A5058707202- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Ethics in Clinical Research
- Prenatal Screening and Diagnostics
- Health Systems, Economic Evaluations, Quality of Life
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Innovations in Medical Education
- Forensic and Genetic Research
- Ion Transport and Channel Regulation
- Advances in Oncology and Radiotherapy
- Pediatric Hepatobiliary Diseases and Treatments
- Big Data and Business Intelligence
- Neuroendocrine Tumor Research Advances
- Machine Learning in Healthcare
- Neonatal Respiratory Health Research
- Nursing education and management
- ATP Synthase and ATPases Research
- Economic and Financial Impacts of Cancer
- Diabetes Treatment and Management
- Cancer Genomics and Diagnostics
- Pancreatitis Pathology and Treatment
- Pancreatic and Hepatic Oncology Research
Columbia University
2019-2025
Columbia College
2024
Royal College of Physicians
2024
Columbia University Irving Medical Center
2021-2023
Morgan Stanley Children's Hospital
2022
NewYork–Presbyterian Hospital
2019-2020
Texas Health Dallas
2020
Penn Presbyterian Medical Center
2020
Memorial Sloan Kettering Cancer Center
2014
General Department of Preventive Medicine
2005
Abstract SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as mitotic chromosome associated protein. depletion leads to centrosome detachment from the spindle poles and misalignment. Aided by gene matching platforms, here we identify 28 individuals with neurodevelopmental delays 21 families bi-allelic variants in detected exome/genome sequencing. Zebrafish spout1/cenp-32 mutants show reduction larval head size concomitant apoptosis likely altered cell cycle...
This study examines whether Welliba’s passive‐data approach can match or surpass insights derived from established survey methods in capturing employee experience (EX). Drawing on publicly accessible information—from sources like review platforms and market intelligent platforms—Welliba’s model generates EX metrics. Firstly, these were evaluated against eNPS scores. Results indicate a robust, positive correlation (r = .74, p < .001), suggesting that organizations scoring high also...
This study investigates the effectiveness of an automatic text summarisation (ATS) modelcompared to subject-matter expert (SME) summaries in context employee feedbackanalysis. Drawing on qualitative data from 113 responses, three SMEs manuallyproduced comprehensive using established techniques, while ATSmodel generated alternative, machine-created summary. A total 200 participantsevaluated these four linguistic quality, adequacy, overall andperceived likelihood AI authorship. Results...
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported 11 individuals with intellectual disability (ID). The function of is largely unknown but it likely to play a key role the unfolded response endoplasmic reticulum stress through transcriptional control proteostasis. In this study, we present 27 additional and delineate clinical molecular spectrum (n = 38) variants. main features were mild moderate developmental delay/ID (71%), nonspecific facial dysmorphism (92%)...
Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit the vacuolar (V)-ATPase protein pump. Pathogenic variants have been described association with a congenital disorder glycosylation (CDG), which highly variable, but often characterized by immunodeficiency, hepatopathy, and neurologic...
Reaching the goals set by Health Care Payment and Learning Action Network requires an unyielding unrelenting focus on encouraging providers to adopt advanced alternative payment models (APMs). Many of these will continue be voluntary because they either are in early stages or have not yet proven their effectiveness. The that effectiveness should become permanent, comprising new way paid Medicare program. Either way, getting today's high performers into those programs keeping them engaged...
Interpretation of many genetic test results can change over time as new data accumulate. Hence, physicians who order tests may subsequently receive revised reports with important implications for patients' medical treatment—even patients are no longer in their care. Several the ethical principles underlying practice suggest an obligation to reach out former this information. Discharging that be accomplished, at a minimum, by attempting contact patient last known
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as mitotic chromosome associated protein. depletion leads to centrosome detachment from the spindle poles and misalignment. Aided by gene matching platforms, we 24 individuals with neurodevelopmental delays 18 families bi-allelic variants in detected exome/genome sequencing. Zebrafish spout1/cenp-32 mutants showed reduction larval head size concomitant apoptosis likely altered cell cycle progression. In vivo...
Abstract Increased utilization of genomic sequencing in pediatric medicine has increased the detection variants uncertain significance (VUS). Periodic VUS reinterpretation can clarify clinical and increase diagnostic yield, highlighting importance systematic tracking reinterpretation. There are currently no standardized guidelines or established best practices for management, our understanding how genetic counselors (GCs) track manage results patients is limited. In this exploratory study,...
Author Affiliation: Instructor, Medcenter One College of Nursing, Bismarck, North Dakota.Sara BergerCorrespondence: 512 N 7th St, ND 58501 ([email protected]).
42 Background: As part of the Affordable Care Act (ACA) 2010, Prospective Payment System-Exempt Cancer Hospital Quality Reporting (PCHQR) Program was created for 11 cancer centers. PCHQR includes an initial set 5 measures mandated federal reporting and expanded to include 18 subsequent program years. The Alliance Dedicated Centers (ADCC) formed in 1983 represent interests same a small previously organized group, we have been able collaborate closely throughout implementation understand,...