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Material Type: Artigo
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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersSadikovic, Bekim ; Levy, Michael A. ; Kerkhof, Jennifer ; Aref-Eshghi, Erfan ; Schenkel, Laila ; Stuart, Alan ; McConkey, Haley ; Henneman, Peter ; Venema, Andrea ; Schwartz, Charles E. ; Stevenson, Roger E. ; Skinner, Steven A. ; DuPont, Barbara R. ; Fletcher, Robin S. ; Balci, Tugce B. ; Siu, Victoria Mok ; Granadillo, Jorge L. ; Masters, Jennefer ; Kadour, Mike ; Friez, Michael J. ; van Haelst, Mieke M. ; Mannens, Marcel M.A.M. ; Louie, Raymond J. ; Lee, Jennifer A. ; Tedder, Matthew L. ; Alders, MarielleGenetics in medicine, 2021-06, Vol.23 (6), p.1065-1074 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Material Type: Artigo
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ACMG clinical laboratory standards for next-generation sequencingRehm, Heidi L. ; Bale, Sherri J. ; Bayrak-Toydemir, Pinar ; Berg, Jonathan S. ; Brown, Kerry K. ; Deignan, Joshua L. ; Friez, Michael J. ; Funke, Birgit H. ; Hegde, Madhuri R. ; Lyon, ElaineGenetics in medicine, 2013-09, Vol.15 (9), p.733-747 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Material Type: Artigo
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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defectsSpellicy, Catherine J ; Norris, Joy ; Bend, Renee ; Bupp, Caleb ; Mester, Paul ; Reynolds, Tracy ; Dean, Jane ; Peng, Yunhui ; Alexov, Emil ; Schwartz, Charles E ; Stevenson, Roger S ; J Friez, MichaelEuropean journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.420-427 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual DisabilityVallianatos, Christina N ; Farrehi, Clara ; Friez, Michael J ; Burmeister, Margit ; Keegan, Catherine E ; Iwase, ShigekiFrontiers in molecular neuroscience, 2018-04, Vol.11, p.104-104 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Material Type: Artigo
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeBend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, BekimClinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?Spellicy, Catherine J ; Peng, Yunhui ; Olewiler, Leah ; Cathey, Sara S ; Rogers, R Curtis ; Bartholomew, Dennis ; Johnson, Jacob ; Alexov, Emil ; Lee, Jennifer A ; Friez, Michael J ; Jones, Julie RJournal of human genetics, 2019-06, Vol.64 (6), p.561-572 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ABronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur SEuropean journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian FailureSilber, Sherman J ; Lenahan, Kathleen M ; Levine, David J ; Pineda, Jorge A ; Gorman, Kim S ; Friez, Michael J ; Crawford, Eric C ; Gosden, Roger GThe New England journal of medicine, 2005-07, Vol.353 (1), p.58-63 [Periódico revisado por pares]Boston, MA: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeFriez, Michael J ; Risheg, Hiba ; Graham, John M ; Clark, Robin D ; Rogers, R Curtis ; Opitz, John M ; Moeschler, John B ; Peiffer, Andreas P ; May, Melanie ; Joseph, Sumy M ; Jones, Julie R ; Stevenson, Roger E ; Schwartz, Charles ENature genetics, 2007-04, Vol.39 (4), p.451-453 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28Friez, Michael J ; Jones, Julie R ; Clarkson, Katie ; Lubs, Herbert ; Abuelo, Dianne ; Bier, Jo-Ann Blaymore ; Pai, Shashidhar ; Simensen, Richard ; Williams, Charles ; Giampietro, Philip F ; Schwartz, Charles E ; Stevenson, Roger EPediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695 [Periódico revisado por pares]United States: Am Acad PediatricsTexto completo disponível |