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PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. American Journal of Medical Genetics, Part A. 2022; 188:3262-3277..
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Frontiers in Genetics. 2022; 13:887698..
Longitudinal atopic dermatitis endotypes: An atopic march paradigm that includes Black children. Journal of Allergy and Clinical Immunology. 2022; 149:1702-1710.e4..
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A retrospective examination of adjunctive L-methylfolate in children and adolescents with unipolar depression. Journal of Affective Disorders. 2022; 312:315-321..
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Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022; 149:e2022057010..
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S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome. EMBO Molecular Medicine. 2022; 14:e14904..
2022; 2022.05.16.22275164.. Interrogating the causal effects of maternal circulating CRP on gestational duration and birth weight.
Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. American Journal of Medical Genetics, Part A. 2022; 188:1997-2004..
Acquired Esophageal Strictures in Children: Morphometric and Immunohistochemical Analyses. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2022; 25:124-133..
Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction. International Journal of Cardiology. 2022; 347:29-37..
Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18. The Journal of Pediatrics. 2022; 247:116-123.e5..
A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening. International Journal of Neonatal Screening. 2022; 8:43..
International Consensus Recommendations for Eosinophilic Gastrointestinal Disease Nomenclature. Clinical Gastroenterology and Hepatology. 2022; 20:2474-2484.e3..
Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis. Journal of Allergy and Clinical Immunology. 2022; 149:708-717..
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain: a journal of neurology. 2022; 145:3274-3287..
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine. 2022; 24:1952-1966..
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. Neurology. 2022; 99:e536-e548..
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. European Journal of Human Genetics. 2022; 30:841-847..
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Journal of Autism and Developmental Disorders. 2022; 52:4828-4842..
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. Journal of Neuromuscular Diseases. 2022; 9:713-730..
Influence of CYP2D6 metabolizer status on ondansetron efficacy in pediatric patients undergoing hematopoietic stem cell transplantation: A case series. Clinical and Translational Science. 2022; 15:610-618..
Alobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision-making and prognostication. Prenatal Diagnosis. 2022; 42:617-627..
Factors impacting surgical decision making between prenatal and postnatal repair for myelomeningocele. Prenatal Diagnosis. 2022; 42:27-36..
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Nature Communications. 2022; 13:6841..
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods. Genetics in Medicine. 2022; 24:2014-2027..
2022; 142:b36.. LB1033 Thrombin contributes to atopic dermatitis pathogenesis and staphylococcus aureus skin colonization in children. Journal of Investigative Dermatology.
Editorial: Neuronopathic lysosomal storage diseases - specific neuronal characteristics and therapeutic approaches. Frontiers in Molecular Neuroscience. 2022; 15:1078804..
2022; 2022.03.29.486102.. NOMe-HiC: joint profiling of genetic variants, DNA methylation, chromatin accessibility, and 3D genome in the same DNA molecule.
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. American Journal of Medical Genetics, Part A. 2022; 188:2724-2731..
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review. European Journal of Medical Genetics. 2022; 65:104496..
Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension. The Journal of Pediatrics. 2022; 241:68-76.e3..
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2022; 135:s52.. Novel neurological findings in an adult patient with Gaucher disease. Molecular Genetics and Metabolism.
Detection and impact of genetic disease in a level IV neonatal intensive care unit. Journal of Perinatology. 2022; 42:580-588..
Association of Blood Pressure-Related Increase in Vascular Stiffness on Other Measures of Target Organ Damage in Youth. Hypertension. 2022; 79:2042-2050..
Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study. Journal of Genetic Counseling. 2022; 31:965-975..
Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2022; 205:1449-1460..
Provision of Small-Quantity Lipid-Based Nutrient Supplements Increases Plasma Selenium Concentration in Pregnant Women in Malawi: A Secondary Outcome of a Randomized Controlled Trial. Current Developments in Nutrition. 2022; 6:nzac013..
Fat and Protein Combat Triggers Immunological Weapons of Innate and Adaptive Immune Systems to Launch Neuroinflammation in Parkinson's Disease. International Journal of Molecular Sciences. 2022; 23:1089..
Experiences of reproductive genetic counselors with abortion regulations in Ohio. Journal of Genetic Counseling. 2022; 31:641-652..
Development and Validation of Web-Based Tool to Predict Lamina Propria Fibrosis in Eosinophilic Esophagitis. The American Journal of Gastroenterology (Elsevier). 2022; 117:272-279..
2022; 135:s56-s57.. A study to evaluate the effect of venglustat on neuropathic and abdominal pain in symptomatic adult patients with Fabry disease. Molecular Genetics and Metabolism.
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Molecular Cytogenetics. 2022; 15:10..
Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report. Clinical Case Reports. 2022; 10:e05370..
2022; 6:a644.. RF26 | PMON326 Medical History of Children Enrolled in PROPEL: A Prospective Clinical Assessment Study in Children with Achondroplasia. Journal of the Endocrine Society.
Genetics, epigenetics, and transcriptomics of preterm birth. American journal of reproductive immunology and microbiology : AJRIM. 2022; 88:e13600..
