The Role of the Parkinson's Disease Gene PARK9 in Essential Cellular Pathways and the Manganese Homeostasis Network in Yeast

por Chesi, Alessandra, Kilaru, Austin, Fang, Xiaodong, Cooper, Antony A., Gitler, Aaron D.
Publicado 2012

Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS

por Manduchi, Elisabetta, Chesi, Alessandra, Hall, Molly A., Grant, Struan F.A., Moore, Jason H.
Publicado 2018

Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS

por Sun, Zhihui, Diaz, Zamia, Fang, Xiaodong, Hart, Michael P., Chesi, Alessandra, Shorter, James, Gitler, Aaron D.
Publicado 2011

Inhibition of α-Synuclein Fibrillization by Dopamine Is Mediated by Interactions with Five C-Terminal Residues and with E83 in the NAC Region

por Herrera, Fernando E., Chesi, Alessandra, Paleologou, Katerina E., Schmid, Adrian, Munoz, Adriana, Vendruscolo, Michele, Gustincich, Stefano, Lashuel, Hilal A., Carloni, Paolo
Publicado 2008

CRISPR‐Cas9–Mediated Genome Editing Confirms EPDR1 as an Effector Gene at the BMD GWAS‐Implicated ‘STARD3NL’ Locus

por Pippin, James A, Chesi, Alessandra, Wagley, Yadav, Su, Chun, Pahl, Matthew C, Hodge, Kenyaita M, Johnson, Matthew E, Wells, Andrew D, Hankenson, Kurt D, Grant, Struan F A
Publicado 2021

Genetic Potential and Height Velocity during Childhood and Adolescence do not Fully Account for Shorter Stature in Cystic Fibrosis.

por Zysman-Colman, Zofia N., Kilberg, Marissa J., Harrison, Victor S., Chesi, Alessandra, Grant, Struan F. A., Mitchell, Jonathan, Sheikh, Saba, Hadjiliadis, Denis, Rickels, Michael R., Rubenstein, Ronald C., Kelly, Andrea
Publicado 2020

SUN-LB090 Accounting for Skeletal Maturation in the Assessment of Pediatric Bone Mineral Density

por McCormack, Shana, Kelly, Andrea, Mitchell, Jonathan, Cousminer, Diana, Chesi, Alessandra, Kindler, Joseph, Kalkwarf, Heidi, Lappe, Joan, Gilsanz, Vicente, Oberfield, Sharon, Shepherd, John, Mahboubi, Soroosh, Winer, Karen, Grant, Struan, Zemel, Babette
Publicado 2019

Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density

por Chesi, Alessandra, Wagley, Yadav, Johnson, Matthew E., Manduchi, Elisabetta, Su, Chun, Lu, Sumei, Leonard, Michelle E., Hodge, Kenyaita M., Pippin, James A., Hankenson, Kurt D., Wells, Andrew D., Grant, Struan F. A.
Publicado 2019

Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3’ UTR of FAIM2

por Littleton, Sheridan H., Trang, Khanh B., Volpe, Christina M., Cook, Kieona, DeBruyne, Nicole, Ann Maguire, Jean, Ann Weidekamp, Mary, Boehm, Keith, Chesi, Alessandra, Pippin, James A., Anderson, Stewart A., Wells, Andrew D., Pahl, Matthew C., Grant, Struan F.A.
Publicado 2023

Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells

por Su, Chun, Johnson, Matthew E., Torres, Annabel, Thomas, Rajan M., Manduchi, Elisabetta, Sharma, Prabhat, Mehra, Parul, Le Coz, Carole, Leonard, Michelle E., Lu, Sumei, Hodge, Kenyaita M., Chesi, Alessandra, Pippin, James, Romberg, Neil, Grant, Struan F. A., Wells, Andrew D.
Publicado 2020

Implicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types

por Pahl, Matthew C., Le Coz, Carole, Su, Chun, Sharma, Prabhat, Thomas, Rajan M., Pippin, James A., Cruz Cabrera, Emylette, Johnson, Matthew E., Leonard, Michelle E., Lu, Sumei, Chesi, Alessandra, Sullivan, Kathleen E., Romberg, Neil, Grant, Struan F. A., Wells, Andrew D.
Publicado 2022

Variant-to-gene mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as a regulator of sleep

por Palermo, Justin, Chesi, Alessandra, Zimmerman, Amber, Sonti, Shilpa, Pahl, Matthew C., Lasconi, Chiara, Brown, Elizabeth B., Pippin, James A., Wells, Andrew D., Doldur-Balli, Fusun, Mazzotti, Diego R., Pack, Allan I., Gehrman, Phillip R., Grant, Struan F.A., Keene, Alex C.
Publicado 2023

