Search Results - Jones, Julie R.

Novel Mutation in TP63 Associated with Ectrodactyly Ectodermal Dysplasia and Clefting Syndrome and T cell Lymphopenia by Giampietro, Philip F., Baker, Mei W., Basehore, Monica J., Jones, Julie R., Seroogy, Christine M.

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A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes by Gershlick, David C, Ishida, Morié, Jones, Julie R, Bellomo, Allison, Bonifacino, Juan S, Everman, David B

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Epithelial P2X purinergic receptor channel expression and function by Taylor, Amanda L., Schwiebert, Lisa M., Smith, Jeffrey J., King, Chris, Jones, Julie R., Sorscher, Eric J., Schwiebert, Erik M.

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A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies by Labonne, Jonathan D. J., Graves, Tyler D., Shen, Yiping, Jones, Julie R., Kong, Il-Keun, Layman, Lawrence C., Kim, Hyung-Goo

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Lessons from a pair of siblings with BPAN by Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C

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Lessons from a pair of siblings with BPAN by Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C

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Deletion of PPARγ in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance by Jones, Julie R., Barrick, Cordelia, Kim, Kyoung-Ah, Lindner, Jill, Blondeau, Bertrand, Fujimoto, Yuka, Shiota, Masakazu, Kesterson, Robert A., Kahn, Barbara B., Magnuson, Mark A.

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Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort by Ha, Kyungsoo, Anand, Priya, Lee, Jennifer A., Jones, Julie R., Kim, Chong Ae, Bertola, Debora Romeo, Labonne, Jonathan D. J., Layman, Lawrence C., Wenzel, Wolfgang, Kim, Hyung-Goo

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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 by 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.

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Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies by Lessel, Ivana, Chen, Mei-Jan, Lüttgen, Sabine, Arndt, Florian, Fuchs, Sigrid, Meien, Stefanie, Thiele, Holger, Jones, Julie R., Shaw, Brandon R., Crossman, David K., Nürnberg, Peter, Korf, Bruce R., Kubisch, Christian, Lessel, Davor

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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function by Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, van Woerden, Geeske M.

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De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features by Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.

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Novel Pathogenic Variants in FOXP3 in Fetuses with Echogenic Bowel and Skin Desquamation Identified by Ultrasound by Louie, Raymond J., Tan, Queenie K.-G., Gilner, Jennifer B., Rogers, R. Curtis, Younge, Noelle, Wechsler, Stephanie B., McDonald, Marie T., Gordon, Barbara, Saski, Christopher A., Jones, Julie R., Chapman, Shelley J., Stevenson, Roger E., Sleasman, John W., Friez, Michael J.

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Expanding the Clinical and Metabolic Phenotype of DPM2 deficient Congenital Disorders of Glycosylation by Radenkovic, Silvia, Fitzpatrick-Schmidt, Taylor, Byeon, Seul Kee, Madugundu, Anil K., Saraswat, Mayank, Lichty, Angie, Wong, Sunnie YW, McGee, Stephen, Kubiak, Katharine, Ligezka, Anna, Ranatunga, Wasantha, Zhang, Yuebo, Wood, Tim, Friez, Michael J, Clarkson, Katie, Pandey, Akhilesh, Jones, Julie R, Morava, Eva

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene by Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer‐Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes by Reijnders, Margot R.F., Ansor, Nurhuda M., Kousi, Maria, Yue, Wyatt W., Tan, Perciliz L., Clarkson, Katie, Clayton-Smith, Jill, Corning, Ken, Jones, Julie R., Lam, Wayne W.K., Mancini, Grazia M.S., Marcelis, Carlo, Mohammed, Shehla, Pfundt, Rolph, Roifman, Maian, Cohn, Ronald, Chitayat, David, Millard, Tom H., Katsanis, Nicholas, Brunner, Han G., Banka, Siddharth

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Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1 by Castle, Alison M.R., Salian, Smrithi, Bassan, Haim, Sofrin-Drucker, Efrat, Cusmai, Raffaella, Herman, Kristin C., Heron, Delphine, Keren, Boris, Johnstone, Devon L., Mears, Wendy, Morlot, Susanne, Nguyen, Thi Tuyet Mai, Rock, Rachel, Stolerman, Elliot, Russo, Julia, Burns, William Boyce, Jones, Julie R., Serpieri, Valentina, Wallaschek, Hannah, Zanni, Ginevra, Dyment, David A., Campeau, Philippe M.

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia by 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.

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability and autism spectrum disorder by Scott, Tiana M., Guo, Hui, Eichler, Evan E., Rosenfeld, Jill A., Pang, Kaifang, Liu, Zhandong, Lalani, Seema, Weimin, Bi, Yang, Yaping, Bacino, Carlos A., Streff, Haley, Lewis, Andrea M., Koenig, Mary K., Thiffault, Isabelle, Bellomo, Allison, Everman, David B., Jones, Julie R., Stevenson, Roger E., Bernier, Raphael, Gilissen, Christian, Pfundt, Rolph, Hiatt, Susan M., Cooper, Gregory M., Holder, Jimmy L., Scott, Daryl A.

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Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome by Hijazi, Hadia, Coelho, Fernanda S., Gonzaga-Jauregui, Claudia, Bernardini, Laura, Mar, Soe S., Manning, Melanie A., Hanson-Kahn, Andrea, Naidu, SakkuBai, Srivastava, Siddharth, Lee, Jennifer A., Jones, Julie R., Friez, Michael J., Alberico, Thomas, Torres, Barbara, Fang, Ping, Cheung, Sau Wai, Song, Xiaofei, Davis-Williams, Angelique, Jornlin, Carly, Wight, Patricia A., Patyal, Pankaj, Taube, Jennifer, Poretti, Andrea, Inoue, Ken, Zhang, Feng, Pehlivan, Davut, Carvalho, Claudia M.B., Hobson, Grace M., Lupski, James R.

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