Cohort expansion and genotype-phenotype analysis of RAB11A-associated neurodevelopmental disorder MC Borroto, H Patel, S Srivastava, LC Swanson, B Keren, S Whalen, ... Pediatric Neurology, 2024 | | 2024 |
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis J Pucel, LC Briere, C Reuter, P Gochyyev, MT Acosta, DR Adams, ... Genetics in Medicine 26 (6), 101115, 2024 | | 2024 |
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. JN Kohler, NR Legro, D Baldridge, J Shin, A Bowman, B Ugur, ... Genetics in Medicine, 101166, 2024 | | 2024 |
Can Community Health Workers in Miami Disrupt Disparities among Black People Living with HIV: A Qualitative Analysis S Kenya, BA Young, L Richards, F Casanova, A Rodriguez, J Blackmon, ... The Open AIDS Journal 18 (1), 2024 | | 2024 |
101 Participation of Racial and Ethnic Minorities in Decentralized Trials: The ACTIV-6 Experience M Rohde, D Jayaweera, O Carrasquillo, T Stewart Journal of Clinical and Translational Science 8 (s1), 28-28, 2024 | | 2024 |
125 Insights from a Process Improvement Co-op in the Development of an Informed Consent Professional Certificate (ICPC) Course M Davalos, KF Viamonte, C Gates, O Carrasquillo, EN Kobetz, ... Journal of Clinical and Translational Science 8 (s1), 36-37, 2024 | | 2024 |
De novo variants in DENND5B cause a neurodevelopmental disorder M Scala, V Tomati, M Ferla, M Lena, JS Cohen, A Fatemi, E Brokamp, ... The American Journal of Human Genetics 111 (3), 529-543, 2024 | | 2024 |
Tailoring HIV Care for Black Populations (Preprint) BA Young, O Carrasquillo, DJ Weiss, Y Pan, S Kenya JMIR formative research, 2024 | | 2024 |
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability D Dutta, O Kanca, RV Shridharan, PC Marcogliese, B Steger, M Morimoto, ... Proceedings of the National Academy of Sciences 121 (9), e2322582121, 2024 | | 2024 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections L Jeffries, EK Mis, K McWalter, S Donkervoort, NN Brodsky, JM Carpier, ... Genetics in medicine 26 (2), 101023, 2024 | 1 | 2024 |
Abortion education: What are future physicians learning in medical school? JA Heger, BAJ Young, LR Richards, O Carrasquillo, S Kenya Contraception 130, 110293, 2024 | | 2024 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 MS Paul, SL Michener, H Pan, H Chan, JM Pfliger, JA Rosenfeld, ... The American Journal of Human Genetics 111 (1), 96-118, 2024 | 5 | 2024 |
Central Adiposity and Mortality Among Hispanic and Latino Adults—Moving Away From the Body Mass Index O Carrasquillo, V Cueto JAMA Network Open 7 (1), e2351000-e2351000, 2024 | | 2024 |
Does Medical School Prepare Doctors to Treat Sexual Health? S Kenya, BA Young, F Joseph, O Carrasquillo Journal of Counseling Sexology & Sexual Wellness: Research, Practice, and …, 2024 | | 2024 |
Telehealth Implementation Response to COVID-19 in the OneFlorida+ Clinical Research Network: Perspectives of Clinicians and Health Systems Leaders RP Theis, JI Dorbu, ME Mavrodieva, RA Guerrero, SE Wright, ... Telemedicine and e-Health 30 (1), 268-277, 2024 | | 2024 |
Abstract B044: Avanzando Caminos (Leading Pathways): The Hispanic/Latino cancer survivorship cohort study AG Ramirez, P Chalela, S Rowan, YR Lew, VC Garza, N Rodriguez, ... Cancer Epidemiology, Biomarkers & Prevention 32 (12_Supplement), B044-B044, 2023 | | 2023 |
Community-Engaged Research-Essential to Addressing Health Inequities CH Wilkins, ST Miller, AN Richmond, O Carrasquillo The New England journal of medicine 389 (21), 1928-1931, 2023 | 5 | 2023 |
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care MC Halley, JL Young, C Tang, KT Mintz, S Lucas-Griffin, AS Maghiro, ... The Journal of Pediatrics 261, 113537, 2023 | 1 | 2023 |
“Click and mortar” opportunities for digitization and consumerism in trials RL Randell, CP Hornik, L Curtis, AF Hernandez, T Denwood, C Nebeker, ... Contemporary clinical trials 132, 107304, 2023 | | 2023 |
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy V Shashi, K Schoch, R Ganetzky, PG Kranz, N Sondheimer, ML Markert, ... Genetics in Medicine 25 (9), 100897, 2023 | 2 | 2023 |