2025; 12:100339.
. A Multi-Omics Approach to Defining the Target Organ Injury in Youth with Primary Hypertension. Journal of Molecular and Cellular Cardiology Plus.Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments. Journal of Neuro-Oncology. 2025; 174:65-76.
.2025; 3:102108.
. O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations. Genetics in Medicine Open.2025; 3:102303.
. P338: Studying the role of the DIP2C gene in humans and zebrafish. Genetics in Medicine Open.Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results. Genetics in Medicine. 2025; 27:101363.
.Statistical signature of subtle behavioral changes in large-scale assays. Editor, Marinazzo D. PLoS Computational Biology. 2025; 21:e1012990.
.Decision stability among adolescents and young adults making choices about learning genomic research results. Journal of Genetic Counseling. 2025; 34:e2010.
.A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116. American Journal of Medical Genetics, Part A. 2025; 197:e64070.
.Cellular Communication Network Protein 2 in the Right Ventricle of Pulmonary Arterial Hypertension. Pulmonary Circulation. 2025; 15:e70067.
.2025; 3:102154.
. P189: Endocrinopathies in TAOK1-related neurodevelopmental disorders: An expanded case series on the evolution of symptoms in adolescents and young adults. Genetics in Medicine Open.Race-Specific and Race-Neutral Equations for Lung Function and Asthma Diagnosis in Black Children. JAMA Network Open. 2025; 8:e2462176.
.Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis. Journal of Allergy and Clinical Immunology. 2025; 156:270-278.
.FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1. Molecular Therapy. 2025; 33:3789-3807.
.Correspondence on "Weighty matters: Considering the ethics of genetic risk scores for obesity " by C. Houtz. Genetics in Medicine. 2025; 27:101324.
.Medical and Early Developmental Outcomes for Patients with Congenital Ventriculomegaly. Fetal Diagnosis and Therapy: clinical advances and basic research. 2025; 52:271-279.
.Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol. Molecular Genetics and Metabolism. 2025; 145:109104.
.Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis. Molecular Genetics and Metabolism. 2025; 145:109156.
.Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review. Editor, Das SP. Case Reports in Genetics. 2025; 2025:4501466.
.2025; 52:s38-s39.
. P.101 Miglustat: a first-in-class enzyme stabiliser for late-onset Pompe Disease. Canadian Journal of Neurological Sciences.Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype. Frontiers in Pediatrics. 2025; 13:1518782.
.A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma. Cancer genetics. 2025; 292-293:38-43.
.2025; 211:a3275.
. Association of FOXF1 Genomic Variants With Children and Adults With Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine.Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study. Journal of Genetic Counseling. 2025; 34:e70027.
.Lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension. Science. 2025; 387:eadn7277.
.Tet Methylcytosine Dioxygenase 2 (TET2) Mutation Drives a Global Hypermethylation Signature in Patients With Pulmonary Arterial Hypertension (PAH): Correlation With Altered Gene Expression Relevant to a Common T Cell Phenotype. Comprehensive Physiology. 2025; 15:e70011.
.2025; 144:108766.
. Miglustat: A first-in-class enzyme stabilizer for late-onset Pompe disease. Molecular Genetics and Metabolism.2025; 144:108768.
. Evaluating the relationship between infusion-related reactions and anti-drug antibody status: Results from 111 patients with Fabry disease treated with pegunigalsidase alfa. Molecular Genetics and Metabolism.Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters). Orphanet Journal of Rare Diseases. 2025; 20:433.
.2025; 4:2383163.
. Plain Language Summary: Looking at treatment outcomes in people with Fabry disease who started agalsidase beta before the age of 30 years. Future Rare Diseases.2025; 144:108769.
. Quality of life of migalastat-treated adolescents with Fabry disease: Results from the ASPIRE study and open-label extension. Molecular Genetics and Metabolism.2025; 144:108773.
. Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR). Molecular Genetics and Metabolism.Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children. Clinical Cancer Research. 2025; 31:1573-1579.
.Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome. Journal of the American Academy of Audiology. 2025; 36:45-52.
.Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods. American Journal of Medical Genetics, Part A. 2025; 197:e63925.
.2025; 144:108819.
. Improved growth in children with Fabry disease during treatment with agalsidase beta: A Fabry Registry analysis. Molecular Genetics and Metabolism.A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression. Frontiers in Cell and Developmental Biology. 2025; 13:1522094.
.A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2025; 27:101391.
