[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 …

[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 …

A longitudinal big data approach for precision health

…, AB Ganz, J Dunn, D Hornburg, S Rego… - Nature medicine, 2019 - nature.com
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 …

[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 …

[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 …

[PDF][PDF] iPSC modeling of RBM20-deficient DCM identifies upregulation of RBM20 as a therapeutic strategy

…, W Wei, J Wu, C Zhu, M Liss, I Karakikes, S Rego… - Cell reports, 2020 - cell.com
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 …

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 ‐…

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 …

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

…, E Reesor, T Yao, RA Hegele, OM Vaske, S Rego… - Genetics in …, 2020 - nature.com
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 …

[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 …