Vitamin D, skin filaggrin, allergic sensitization, and race. Annals of Allergy, Asthma, and Immunology. 2022; 128:399-407.e3..
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. The American Journal of Human Genetics. 2022; 109:2068-2079..
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. American Journal of Medical Genetics, Part A. 2022; 188:2479-2484..
Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal. Cancer Epidemiology, Biomarkers and Prevention. 2022; 31:1351-1358..
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The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genetics in Medicine. 2022; 24:1130-1138..
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Experiences of adolescents and their parents after receiving adolescents' genomic screening results. Journal of Genetic Counseling. 2022; 31:608-619..
At the dawn: cell-free DNA fragmentomics and gene regulation. British Journal of Cancer. 2022; 126:379-390..
Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota. The Pharmacogenomics Journal. 2022; 22:117-123..
Human fetal cerebellar cell atlas informs medulloblastoma origin and oncogenesis. Nature. 2022; 612:787-794..
Developing video education materials for the return of genomic test results to parents and adolescents. PEC Innovation. 2022; 1:100051..
The Pediatric Asthma Risk Score: More does not mean better. Annals of Allergy, Asthma, and Immunology. 2022; 128:729-730..
Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. Genetics in Medicine. 2022; 24:1297-1305..
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances. 2022; 8:eabl5613..
Shared Purpose: Leveraging a Community-Academic Partnership to Increase Local Environmental Health Awareness via Community Science. Journal of participatory research methods. 2022; 3:10.35844/001c.38475..
SLCO1B1 *15 allele is associated with methotrexate-induced nausea in pediatric patients with inflammatory bowel disease. Clinical and Translational Science. 2022; 15:63-69..
Association of CYP2D6 genotype predicted phenotypes with oxycodone requirements and side effects in children undergoing surgery. Annals of translational medicine. 2022; 10:1262..
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of medical genetics. 2022; 59:865-877..
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma. American Journal of Medical Genetics, Part A. 2022; 188:2766-2771..
Maternal factors during pregnancy influencing maternal, fetal and childhood outcomes: Meet the Guest Editors. BMC Medicine. 2022; 20:114..
2022; 1:108-123.. Preventing Spontaneous Preterm Birth: Insights from Genomics.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?. The Journal of molecular diagnostics : JMD. 2022; 24:274-286..
TSLP disease-associated genetic variants combined with airway TSLP expression influence asthma risk. Journal of Allergy and Clinical Immunology. 2022; 149:79-88..
A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination. Journal of Genetic Counseling. 2022; 31:302-315..
Multiancestral polygenic risk score for pediatric asthma. Journal of Allergy and Clinical Immunology. 2022; 150:1086-1096..
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Movement Disorders. 2022; 37:375-383..
The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research. Genetics in Medicine. 2022; 24:410-418..
Control of cranial ectomesenchyme fate by Nr2f nuclear receptors. Development (Cambridge). 2022; 149:dev201133..
Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers. Annals of Neurology. 2022; 91:424-435..
2022; 208:166.01.. Acid β-glucosidase insufficiency activates the C-X-C Motif Chemokine Ligand 9/CXCR3 axis leading to T cell mediated inflammation in Gaucher disease.
The Role of Alpha-Synuclein Autoantibodies in the Induction of Brain Inflammation and Neurodegeneration in Aged Humans. Frontiers in Aging Neuroscience. 2022; 14:902191..
Pre-existing humoral immune comebacks control the development of the severe form of coronavirus disease 2019 in Gaucher patients. Clinical and Translational Discovery. 2022; 2:e96..
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Patterning of cartilaginous condensations in the developing facial skeleton. Developmental Biology. 2022; 486:44-55..
Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome. Molecular Syndromology. 2022; 13:337-342..
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development. HGG Advances. 2022; 3:100115..
Diurnal rhythms of spontaneous intracranial high-frequency oscillations. Seizure-European Journal of Epilepsy. 2022; 102:105-112..
US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER). Genetics in Medicine. 2022; 24:238-244..
Whole transcriptome profiling of prospective endomyocardial biopsies reveals prognostic and diagnostic signatures of cardiac allograft rejection. Journal of Heart and Lung Transplantation. 2022; 41:840-848..
Arrhythmia Burden and Heart Rate Response During Exercise in Anderson-Fabry Disease. Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital. 2022; 49:e207363..
Cardiovascular Risk Factors and Target Organ Damage in Adolescents: The SHIP AHOY Study. Pediatrics. 2022; 149:e2021054201..
2022; 37:477-481.. Defibrillator Delivered Energy Measurement Study with a Calibration Set Up at Different Trans-Thoracic Impedance. Mapan - Journal of Metrology Society of India.
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach. Genetics in Medicine. 2022; 24:1206-1216..
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human Molecular Genetics. 2022; 31:3083-3094..
2022; 100:s51-s52.. Outcomes of Pre-treatment and Post-treatment measures after therapy for pediatric circadian disorders. Sleep Medicine.
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Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. Obesity. 2022; 30:2477-2488..