.A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy. Brain and Behavior. 2025; 15:e70276.
.2025; 144:108840.
. Lower rate of infusion-related reactions in patients with Fabry disease after switching from agalsidase beta to pegunigalsidase alfa. Molecular Genetics and Metabolism.Clinical, Immunologic, and Genetic Characteristics in Patients With Syndrome of Undifferentiated Recurrent Fevers. Arthritis and Rheumatology. 2025; 77:596-605.
.Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes. Clinical Cancer Research. 2025; 31:457-465.
.Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate. Editor, Cray JJ. PloS one. 2025; 20:e0324803.
.Social Environment and Neurobehavioral Outcomes 1 Year After Severe Pediatric TBI in the Intensive Care Unit. The Journal of Head Trauma Rehabilitation. 2025; 40:147-156.
.Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genetics in Medicine. 2025; 27:101443.
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. Miglustat: A First-In-Class Enzyme Stabilizer for Late-Onset Pompe Disease (P10-2.012). Neurology.Survey research in genetic counseling. Journal of Genetic Counseling. 2025; 34:e70049.
.RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy. Journal of Clinical Neuromuscular Disease. 2025; 26:148-151.
.Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center. Journal of Genetic Counseling. 2025; 34:e1984.
.Molecular Diplomacy of Lipids in the War of Immunity: Bridging Rare and Common Disease Mechanisms. International Journal of Molecular Sciences. 2025; 26:5568.
.The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome ": A case report of the 7th diagnosed individual and review of the literature. Clinical Case Reports. 2025; 13:e9208.
.BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. European Journal of Human Genetics. 2025; 33:312-324.
.Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling. 2025; 34:e1892.
.Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension. Molecular Genetics and Metabolism. 2025; 145:109102.
.2025; 144:108910.
. Long-term safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from the ASPIRE study and open-label extension. Molecular Genetics and Metabolism.Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. Genetics in Medicine. 2025; 27:101457.
.Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature. Journal of Genetic Counseling. 2025; 34:e70033.
.Advances on the genetic basis of red cell membrane disorders. Current Opinion in Hematology. 2025; 32:279-286.
.2025; 211:a7247.
. Sex-specific Differences in Eicosanoid and Bioactive Lipid Metabolites and Their Associations With Hemodynamic Parameters in Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine.High rates of placental inflammation among samples collected by the Multi-Omics for Mothers and Infants consortium. American Journal of Obstetrics and Gynecology. 2025; 232:230.e1-230.e19.
.Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. The American Journal of Human Genetics. 2025; 112:75-86.
.Oral Infigratinib Therapy in Children with Achondroplasia. The New England Journal of Medicine. 2025; 392:865-874.
.2025; 3:102089.
. O13: Oral infigratinib for children with achondroplasia: Month 18 results from the PROPEL 2 study. Genetics in Medicine Open.Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex. Clinical Cancer Research. 2025; 31:234-244.
.Association between gestational weight gain and adverse pregnancy outcomes: cohort analysis from South Asia and Sub-Saharan Africa. 2025; 3:e000900.
.Phenotypes of Atopic Dermatitis and Development of Allergic Diseases. JAMA Network Open. 2025; 8:e2515094.
.Haplotype-based analysis distinguishes maternal-fetal genetic contribution to pregnancy-related outcomes. Editor, Cordell HJ. PLoS Genetics. 2025; 21:e1011575.
.Electronically Monitored Antidepressant Adherence in Adolescents with Anxiety Disorders: A Pilot Study. Journal of Child and Adolescent Psychopharmacology. 2025; 35:145-154.
.RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures. Genetics in Medicine. 2025; 27:101347.
.2025; 3:102227.
. P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study. Genetics in Medicine Open.Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants. Blood. 2025; 145:2992-3006.
.2025; 3:101955.
. 38: Adoption of the ACMG and ClinGen copy number variant (CNV) technical standards in clinical genetic laboratories in the United States. Genetics in Medicine Open.Editorial: Recent advances in causes, diagnosis, and therapeutics for congenital heart defects. Frontiers in Genetics. 2025; 16:1564492.
.Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency. Frontiers in Pediatrics. 2025; 13:1549400.
.2025; 211:a7248.
. Comparative Metabolomic and Molecular Profiles in Methamphetamine-associated and Idiopathic Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine.A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression. American Journal of Medical Genetics, Part A. 2025; 197:e64000.
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