Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Sebastian Akle"'
Autor:
Sung Chun, Sebastian Akle, Athanasios Teodosiadis, Brian E Cade, Heming Wang, Tamar Sofer, Daniel S Evans, Katie L Stone, Sina A Gharib, Sutapa Mukherjee, Lyle J Palmer, David Hillman, Jerome I Rotter, Craig L Hanis, John A Stamatoyannopoulos, Susan Redline, Chris Cotsapas, Shamil R Sunyaev
Publikováno v:
PLoS Genetics, Vol 18, Iss 12, p e1010557 (2022)
Genetic association studies of many heritable traits resulting from physiological testing often have modest sample sizes due to the cost and burden of the required phenotyping. This reduces statistical power and limits discovery of multiple genetic a
Externí odkaz:
https://doaj.org/article/bc1959622b014966849522ae2a35201b
Autor:
Jill A. Rosenfeld Mokry, Shamil R. Sunyaev, Erica E. Davis, Niki Mourtzi, Maria Kousi, Richard A. Lewis, Michael E. Talkowski, Azita Sadeghpour, Onuralp Soylemez, Maxim Y Wolf, Manolis Kellis, Nicholas Katsanis, Christopher A. Cassa, Jean Muller, Kelsey McFadden, Irwin Jungreis, Sebastian Akle, Aysegul Ozanturk, Hélène Dollfus, Harrison Brand
Publikováno v:
Nature Genetics. 52:1145-1150
The influence of genetic background on driver mutations is well established; however, the mechanisms by which the background interacts with Mendelian loci remain unclear. We performed a systematic secondary-variant burden analysis of two independent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18771b0748c82bdd25071e7ff47aff4c
https://doi.org/10.1038/s41588-020-0707-1
https://doi.org/10.1038/s41588-020-0707-1
Autor:
Isaac M. Oderberg, Arkadi Schwartz, Paul J. Wrighton, Wolfram Goessling, Gabriel D. Bossé, Daan Kloosterman, Sebastian Akle, Isaac Adatto, Isabelle Iversen, Kyle A. LaBella, Pouneh K. Fazeli, Matthew L. Steinhauser, Yariv Houvras, Randall T. Peterson, Allison Tsomides, Sahar Tavakoli, Michael E. Charness, Olivia Weeks
Publikováno v:
The Journal of Clinical Investigation
Prenatal alcohol exposure (PAE) affects at least 10% of newborns globally and leads to the development of fetal alcohol spectrum disorders (FASDs). Despite its high incidence, there is no consensus on the implications of PAE on metabolic disease risk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2fa0364e864932afc5c51d92619ada
https://doi.org/10.1172/jci132139
https://doi.org/10.1172/jci132139
Autor:
David W. Radke, Alzheimer’s Disease Neuroimaging Initiative, Robert C. Green, Sebastian Akle, Shamil R. Sunyaev, Daniel J. Balick, Jae Hoon Sul
Publikováno v:
Genome Res
Genomic deletions provide a powerful loss-of-function model in noncoding regions to assess the role of purifying selection on genetic variation. Regulatory element function is characterized by nonuniform tissue and cell type activity, necessarily lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39cacf8e508158d09e112751046493dd
https://europepmc.org/articles/PMC8168579/
https://europepmc.org/articles/PMC8168579/
Autor:
Jae Hoon Sul, Sebastian Akle, David W. Radke, Shamil R. Sunyaev, Alzheimer’s Disease Neuroimaging Initiative, Daniel J. Balick, Robert C. Green
Genomic deletions provide a powerful loss-of-function model in non-coding regions to assess the role of purifying selection on human noncoding genetic variation. Regulatory element function is char-acterized by non-uniform tissue/cell-type activity,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0640312d1e05a340d3d723398e0072f
https://doi.org/10.1101/2020.05.19.105205
https://doi.org/10.1101/2020.05.19.105205
Autor:
Sebastian Akle, Sung Chun, Jerome I. Rotter, Katie L. Stone, Athanasios Teodosiadis, Sina A. Gharib, David R. Hillman, Lyle J. Palmer, Chris Cotsapas, Susan Redline, John A. Stamatoyannopoulos, Shamil R. Sunyaev, Daniel S. Evans, Heming Wang, Brian E. Cade, Tamar Sofer, Sutapa Mukherjee
Genetic association studies of many heritable traits resulting from physiological testing often have modest sample sizes due to the cost and burden of the required phenotyping. This reduces statistical power and limits discovery of multiple genetic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6667503fd3a8424312610e94cc2fbe3e
Autor:
Maria, Kousi, Onuralp, Söylemez, Aysegül, Ozanturk, Niki, Mourtzi, Sebastian, Akle, Irwin, Jungreis, Jean, Muller, Christopher A, Cassa, Harrison, Brand, Jill Anne, Mokry, Maxim Y, Wolf, Azita, Sadeghpour, Kelsey, McFadden, Richard A, Lewis, Michael E, Talkowski, Hélène, Dollfus, Manolis, Kellis, Erica E, Davis, Shamil R, Sunyaev, Nicholas, Katsanis
Publikováno v:
Nature genetics. 52(11)
The influence of genetic background on driver mutations is well established; however, the mechanisms by which the background interacts with Mendelian loci remain unclear. We performed a systematic secondary-variant burden analysis of two independent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c604af8906b394ba23ab1f2230eed0ad
https://pubmed.ncbi.nlm.nih.gov/33093658
https://pubmed.ncbi.nlm.nih.gov/33093658
Publikováno v:
Human mutation. 36(10)
Clinical sequencing is expanding, but causal variants are still not identified in the majority of cases. These unsolved cases can aid in gene discovery when individuals with similar phenotypes are identified in systems such as the Matchmaker Exchange
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80dc849173e0a1c0ece6cff7ba538372
https://pubmed.ncbi.nlm.nih.gov/26378430
https://pubmed.ncbi.nlm.nih.gov/26378430
Publikováno v:
Cold Spring Harbor Molecular Case Studies
The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases [“N of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52bc4ea2b933f686bfdd365820fe9082
https://doi.org/10.1101/mcs.a001099
https://doi.org/10.1101/mcs.a001099
Autor:
Vivianna M. Van Deerlin, Murray Grossman, Michael D. Gallagher, Virginia M.-Y. Lee, Alice Chen-Plotkin, Sebastian Akle, Laura A. Volpicelli-Daley, Emily Bill, Linda K. Kwong, John Q. Trojanowski, Travis L. Unger, Johanna I. Busch
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience. 32(33)
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a fatal neurodegenerative disease with no available treatments. Mutations in the progranulin gene (GRN) causing impaired production or secretion of progranulin are a common Mendel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::197d7c09483e77eefc34ae63019c1401
https://pubmed.ncbi.nlm.nih.gov/22895706
https://pubmed.ncbi.nlm.nih.gov/22895706