Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Julie A, Neidich"'
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:
Michael R. Sherby, Tyler J. Walsh, Albert M. Lai, Julie A. Neidich, Joyce E. Balls-Berry, Stephanie M. Morris, Richard Head, Christopher G. Prener, Jason G. Newland, Christina A. Gurnett, for the COMPASS-T Study Group
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Background Transmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less is known about transmission in schools for children with intellectual and developmental disabilities (IDD), who are often una
Externí odkaz:
https://doaj.org/article/b8f793957be04a279bcabb0a275ba6b4
Autor:
Patrick Dawson, Mary Claire Worrell, Sara Malone, Stephanie A. Fritz, Heather P. McLaughlin, Brock K. Montgomery, Mary Boyle, Ashley Gomel, Samantha Hayes, Brett Maricque, Albert M. Lai, Julie A. Neidich, Sarah C. Tinker, Justin S. Lee, Suxiang Tong, Rachel C. Orscheln, Rachel Charney, Terri Rebmann, Jon Mooney, Catherine Rains, Nancy Yoon, Machelle Petit, Katie Towns, Clay Goddard, Spring Schmidt, Lisa C. Barrios, John C. Neatherlin, Johanna S. Salzer, Jason G. Newland
Publikováno v:
PLoS ONE, Vol 17, Iss 10 (2022)
Objective To determine whether modified K–12 student quarantine policies that allow some students to continue in-person education during their quarantine period increase schoolwide SARS-CoV-2 transmission risk following the increase in cases in win
Externí odkaz:
https://doaj.org/article/357c1068ebcb43a99c6263bc66f84dad
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
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:
Patrick, Dawson, Mary Claire, Worrell, Sara, Malone, Sarah C, Tinker, Stephanie, Fritz, Brett, Maricque, Sadaf, Junaidi, Gemille, Purnell, Albert M, Lai, Julie A, Neidich, Justin S, Lee, Rachel C, Orscheln, Rachel, Charney, Terri, Rebmann, Jon, Mooney, Nancy, Yoon, Machelle, Petit, Spring, Schmidt, Jean, Grabeel, Lee Ann, Neill, Lisa C, Barrios, Snigdha, Vallabhaneni, Randall W, Williams, Clay, Goddard, Jason G, Newland, John C, Neatherlin, Johanna S, Salzer, Bettina, Bankamp
Publikováno v:
Morbidity and Mortality Weekly Report
Many kindergarten through grade 12 (K-12) schools offering in-person learning have adopted strategies to limit the spread of SARS-CoV-2, the virus that causes COVID-19 (1). These measures include mandating use of face masks, physical distancing in cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f9e1f5e7fa92faaebd9691929a961c
https://doi.org/10.15585/mmwr.mm7012e4
https://doi.org/10.15585/mmwr.mm7012e4
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:
Rebecca Procopio, Jose S. Pulido, Kammi B. Gunton, Zeba A. Syed, Daniel Lee, Mark L. Moster, Robert Sergott, Julie A. Neidich, Margaret M. Reynolds
Publikováno v:
Genes. 14:738
Importance: The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and glaucoma. Gene panels can vary in content and coverage, as we and o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa66a1a6b3f20019fb16c81cc1af1d1f
https://doi.org/10.3390/genes14030738
https://doi.org/10.3390/genes14030738
Autor:
Daniela N. Schweitzer, Ralph S. Lachman, Kelly A. Przylepa, John M. Graham, Alan L. Shanske, William R. Wilcox, Kelly Chen, Kazuki Okajima, Ethylin Wang Jabs, Julie A. Neidich
Publikováno v:
American Journal of Medical Genetics. 98:75-91
A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. At birth, individuals with this disorder h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::775872434cb8a313d2463649ba154aa3
https://doi.org/10.1002/1096-8628(20010101)98:1<75::aid-ajmg1010>3.0.co
https://doi.org/10.1002/1096-8628(20010101)98:1<75::aid-ajmg1010>3.0.co