Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Joel A. Morales-Rosado"'
Autor:
Erica L. Macke, Joel A. Morales‐Rosado, Sarah K. Macklin‐Mantia, Christopher T. Schmitz, Björn Oskarsson, Eric W. Klee, Klaas J. Wierenga
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Achalasia‐addisonianism‐alacrima syndrome, frequently referred to as Allgrove syndrome or Triple A syndrome, is a multisystem disorder resulting from homozygous or compound heterozygous pathogenic variants in the gene encoding
Externí odkaz:
https://doaj.org/article/df4c2837aabc49f0ad116b97a6d2a9ba
Autor:
Katelynn M. Wilton, Joel A. Morales‐Rosado, Duygu Selcen, Karthik Muthusamy, Sarah Ewing, Katherine Agre, Katherine Nickels, Eric W. Klee, Mai‐Lan Ho, Eva Morava
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 22-28 (2020)
Abstract Mitochondria play a variety of roles in the cell, far beyond their widely recognized role in ATP generation. One such role is the regulation and sequestration of calcium, which is done with the help of the mitochondrial calcium uniporter (MC
Externí odkaz:
https://doaj.org/article/c12755637963483b8b2f5522ea83d79e
Autor:
Joel A. Morales‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background RNA polymerase III (Pol III)‐related disorders are autosomal recessive neurodegenerative disorders caused by variants in POLR3A or POLR3B. Recently, a novel phenotype of adult‐onset spastic ataxia was identified in individuals
Externí odkaz:
https://doaj.org/article/83e4ede0e8cf4af8bc5a56a908184691
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Autor:
Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee
Publikováno v:
The American Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c499b888e214073eb018b6346f98d839
https://doi.org/10.1016/j.ajhg.2023.04.006
https://doi.org/10.1016/j.ajhg.2023.04.006
Autor:
Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
Publikováno v:
Genetics in Medicine. 25:100359
Purpose Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed701e7ad61196d0260a02ac5deae04a
https://doi.org/10.1016/j.gim.2022.12.006
https://doi.org/10.1016/j.gim.2022.12.006
Autor:
Alberto G. Ayala, Ross A. Miller, Paloma del C. Monroig-Bosque, Timothy Craig Allen, Cesar A. Moran, Roberto Barrios, Mary Beth Beasley, Yimin Ge, Jae Y. Ro, Anja C. Roden, Philip T. Cagle, Lynette M. Sholl, Henry D. Tazelaar, Maxwell L. Smith, Alain C. Borczuk, Joel A. Morales-Rosado, Andrew Churg, Neda Kalhor, Brandon T. Larsen, Kirtee Raparia
Publikováno v:
Annals of Diagnostic Pathology. 41:43-50
Context Invasive micropapillary adenocarcinoma (MPC) is an aggressive variant of lung adenocarcinoma, frequently manifesting with advanced stage lymph node metastasis and decreased survival. Objective Identification of this morphology is important, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471fdfef3cbe6f6188e09b0ebac02435
https://doi.org/10.1016/j.anndiagpath.2019.04.008
https://doi.org/10.1016/j.anndiagpath.2019.04.008
Autor:
Herchran Singh, Joel A. Morales-Rosado, Brandon T. Larsen, Rory J. Olson, Megan M. Hager, Radhika Dhamija, Eric W. Klee
Publikováno v:
American Journal of Medical Genetics Part A.
Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in PTPN11, which encodes the protein tyrosine phosphatase SHP-2. Gain-of-function variants in PTPN11 are known to pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1e7c3c30329afff81d06547e4faf797
https://doi.org/10.1002/ajmg.a.62178
https://doi.org/10.1002/ajmg.a.62178
Autor:
Joel A. Morales‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee
Publikováno v:
Molecular Genetics & Genomic Medicine. 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b922c10d4ef7c66e6de241527c8b4d04
https://doi.org/10.1002/mgg3.1511
https://doi.org/10.1002/mgg3.1511
Autor:
Lars Wallentin, Stephen Johnson, Robert F. Storey, Naveen L. Pereira, Shaun G. Goodman, Liewei Wang, Suzette J. Bielinski, Véronique L. Roger, John L. Black, Lingxin Zhang, Eric W. Klee, Gregory D. Jenkins, Saurabh Baheti, Joel A. Morales-Rosado, Axel Åkerblom, Bruce W. Eckloff, Kashish Goel, Hugues Sicotte, Stefan James, Charanjit S. Rihal, Niclas Eriksson, Richard M. Weinshilboum
Publikováno v:
Cardiovasc Drugs Ther
PURPOSE: Describe CYP2C19 sequencing results in the largest series of clopidogrel-treated cases with stent thrombosis (ST), the closest clinical phenotype to clopidogrel resistance. Evaluate the impact of CYP2C19 genetic variation detected by next-ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025ca543524c15ffeade10f23dd00f43
https://pubmed.ncbi.nlm.nih.gov/32623598
https://pubmed.ncbi.nlm.nih.gov/32623598
Autor:
Brendan C. Lanpher, Aditi Gupta, Joel A. Morales-Rosado, Teresa M. Kruisselbrink, Erica L. Macke, Eric W. Klee, Christopher T. Schmitz
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Pathogenic variants in the XPC complex subunit, DNA damage recognition, and repair factor (XPC) are the cause of xeroderma pigmentosum, group C (MIM: 278720). Xeroderma pigmentosum is an inherited condition characterized by hypersensitivity to ultrav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2903c19a1546c94b8e3b5ef35c3f59f8
https://pubmed.ncbi.nlm.nih.gov/32843428
https://pubmed.ncbi.nlm.nih.gov/32843428