2022; 6:a632-a633.. PSAT105 Evaluation of Body Mass Index and Metabolic Parameters in Children with Achondroplasia Participating in the PROPEL Study. Journal of the Endocrine Society.
Ontogeny and function of the circadian clock in intestinal organoids. The EMBO Journal. 2022; 41:e106973..
Long-Lasting Dissociation of Esophageal Eosinophilia and Symptoms After Dilation in Adults With Eosinophilic Esophagitis. Clinical Gastroenterology and Hepatology. 2022; 20:766-775.e4..
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. Therapeutic Advances in Musculoskeletal Disease. 2022; 14:1759720X221084848..
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genetics in Medicine. 2022; 24:2444-2452..
2022; 6:a591-a592.. LBMON196 A Randomized Controlled Trial Of Vosoritide In Infants And Toddlers With Achondroplasia. Journal of the Endocrine Society.
How we approach genetics in the diagnosis and management of vascular anomalies. Pediatric Blood and Cancer. 2022; 69 Suppl 3:e29320..
Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant. Neurology: Genetics. 2022; 8:e200001..
Treatment of a genetic brain disease by CNS-wide microglia replacement. Science Translational Medicine. 2022; 14:eabl9945..
A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders. Frontiers in Genetics. 2022; 13:901458..
Evaluating Eosinophilic Colitis as a Unique Disease Using Colonic Molecular Profiles: A Multi-Site Study. Gastroenterology. 2022; 162:1635-1649..
Loss of Endothelial TSPAN12 Promotes Fibrostenotic Eosinophilic Esophagitis via Endothelial Cell-Fibroblast Crosstalk. Gastroenterology. 2022; 162:439-453..
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A. European Journal of Medical Genetics. 2022; 65:104407..
Predicting genes from phenotypes using human phenotype ontology (HPO) terms. Human Genetics. 2022; 141:1749-1760..
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Stable methylation loci are associated with systolic blood pressure in a Croatian island population. Epigenomics. 2022; 14:1343-1354..
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency. The Journal of biological chemistry. 2022; 298:102385..
Preference for secondary findings in prenatal and pediatric exome sequencing. Prenatal Diagnosis. 2022; 42:753-761..
Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 2022; 59:2002463..
Brain-Derived Neurotrophic Factor Val66Met and Behavioral Adjustment after Early Childhood Traumatic Brain Injury. Journal of Neurotrauma. 2022; 39:114-121..
Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy. International Journal of Molecular Sciences. 2022; 23:14340..
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation. 2022; 43:1377-1395..
2022; 140:1234-1235.. De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts. Blood.
The genetic architecture of pediatric cardiomyopathy. The American Journal of Human Genetics. 2022; 109:282-298..
Craniosynostosis is a feature of Costello syndrome. American Journal of Medical Genetics, Part A. 2022; 188:1280-1286..
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Circulation: Genomic and Precision Medicine. 2022; 15:e003635..
Robin sequence without cleft palate: Genetic diagnoses and management implications. American Journal of Medical Genetics, Part A. 2022; 188:160-177..
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Journal of Genetic Counseling. 2022; 31:153-163..
2022; 100:s172-s173.. Safe and Effective Use of Suvorexant in Children with Neurodevelopmental Disorders: A Single-Center, Retrospective Study of Clinical Practice. Sleep Medicine.
2022; 100:s208.. Suvorexant Is Safe and Effective in a Pediatric Population: A Single-Center, Retrospective Study. Sleep Medicine.
An in silico genome-wide screen for circadian clock strength in human samples. Editor, Mathelier A. Bioinformatics. 2022; 38:5375-5382..
Do research participants share genomic screening results with family members?. Journal of Genetic Counseling. 2022; 31:447-458..
Hepatoma-derived growth factor is associated with pulmonary vascular remodeling and PAH disease severity and survival. Pulmonary Circulation. 2022; 12:e12007..
Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients. Genetics in Medicine. 2022; 24:2329-2337..
Burden of Valvular Heart Disease in Patients with Fabry Disease. Journal of the American Society of Echocardiography. 2022; 35:236-238..
Childhood Asthma Incidence, Early and Persistent Wheeze, and Neighborhood Socioeconomic Factors in the ECHO/CREW Consortium. JAMA Pediatrics. 2022; 176:759-767..
A clinical scoring system for early onset (neonatal) Marfan syndrome. Genetics in Medicine. 2022; 24:1503-1511..
Analysis of Diurnal Variations in Heart Rate: Potential Applications for Chronobiology and Cardiovascular Medicine. Frontiers in Physiology. 2022; 13:835198..
Analysis of the Biomarkers for Neurodegenerative Diseases in Aged Progranulin Deficient Mice. International Journal of Molecular Sciences. 2022; 23:629..
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing. Genome Medicine: medicine in the post-genomic era. 2022; 14:138..
Neurobehavioral abnormalities following prenatal psychosocial stress are differentially modulated by maternal environment. Translational Psychiatry. 2022; 12:22..
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. Genetics in Medicine. 2022; 24:454-462..