Profile of Eric Green <subtitle>Director of the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</subtitle> by Kristie Nybo

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Ethical considerations in utilizing artificial intelligence for analyzing the NHGRI’s History of Genomics and Human Genome Project archives by Christopher Donohue, Kris Wetterstrand, Kristi Holmes, Luis A. Nunes Amaral, Mohammad Hosseini, Spencer Hong, Thomas Stoeger

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O09: Phenome-wide studies of hereditary transthyretin amyloidosis in the All of Us research program by Cassia Williams-Rogers, Tam Tran, Caralynn Wilczewski, Felicia Akinwande, Nicholas Singh-Miller, Ashley Glasper, Yeabsira Tufa, Tracey Ferrara, Jennifer Johnston, Leslie Biesecker, Joshua Denny, Clesson Turner, Huan Mo

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P143: Clinical investigation of bleeding diatheses in patients with Hermansky-Pudlak syndrome* by Christopher Song, Wendy Introne, Kevin O'Brien, Srikar Kuppa, Thomas Markello, William Gahl, May Christine Malicdan, Allan Alexander

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Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD) by Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan

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Phenotypic variance explained by local ancestry in admixed African Americans by Daniel eShriner, Amy R. Bentley, Ayo Priscille Doumatey, Guanjie eChen, Jie eZhou, Adebowale eAdeyemo, Charles N. Rotimi

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Universal genome-wide association studies: Powerful joint ancestry and association testing by Daniel Shriner, Amy R. Bentley, Mateus H. Gouveia, Elisabeth F. Heuston, Ayo P. Doumatey, Guanjie Chen, Jie Zhou, Adebowale Adeyemo, Charles N. Rotimi

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Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

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Time-to-event modeling of hypertension reveals the nonexistence of true controls by Daniel Shriner, Amy R Bentley, Jie Zhou, Kenneth Ekoru, Ayo P Doumatey, Guanjie Chen, Adebowale Adeyemo, Charles N Rotimi

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O26: Analysis of patient-reported outcomes and a functional assessment from 3-year nitisinone treatment trial in patients with alkaptonuria by Kathryn Spears, Francis Rossignol, Monique Perry, Joy Bryant, William Gahl, Wendy Introne

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Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing by Darren J. Walsh, David J. Bernard, Faith Pangilinan, Madison Esposito, Denise Harold, Anne Parle-McDermott, Lawrence C. Brody

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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome by Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan

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A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease by Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky

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Primary oxidative phosphorylation defects lead to perturbations in the human B cell repertoire by Eliza M. Gordon-Lipkin, Payal Banerjee, Jose Luis Marin Franco, Tatiana Tarasenko, Shannon Kruk, Elizabeth Thompson, Derek E. Gildea, Suiyuan Zhang, Tyra G. Wolfsberg, NISC Comparative Sequencing Program, Willy A. Flegel, Peter J. McGuire

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Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy by Jason R. McFadden, Christina Deanne P. Tolete, Yan Huang, Ellen Macnamara, David Sept, Galina Nesterova, William A. Gahl, Dan L. Sackett, May Christine V. Malicdan

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Native Hawaiian and Pacific Islander populations in genomic research by Edra K. Ha, Daniel Shriner, Shawneequa L. Callier, Lorinda Riley, Adebowale A. Adeyemo, Charles N. Rotimi, Amy R. Bentley

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Lipidomics profiling and circulating triglyceride concentrations in sub-Saharan African individuals by Amy R. Bentley, Ayo P. Doumatey, Jie Zhou, Lin Lei, Karlijn A. C. Meeks, Elisabeth F. Heuston, Charles N. Rotimi, Adebowale A. Adeyemo

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Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans by Adebowale eAdeyemo, Fasil eTekola-Ayele, Ayo Priscille Doumatey, Amy R Bentley, Guanjie eChen, Hanxia eHuang, Jie eZhou, Daniel eShriner, Olufemi eFasanmade, Godfrey eOkafor, Benjamin eEghan, Kofi eAgyenim-Boateng, Jokotade eAdeleye, Williams eBalogun, Abdel eElkahloun, Settara eChandrasekharappa, Samuel eOwusu, Albert eAmoah, Joseph eAcheampong, Thomas eJohnson, Johnnie eOli, Clement eAdebamowo, Francis eCollins, Georgia eDunston, Charles eRotimi

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Optimized methods for scRNA-seq and snRNA-seq of skeletal muscle stored in nucleic acid stabilizing preservative by Elisabeth F. Heuston, Ayo P. Doumatey, Faiza Naz, Shamima Islam, Stacie Anderson, Martha R. Kirby, Stephen Wincovitch, Stefania Dell’Orso, Charles N. Rotimi, Adebowale A. Adeyemo

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Genetic variants associated with Hermansky-Pudlak syndrome by Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico

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