Perturbation of the insomnia WDR90 GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, PIG-Q

por Sonti, Shilpa, Littleton, Sheridan H., Pahl, Matthew C., Zimmerman, Amber J., Chesi, Alessandra, Palermo, Justin, Lasconi, Chiara, Brown, Elizabeth B., Pippin, James A., Wells, Andrew D., Doldur-Balli, Fusun, Pack, Allan I., Gehrman, Phillip R., Keene, Alex C., Grant, S.F.A.
Publicado 2023

Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes

por Mishra, Rajashree, Chesi, Alessandra, Cousminer, Diana L., Hawa, Mohammad I., Bradfield, Jonathan P., Hodge, Kenyaita M., Guy, Vanessa C., Hakonarson, Hakon, Mauricio, Didac, Schloot, Nanette C., Yderstræde, Knud B., Voight, Benjamin F., Schwartz, Stanley, Boehm, Bernhard O., Leslie, Richard David, Grant, Struan F. A.
Publicado 2017

Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci

por Hammond, Reza K, Pahl, Matthew C, Su, Chun, Cousminer, Diana L, Leonard, Michelle E, Lu, Sumei, Doege, Claudia A, Wagley, Yadav, Hodge, Kenyaita M, Lasconi, Chiara, Johnson, Matthew E, Pippin, James A, Hankenson, Kurt D, Leibel, Rudolph L, Chesi, Alessandra, Wells, Andrew D, Grant, Struan FA
Publicado 2021

BMD Loci Contribute to Ethnic and Developmental Differences in Skeletal Fragility across Populations: Assessment of Evolutionary Selection Pressures

por Medina-Gómez, Carolina, Chesi, Alessandra, Heppe, Denise H.M., Zemel, Babette S., Yin, Jia-Lian, Kalkwarf, Heidi J., Hofman, Albert, Lappe, Joan M., Kelly, Andrea, Kayser, Manfred, Oberfield, Sharon E., Gilsanz, Vicente, Uitterlinden, André G., Shepherd, John A., Jaddoe, Vincent W.V., Grant, Struan F.A., Lao, Oscar, Rivadeneira, Fernando
Publicado 2015

Variant-to-Gene-Mapping Analyses Reveal a Role for the Hypothalamus in Genetic Susceptibility to Inflammatory Bowel Disease

por Lasconi, Chiara, Pahl, Matthew C., Cousminer, Diana L., Doege, Claudia A., Chesi, Alessandra, Hodge, Kenyaita M., Leonard, Michelle E., Lu, Sumei, Johnson, Matthew E., Su, Chun, Hammond, Reza K., Pippin, James A., Terry, Natalie A., Ghanem, Louis R., Leibel, Rudolph L., Wells, Andrew D., Grant, Struan F.A.
Publicado 2020

Exome sequencing to identify de novo mutations in sporadic ALS trios

por Chesi, Alessandra, Staahl, Brett T., Jovicic, Ana, Couthouis, Julien, Fasolino, Maria, Raphael, Alya R., Yamazaki, Tomohiro, Elias, Laura, Polak, Meraida, Kelly, Crystal, Williams, Kelly L., Fifita, Jennifer A., Maragakis, Nicholas J., Nicholson, Garth A., King, Oliver D., Reed, Robin, Crabtree, Gerald R., Blair, Ian P., Glass, Jonathan D., Gitler, Aaron D.
Publicado 2013

Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver

por Çalışkan, Minal, Manduchi, Elisabetta, Rao, H. Shanker, Segert, Julian A., Beltrame, Marcia Holsbach, Trizzino, Marco, Park, YoSon, Baker, Samuel W., Chesi, Alessandra, Johnson, Matthew E., Hodge, Kenyaita M., Leonard, Michelle E., Loza, Baoli, Xin, Dong, Berrido, Andrea M., Hand, Nicholas J., Bauer, Robert C., Wells, Andrew D., Olthoff, Kim M., Shaked, Abraham, Rader, Daniel J., Grant, Struan F.A., Brown, Christopher D.
Publicado 2019

Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

por Pahl, Matthew C., Doege, Claudia A., Hodge, Kenyaita M., Littleton, Sheridan H., Leonard, Michelle E., Lu, Sumei, Rausch, Rick, Pippin, James A., De Rosa, Maria Caterina, Basak, Alisha, Bradfield, Jonathan P., Hammond, Reza K., Boehm, Keith, Berkowitz, Robert I., Lasconi, Chiara, Su, Chun, Chesi, Alessandra, Johnson, Matthew E., Wells, Andrew D., Voight, Benjamin F., Leibel, Rudolph L., Cousminer, Diana L., Grant, Struan F. A.
Publicado 2021