Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Jonathan W. Heusel"'
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
Publikováno v:
Practical Laboratory Medicine, Vol 21, Iss , Pp e00170- (2020)
Objectives: In 2017, AMP, ASCO and CAP jointly published the first formalized classification system for the interpretation and reporting of sequence variants in cancer. The challenges of incorporating new variant interpretation guidelines into existi
Externí odkaz:
https://doaj.org/article/889997bfc73a48d483354668fef16976
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Natural killer (NK) cells are vital components of the antiviral immune response, but their contributions in defense against influenza A virus (IAV) are not well understood. To better understand NK cell responses during IAV infections, we examined the
Externí odkaz:
https://doaj.org/article/bcd3cd25370e48628a9a6acbdc8fb849
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:
Donald J. Corsmeier, Michael J. Evenson, Katinka Vigh-Conrad, Vincent Magrini, Beth A. Drolet, Nicole R. Bender, Robert K. Semple, Matthew Avenarius, Andrea L. Zaenglein, Jeffrey N. Dudley, Meagan Corliss, Jonathan W. Heusel, Ilona J. Frieden, Jennifer J. Johnston, Carrie C. Coughlin, Catherine E. Cottrell, Heather Ciliberto, Laura L. Tosi, Leslie G. Biesecker, Marjorie J. Lindhurst, Megha M. Tollefson, Olivia M. T. Davies, Michael T. Zimmermann
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 10
Cottrell, C E, Bender, N R, Zimmermann, M, Heusel, J, Corliss, M, Evenson, M, Magrini, V, Corsmeier, D J, Avenarius, M, Dudley, J N, Johnston, J, Lindhurst, M J, Vigh-Conrad, K, Davies, O M T, Coughlin, C C, Frieden, I J, Tollefson, M, Zaenglein, A L, Ciliberto, H, Tosi, L L, Semple, R K, Biesecker, L G & Drolet, B A 2021, ' Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01211-z
Genetics in Medicine
Cottrell, C E, Bender, N R, Zimmermann, M, Heusel, J, Corliss, M, Evenson, M, Magrini, V, Corsmeier, D J, Avenarius, M, Dudley, J N, Johnston, J, Lindhurst, M J, Vigh-Conrad, K, Davies, O M T, Coughlin, C C, Frieden, I J, Tollefson, M, Zaenglein, A L, Ciliberto, H, Tosi, L L, Semple, R K, Biesecker, L G & Drolet, B A 2021, ' Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01211-z
Genetics in Medicine
Author(s): Cottrell, Catherine E; Bender, Nicole R; Zimmermann, Michael T; Heusel, Jonathan W; Corliss, Meagan; Evenson, Michael J; Magrini, Vincent; Corsmeier, Donald J; Avenarius, Matthew; Dudley, Jeffrey N; Johnston, Jennifer J; Lindhurst, Marjori
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42821ecb36ee327aba37106bd604701
https://doi.org/10.1038/s41436-021-01211-z
https://doi.org/10.1038/s41436-021-01211-z
Autor:
Ying-Chen Claire Hou, Michael J. Evenson, Meagan M. Corliss, Lily Mahapatra, Ali Aldawood, David F. Carpentieri, Sarah L. Chamlin, Ann M. Kulungowski, Suneeta Madan-Khetarpal, Jessica Sebastian, Mitchell A. Pet, Carrie C. Coughlin, Marcia C. Willing, Gregory D. Pearson, Bhuvana A. Setty, Zaki El-Haffaf, Catherine E. Cottrell, Bijal A. Parikh, Kilannin Krysiak, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich, Yang Cao
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
RAS genes (HRAS, KRAS, and NRAS) are commonly mutated genes in cancer, and activating RAS variants are also found in disorders of somatic mosaicism (DoSM). A survey of the mutational spectrum of RAS variants in DoSM has not been performed.A total of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d429537fa53be6bd490346ff361439a6
https://pubmed.ncbi.nlm.nih.gov/36571464
https://pubmed.ncbi.nlm.nih.gov/36571464
Autor:
Jennifer M. Yoest, Eric J. Duncavage, Samantha N. McNulty, Meaghan Riley, John D. Pfeifer, Michael J. Evenson, Meagan Corliss, Jonathan W. Heusel
Publikováno v:
The Journal of Molecular Diagnostics. 23:200-211
Severe congenital neutropenia (SCN) is a collection of diverse disorders characterized by chronically low absolute neutrophil count in the peripheral blood, increased susceptibility to infection, and a significant predisposition to the development of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e428c5c18dcdeedef856ae222a1a562c
https://doi.org/10.1016/j.jmoldx.2020.10.014
https://doi.org/10.1016/j.jmoldx.2020.10.014
Autor:
Peter H Yang, Yu Tao, Jingqin Luo, Mounica Paturu, Hsiang-Chih Lu, Shakti Ramkissoon, Jonathan W Heusel, Eric C Leuthardt, Michael R Chicoine, Joshua L Dowling, Gavin P Dunn, Eric Duncavage, Sonika Dahiya, Arindam R Chattherjee, Albert H Kim
Publikováno v:
Neuro-Oncology Advances. 4
Background Many factors impact survival in patients with glioblastoma, including age, Karnofsky Performance Status, postoperative chemoradiation, IDH1/2 mutation status, MGMT promoter methylation status, and extent of resection. High-throughput next-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85cda06ea121e57ec07da222a388db5f
https://doi.org/10.1093/noajnl/vdac002
https://doi.org/10.1093/noajnl/vdac002
Autor:
Yi-Shan Lee, Molly C Schroeder, Michael J. Evenson, Beth A. Drolet, Meagan Corliss, Jonathan W. Heusel, Catherine E. Cottrell, Julie Neidich, Samantha N. McNulty, Yang Cao, Latisha Love-Gregory
Publikováno v:
The American Journal of Human Genetics. 105:734-746
Disorders of somatic mosaicism (DoSM) are a diverse group of syndromic and non-syndromic conditions caused by mosaic variants in genes that regulate cell survival and proliferation. Despite overlap in gene space and technical requirements, few clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a538b3f6fa1ed9e988da01fe0311e989
https://doi.org/10.1016/j.ajhg.2019.09.002
https://doi.org/10.1016/j.ajhg.2019.09.002