Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Devon Knight"'
Autor:
Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J. Barkovich, Yang Cao, Marina DiStefano, Michael Evenson, Renzo Guerrini, Devon Knight, Yi-Shan Lee, Heather C. Mefford, David T. Miller, Ghayda Mirzaa, Ganesh Mochida, Lance H. Rodan, Mayher Patel, Lacey Smith, Sara Spencer, Christopher A. Walsh, Edward Yang, Christopher J. Yuskaitis, Timothy Yu, Annapurna Poduri, Christelle Achkar, James Barkovich, Jamel Chelly, Elizabeth Engle, William Hong, Hyunyong Koh, Rhonda Lassiter, Eric Marsh, Rebecca Pinsky, Catherine Shain, Bo Yuan, Christopher Yuskaitis
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of distinct developmental abnormalities. Accurate classification of somatic variants in this group of disorders is crucial for affected individuals and their families.The ClinG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcbf172361e2b526e4e2fd2d07cb8f0b
https://pubmed.ncbi.nlm.nih.gov/35997716
https://pubmed.ncbi.nlm.nih.gov/35997716
Autor:
Andrew Quitadamo, Michael Field, Meredith Park, Pankaj B. Agrawal, Timothy W. Yu, Shira Rockowitz, Annapurna Poduri, Lily Li-Wen Wang, Scott B. Snapper, Lacey Smith, Beth Rosen Sheidley, Devon Knight, Catherine A. Brownstein, Alan H. Beggs, Mary Carmack, Nicholas LeCompte, Piotr Sliz, Emma Sexton, David A. Williams, Ingrid A. Holm, Susan Kornetsky
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-12 (2020)
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-12 (2020)
While genomic data is frequently collected under distinct research protocols and disparate clinical and research regimes, there is a benefit in streamlining sequencing strategies to create harmonized databases, particularly in the area of pediatric r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff67778d94c00a44ed0b911da636d8c9
http://europepmc.org/articles/PMC7338382
http://europepmc.org/articles/PMC7338382
Autor:
Mariano Avino, Jacob Ferguson, James Iansavitchous, Danish Mahmood, Kurt Clemmer, Michelle Lim, Carolina R. Batista, Rachel Creighton, Rodney P. DeKoter, Bruno R de Oliveira, Devon Knight
Publikováno v:
Mol Cell Biol
Paediatrics Publications
Paediatrics Publications
Precursor B cell acute lymphoblastic leukemia (B-ALL) is caused by genetic lesions in developing B cells that function as drivers for the accumulation of additional mutations in an evolutionary selection process. We investigated secondary drivers of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::861bbe2088d6844802799f894eca0392
https://pubmed.ncbi.nlm.nih.gov/32631903
https://pubmed.ncbi.nlm.nih.gov/32631903