Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Molly C, Schroeder"'
Autor:
Yang Cao, Michael J. Evenson, Meagan M. Corliss, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100807- (2023)
ABSTRACT: Purpose: Disorders of somatic mosaicism (DoSM) are a heterogeneous group of conditions caused by postzygotic variants in genes within the PI3K/AKT/mTOR and RAS/MAPK signaling pathway. The co-existence of 2 activating variants in this diseas
Externí odkaz:
https://doaj.org/article/6619bfa87b2b44f0b305d84cbb34c80e
Autor:
Bahareh A. Mojarad, Patricia V. Hernandez, Michael J. Evenson, Meagan M. Corliss, Sarah L. Stein, Amy Theos, Carrie C. Coughlin, Bryan Sisk, Maithilee Menezes, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich, Yang Cao
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100815- (2023)
Purpose: Variants in PIK3CA (encoding p110α; the catalytic subunit of PI3K) characterize some disorders of somatic mosaicism (DoSM) conditions with clinical features, including sporadic overgrowth and vascular malformations. Here, we profile PIK3CA
Externí odkaz:
https://doaj.org/article/8ea711a209f14e6298e7a8cde88994e4
Autor:
Rodrigo Tzovenos Starosta, Ying-Chen Claire Hou, Katelyn Leestma, Prapti Singh, Luke Viehl, Linda Manwaring, Jorge Luis Granadillo, Molly C. Schroeder, Jamie N. Colombo, Halana Whitehead, Patricia Irene Dickson, Monica L. Hulbert, Hoanh Thi Nguyen
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Infantile-onset Pompe disease (IOPD) is a rare, severe disorder of lysosomal storage of glycogen that leads to progressive cardiac and skeletal myopathy. IOPD is a fatal disease in childhood unless treated with enzyme replacement therapy (ERT) from a
Externí odkaz:
https://doaj.org/article/8867081790f748b895ba24c86ef84e8d
Autor:
Meagan Cochran, Kelly East, Veronica Greve, Melissa Kelly, Whitley Kelley, Troy Moore, Richard M. Myers, Katherine Odom, Molly C. Schroeder, David Bick
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Background Genome sequencing (GS) of individuals without a medical indication, known as elective GS, is now available at a number of centers around the United States. Here we report the results of elective GS and pharmacogenetic panel testin
Externí odkaz:
https://doaj.org/article/9f0c1ff95f7b4958ba5689827e1452c5
High‐depth next‐generation sequencing panel testing in the evaluation of arteriovenous malformations
Autor:
Patricia V. Hernandez, Katherine A. King, Michael J. Evenson, Meagan M. Corliss, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich, Yang Cao
Publikováno v:
American Journal of Medical Genetics Part A. 191:1518-1524
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf210fd39ab4a4edf5f1e71db202ed90
https://doi.org/10.1002/ajmg.a.63171
https://doi.org/10.1002/ajmg.a.63171
Autor:
Carina A, Dehner, Molly C, Schroeder, Yang, Lyu, Robert, Bell, Dana C, Borcherding, Tyler, Moon, Angela, Hirbe, John S A, Chrisinger
Publikováno v:
American Journal of Surgical Pathology. 47:326-332
Granular cell tumors (GrCT) were recently found to be driven by inactivating mutations in vacuolar H+-ATPase (V-ATPase) genes, most frequently ATP6AP1 and ATP6AP2. Multifocal presentation is present in ~10% of cases; however, the relationship between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06720bc0c1c7d2149cd45a0f1adead18
https://doi.org/10.1097/pas.0000000000001992
https://doi.org/10.1097/pas.0000000000001992
Autor:
Chiraag N Gangahar, Carina A Dehner, David P Wang, Behrang Amini, Travis Hillen, Christopher O'Conor, Sydney N Jennings, Kathleen Byrnes, Elizabeth A Montgomery, Bogdan A Czerniak, Julia A Bridge, Molly C Schroeder, Jack W Jennings, Wei‐Lien Wang, John S A Chrisinger
Publikováno v:
Histopathology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::619b3ec92da8dbbb7bed093e4c5db591
https://doi.org/10.1111/his.14928
https://doi.org/10.1111/his.14928
Publikováno v:
Human Mutation. 43:1519-1530
Characterizing the genomic landscape of cancers is a routine part of clinical care that began with the discovery of the Philadelphia chromosome and has since coevolved with genomic technologies. Genomic analysis of tumors at the nucleotide level usin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a898e843ad9b4ebea7dbe453dee4bde2
https://doi.org/10.1002/humu.24381
https://doi.org/10.1002/humu.24381
Autor:
Lulu, Sun, Molly C, Schroeder, Ian S, Hagemann, John D, Pfeifer, Julie K, Schwarz, Perry W, Grigsby, Stephanie, Markovina, Alexander J, Lin
Publikováno v:
International Journal of Gynecological Pathology. 41:628-635
There have been few clinically useful targetable biomarkers in uterine cervical carcinomas. Estrogen receptor (ER), HER2, and fibroblast activation protein (FAP) are potential therapeutic or theranostic targets in other gynecologic and genitourinary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c493c2818de7238878b1d13c9e31815
https://doi.org/10.1097/pgp.0000000000000853
https://doi.org/10.1097/pgp.0000000000000853
Autor:
Haley J. Abel, Karolyn A. Oetjen, Christopher A. Miller, Sai M. Ramakrishnan, Ryan B. Day, Nichole M. Helton, Catrina C. Fronick, Robert S. Fulton, Sharon E. Heath, Stefan P. Tarnawsky, Sridhar Nonavinkere Srivatsan, Eric J. Duncavage, Molly C. Schroeder, Jacqueline E. Payton, David H. Spencer, Matthew J. Walter, Peter Westervelt, John F. DiPersio, Timothy J. Ley, Daniel C. Link
Publikováno v:
medRxiv
TP53-mutated myeloid malignancies are most frequently associated with complex cytogenetics. The presence of complex and extensive structural variants complicates detailed genomic analysis by conventional clinical techniques. We performed whole genome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a44e327723fe5a17b6464bb984b726e7
