[HTML][HTML] Digital health: tracking physiomes and activity using wearable biosensors reveals useful health-related information
…, D Perelman, E Colbert, R Runge, S Rego… - PLoS …, 2017 - journals.plos.org
A new wave of portable biosensors allows frequent measurement of health-related physiology.
We investigated the use of these devices to monitor human physiological changes during …
We investigated the use of these devices to monitor human physiological changes during …
[HTML][HTML] Longitudinal multi-omics of host–microbe dynamics in prediabetes
…, B Leopold, M Ashland, O Dagan-Rosenfeld, S Rego… - Nature, 2019 - nature.com
Type 2 diabetes mellitus (T2D) is a growing health problem, but little is known about its
early disease stages, its effects on biological processes or the transition to clinical T2D. To …
early disease stages, its effects on biological processes or the transition to clinical T2D. To …
A longitudinal big data approach for precision health
Precision health relies on the ability to assess disease risk at an individual level, detect early
preclinical conditions and initiate preventive strategies. Recent technological advances in …
preclinical conditions and initiate preventive strategies. Recent technological advances in …
[PDF][PDF] Integrative personal omics profiles during periods of weight gain and loss
…, D Perelman, C Craig, E Colbert, D Salins, S Rego… - Cell systems, 2018 - cell.com
Advances in omics technologies now allow an unprecedented level of phenotyping for
human diseases, including obesity, in which individual responses to excess weight are …
human diseases, including obesity, in which individual responses to excess weight are …
[HTML][HTML] Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
A Slavotinek, S Rego, N Sahin-Hodoglugil… - NPJ genomic …, 2023 - nature.com
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals
of European ancestry, with less focus on underrepresented minority (URM) and underserved …
of European ancestry, with less focus on underrepresented minority (URM) and underserved …
[PDF][PDF] iPSC modeling of RBM20-deficient DCM identifies upregulation of RBM20 as a therapeutic strategy
Recent advances in induced pluripotent stem cell (iPSC) technology and directed differentiation
of iPSCs into cardiomyocytes (iPSC-CMs) make it possible to model genetic heart …
of iPSCs into cardiomyocytes (iPSC-CMs) make it possible to model genetic heart …
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
…, S Rego, AP Acyinena, P Shannon… - Human …, 2021 - Wiley Online Library
Nicotinamide adenine dinucleotide (NAD) is an essential coenzyme involved in over 400
cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary l ‐…
cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary l ‐…
Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group
…, JM O'Daniel, RY Patel, EM Ramos, S Rego… - Human …, 2018 - Wiley Online Library
The use of genome‐scale sequencing allows for identification of genetic findings beyond
the original indication for testing (secondary findings). The ClinGen Actionability Working …
the original indication for testing (secondary findings). The ClinGen Actionability Working …
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Purpose Somatic variants in tumor necrosis factor receptor–associated factor 7 (TRAF7) cause
meningioma, while germline variants have recently been identified in seven patients with …
meningioma, while germline variants have recently been identified in seven patients with …
[PDF][PDF] Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
…, I Thiffault, F Del Viso, P Devine, S Rego… - The American Journal of …, 2022 - cell.com
Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded
fiber wrapped around a histone octamer. This organization supports cellular …
fiber wrapped around a histone octamer. This organization supports cellular …