disease.

Global Analyses to Identify Direct Transcriptional Targets of p53.

Stable DNMT3L overexpression in SH-SY5Y neurons recreates a facet of the genome-wide Down syndrome DNA methylation signature.

Mild hyperandrogenemia in presence/absence of a high-fat, Western-style diet alters secretory phase endometrial transcriptome in nonhuman primates.

Obesity and polycystic ovary syndrome.

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Long Noncoding RNA EBLN3P Promotes the Progression of Liver Cancer via Alteration of microRNA-144-3p/DOCK4 Signal.

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.

Disrupted white matter connectivity and organization of brain structural connectomes in tuberous sclerosis complex patients with neuropsychiatric disorders using diffusion tensor imaging.

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Reclaiming Warburg: using developmental biology to gain insight into human metabolic diseases.

"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome.

Treatment Guidance for Patients With Lung Cancer During the Coronavirus 2019 Pandemic.

Pre- and postnatal exposure to glyphosate-based herbicide causes behavioral and cognitive impairments in adult mice: evidence of cortical ad hippocampal dysfunction.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Joubert Syndrome: A Rare Radiological Case.

Health professionals' practice for young people with, or at risk of, Li-Fraumeni syndrome: An Australasian survey.

Synergistic Effects of Hyperandrogenemia and Obesogenic Western-style Diet on Transcription and DNA Methylation in Visceral Adipose Tissue of Nonhuman Primates.

Alazami syndrome: the first case of papillary thyroid carcinoma.

Molecular correlates of cerebellar mutism syndrome in medulloblastoma.

Transcriptional Responses to IFN-γ Require Mediator Kinase-Dependent Pause Release and Mechanistically Distinct CDK8 and CDK19 Functions.

Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.

Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling.

Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis.

Dysregulation of hypothalamic-pituitary estrogen receptor α-mediated signaling causes episodic LH secretion and cystic ovary.

Mechanisms of human FoxP3+ Treg cell development and function in health and disease.

Global gene expression of histologically normal primary skin cells from BCNS subjects reveals "single-hit" effects that are influenced by rapamycin.

Case report of a child bearing a novel deleterious splicing variant in PIGT.

Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.

Delleman-Oorthuys syndrome (oculocerebrocutaneous syndrome) in a Nigerian child: a case report.

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.

Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report.

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Dutch validation of the low anterior resection syndrome score.

The Missing Link: A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Pediatric Patient with Heterotaxy Syndrome.

Rituximab, IVIg, and Tetracosactide (ACTH1-24) Combination Immunotherapy ("RITE-CI") for Pediatric Opsoclonus-Myoclonus Syndrome: Immunomarkers and Clinical Observations.

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.

Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.

An improved IVM method for cumulus-oocyte complexes from small follicles in polycystic ovary syndrome patients enhances oocyte competence and embryo yield.

Quality of Life in Rectal Cancer Patients After Chemoradiation: Watch-and-Wait Policy Versus Standard Resection - A Matched-Controlled Study.

Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.

Infertility diagnosis has a significant impact on the transcriptome of developing blastocysts.

Clinical characterization of novel chromosome 22q13 microdeletions.

Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype.

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Ubiquitination of hnRNPA1 by TRAF6 links chronic innate immune signaling with myelodysplasia.

Pesticides: an update of human exposure and toxicity.

An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome.

Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.

The management of anovulatory infertility in women with polycystic ovary syndrome: an analysis of the evidence to support the development of global WHO guidance.

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.

Sources and consequences of oxidative damage from mitochondria and neurotransmitter signaling.

Environmental determinants of polycystic ovary syndrome.

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome.

Non-essential role for cilia in coordinating precise alignment of lens fibres.

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.

The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.