Long Term Follow Up of Children Who Received Rapid Genomic Sequencing
Genet Med. 2025 Mar 7:101403. doi: 10.1016/j.gim.2025.101403. Online ahead of print. ABSTRACT PURPOSE: To explore long-term trajectories of children who received rapid genome sequencing (RGS) in intensive care settings. METHODS: We examined the electronic health records (EHR) of 67 critically ill pediatric patients who received RGS six to eight years ago with a collective initial […]
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission
NPJ Genom Med. 2025 Jun 12;10(1):47. doi: 10.1038/s41525-025-00506-3. ABSTRACT Identifying critically ill newborns who will benefit from whole genome sequencing (WGS) is difficult and time-consuming due to complex eligibility criteria and evolving clinical features. The Mendelian Phenotype Search Engine (MPSE) automates the prioritization of neonatal intensive care unit (NICU) patients for WGS. Using clinical data […]
Advancing precision care in pregnancy through a treatable fetal findings list
Am J Hum Genet. 2025 Apr 3:S0002-9297(25)00110-7. doi: 10.1016/j.ajhg.2025.03.011. Online ahead of print. ABSTRACT The use of genomic sequencing (GS) for prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal GS also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phenotype but may […]
The contribution of de novo coding mutations to meningomyelocele
Nature. 2025 Mar 26. doi: 10.1038/s41586-025-08676-x. Online ahead of print. ABSTRACT Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute […]
Prefrontal cortex modulation of stress by primary cilia
Neuron. 2025 Apr 16;113(8):1126-1128. doi: 10.1016/j.neuron.2025.03.026. ABSTRACT In this issue of Neuron, Yang et al.1 reveal that primary cilia in mouse prefrontal cortex excitatory neurons regulate stress responses via cAMP/PKA signaling. Stress induces ciliary elongation, enhancing corticosterone-mediated neuronal inhibition. Cilia loss reduces stress sensitivity, highlighting their role in stress adaptation, with potential therapeutic relevance. PMID:40245842 […]
A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit
NPJ Digit Med. 2025 Jan 30;8(1):72. doi: 10.1038/s41746-025-01458-9. ABSTRACT The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients in the neonatal intensive care unit. After the MPSE was introduced, utilization of WGS increased, time […]
A comparative view of human and mouse telencephalon inhibitory neuron development
Development. 2025 Jan 1;152(1):dev204306. doi: 10.1242/dev.204306. Epub 2025 Jan 2. ABSTRACT Human GABAergic inhibitory neurons (INs) in the telencephalon play crucial roles in modulating neural circuits, generating cortical oscillations, and maintaining the balance between excitation and inhibition. The major IN subtypes are based on their gene expression profiles, morphological diversity and circuit-specific functions. Although previous […]
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial
Am J Hum Genet. 2024 Dec 5;111(12):2643-2667. doi: 10.1016/j.ajhg.2024.10.020. ABSTRACT Large prospective clinical trials are underway or planned that examine the clinical utility and cost effectiveness of genome-based newborn screening (gNBS). One gNBS platform, BeginNGS, currently screens 53,575 variants for 412 severe childhood genetic diseases with 1,603 efficacious therapies. Retrospective evaluation of BeginNGS in 618,290 […]
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection
Am J Hum Genet. 2024 Dec 5;111(12):2618-2642. doi: 10.1016/j.ajhg.2024.10.021. ABSTRACT Genome-sequence-based newborn screening (gNBS) has substantial potential to improve outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major impediment to gNBS is imprecision due to variants classified as pathogenic (P) or likely pathogenic (LP) that are not SCGD causal. gNBS with 53,855 […]
Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO)
J Perinatol. 2024 Nov 27. doi: 10.1038/s41372-024-02181-1. Online ahead of print. ABSTRACT OBJECTIVE: The objective of this study is to describe the impact of rapid and ultra-rapid whole genome sequencing (rWGS/urWGS) on the care of neonatal intensive care (NICU) patients who require extracorporeal membrane oxygenation (ECMO). STUDY DESIGN: This is a retrospective cohort study at […]