Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising by Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico

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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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A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals by Guanjie Chen, Adebowale Adeyemo, Jie Zhou, Ayo P. Doumatey, Amy R. Bentley, Kenneth Ekoru, Daniel Shriner, Charles N. Rotimi

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ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response by Adebowale A. Adeyemo, Norann A. Zaghloul, Guanjie Chen, Ayo P. Doumatey, Carmen C. Leitch, Timothy L. Hostelley, Jessica E. Nesmith, Jie Zhou, Amy R. Bentley, Daniel Shriner, Olufemi Fasanmade, Godfrey Okafor, Benjamin Eghan, Kofi Agyenim-Boateng, Settara Chandrasekharappa, Jokotade Adeleye, William Balogun, Samuel Owusu, Albert Amoah, Joseph Acheampong, Thomas Johnson, Johnnie Oli, Clement Adebamowo, South Africa Zulu Type 2 Diabetes Case-Control Study, Francis Collins, Georgia Dunston, Charles N. Rotimi

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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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Cortico-striatal differences in the epigenome in attention-deficit/ hyperactivity disorder by Gauri G. Shastri, Gustavo Sudre, Kwangmi Ahn, Benjamin Jung, Bhaskar Kolachana, Pavan K. Auluck, Laura Elnitski, Stefano Marenco, Philip Shaw

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Induced pluripotent stem cell models of lysosomal storage disorders by Daniel K. Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky

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BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues by Luli S. Zou, Michael R. Erdos, D. Leland Taylor, Peter S. Chines, Arushi Varshney, The McDonnell Genome Institute, Stephen C. J. Parker, Francis S. Collins, John P. Didion

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Examining resilience of individuals living with sickle cell disease in the COVID-19 pandemic by Ashley J. Buscetta, Khadijah E. Abdallah, K. Jameson Floyd, Faeben S. Wossenseged, Corinne A. Conn, Hasmin C. Ramirez, Vence L. Bonham

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The genetic regulatory signature of type 2 diabetes in human skeletal muscle by Laura J. Scott, Michael R. Erdos, Jeroen R. Huyghe, Ryan P. Welch, Andrew T. Beck, Brooke N. Wolford, Peter S. Chines, John P. Didion, Narisu Narisu, Heather M. Stringham, D. Leland Taylor, Anne U. Jackson, Swarooparani Vadlamudi, Lori L. Bonnycastle, Leena Kinnunen, Jouko Saramies, Jouko Sundvall, Ricardo D'Oliveira Albanus, Anna Kiseleva, John Hensley, Gregory E. Crawford, Hui Jiang, Xiaoquan Wen, Richard M. Watanabe, Timo A. Lakka, Karen L. Mohlke, Markku Laakso, Jaakko Tuomilehto, Heikki A. Koistinen, Michael Boehnke, Francis S. Collins, Stephen C. J. Parker

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Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits by Karlijn A. C. Meeks, Amy R. Bentley, Mateus H. Gouveia, Guanjie Chen, Jie Zhou, Lin Lei, Adebowale A. Adeyemo, Ayo P. Doumatey, Charles N. Rotimi

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A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly by Claire L. Simpson, Danielle C. Kimble, Settara C. Chandrasekharappa, NISC Comparative Sequencing Program, Khalid Alqosayer, Emily Holzinger, Blake Carrington, John McElderry, Raman Sood, Ghiath Al‐Souqi, Hasan Albacha‐Hejazi, Joan E. Bailey‐Wilson

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The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort by Karyl S. Barron, Ivona Aksentijevich, Natalie T. Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird, Ariane Soldatos, Jenna Bergerson, Camilo Toro, Cornelia Cudrici, Michele Nehrebecky, Tina Romeo, Anne Jones, Manfred Boehm, Jennifer A. Kanakry, Dimana Dimitrova, Katherine R. Calvo, Hawwa Alao, Devika Kapuria, Gil Ben-Yakov, Dominique C. Pichard, Londa Hathaway, Alessandra Brofferio, Elisa McRae, Natalia Sampaio Moura, Oskar Schnappauf, Sofia Rosenzweig, Theo Heller, Edward W. Cowen, Daniel L. Kastner, Amanda K. Ombrello

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P134: Neuronal pathways by differential tractography correlate with clinical outcomes following gene therapy for GM1 gangliosidosis: New biomarker for neurodegenerative diseases* by Connor Lewis, Zeynep Vardar, Anna Kuhn, Jean Johnston, Precilla D'Souza, Mohamed Shazeeb, Cynthia Tifft, Maria Acosta

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P094: Clinical and MRI correlations in GM1 patients: Finding biomarkers to predict treatment response with gene therapy* by Maria T. Acosta, Zeynep Vardar, Precilla D'Souza, Jean Johnston, Anna Kuhn, Audrey Thurm, Cristan Farmer, Mohammed Shazeeb, Cynthia Tifft

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Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families by Claire L. Simpson, Anthony M. Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y. Cordero, Jennifer B. Cordero, Bilal A. Moiz, Emily R. Holzinger, Candace D. Middlebrooks, Deyana D. Lewis, Joan E. Bailey-Wilson, Dwight Stambolian

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Impact of Type 2 Diabetes on Impaired Kidney Function in Sub-Saharan African Populations by Sally N Adebamowo, Sally N Adebamowo, Adebowale eAdeyemo, Fasil eTekola-Ayele, Ayo Priscille Doumatey, Amy Rebecca Bentley, Guanjie eChen, Jie eZhou, Daniel eShriner, Olufemi Adetola Fasanmade, Godfrey eOkafor, Benjamin eEghan, Kofi eAgyenim-Boateng, Jokotade eAdeleye, Williams eBalogun, Albert eAmoah, Samuel eOwusu, Joseph eAcheampong, Thomas eJohnson, Johnnie eOli, Clement A Adebamowo, Clement A Adebamowo, Charles N Rotimi

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