The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function
Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, Woerden, Geeske M.
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
Pollard, Laura M., Jones, Julie R., Wood, Tim C.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
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Deletion of PPARγ in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance
Jones, J.R, Barrick, C, Kim, K.A, Lindner, J, Blondeau, B, Fujimoto, Y, Shiota, M, Kesterson, R.A, Kahn, B.B, Magnuson, M.A
Published in Proceedings of the National Academy of Sciences - PNAS (26.04.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (26.04.2005)
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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Zambonin, Jessica L, Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B, Frazer, Lee M, Geraghty, Michael T, Harper, Amy D, Jones, Julie R, Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R, Gibbons, Melissa, Collins, Abigail, Fogel, Brent L, Dudding-Byth, Tracy, Boycott, Kym M
Published in Orphanet journal of rare diseases (28.06.2017)
Published in Orphanet journal of rare diseases (28.06.2017)
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Bronicki, 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 S
Published in European journal of human genetics : EJHG (29.04.2015)
Published in European journal of human genetics : EJHG (29.04.2015)
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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Friez, 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 E
Published in Nature genetics (01.04.2007)
Published in Nature genetics (01.04.2007)
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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
Friez, 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 E
Published in Pediatrics (Evanston) (01.12.2006)
Published in Pediatrics (Evanston) (01.12.2006)
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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 R
Published in Journal of human genetics (01.06.2019)
Published in Journal of human genetics (01.06.2019)
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Improving the limit of detection for Sanger sequencing: A comparison of methodologies for KRAS variant detection
DAVIDSON, Colin J, ZERINGER, Emily, CHAMPION, Kristen J, GAUTHIER, Marie-Pierre, FAWN WANG, BOONYARATANAKORNKIT, Jerry, JONES, Julie R, SCHREIBER, Edgar
Published in BioTechniques (01.09.2012)
Published in BioTechniques (01.09.2012)
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RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen
Published in Clinical case reports (01.04.2023)
Published in Clinical case reports (01.04.2023)
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A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies
Labonne, Jonathan D J, Graves, Tyler D, Shen, Yiping, Jones, Julie R, Kong, Il-Keun, Layman, Lawrence C, Kim, Hyung-Goo
Published in BMC neurology (09.08.2016)
Published in BMC neurology (09.08.2016)
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A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
Abad, Clemer, Cook, Melissa M, Cao, Lei, Jones, Julie R, Rao, Nalini R, Dukes-Rimsky, Lynn, Pauly, Rini, Skinner, Cindy, Wang, Yunsheng, Luo, Feng, Stevenson, Roger E, Walz, Katherina, Srivastava, Anand K
Published in Biology (Basel, Switzerland) (24.05.2018)
Published in Biology (Basel, Switzerland) (24.05.2018)
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