β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies von Kraan, Claudine M, Cornish, Kim M, Bui, Quang M, Li, Xin, Slater, Howard R, Godler, David E

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Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots von Inaba, Yoshimi, Schwartz, Charles E, Bui, Quang M, Li, Xin, Skinner, Cindy, Field, Michael, Wotton, Tiffany, Hagerman, Randi J, Francis, David, Amor, David J, Hopper, John L, Loesch, Danuta Z, Bretherton, Lesley, Slater, Howard R, Godler, David E

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Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis von Aliaga, Solange M, Slater, Howard R, Francis, David, Du Sart, Desiree, Li, Xin, Amor, David J, Alliende, Angelica M, Santa Maria, Lorena, Faundes, Víctor, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Curotto, Bianca, Godler, David E

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Methylation Analysis in Newborn Screening for Fragile X Syndrome von Godler, David E, Amor, David J, Slater, Howard R

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High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs von Slater, Howard R., Bailey, Dione K., Ren, Hua, Cao, Manqiu, Bell, Katrina, Nasioulas, Steven, Henke, Robert, Choo, K.H. Andy, Kennedy, Giulia C.

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Human Centromere Repositioning "In Progress" von Amor, David J., Bentley, Karen, Ryan, Jacinta, Perry, Jo, Wong, Lee, Slater, Howard, K. H. Andy Choo, Kunkel, Louis M.

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A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33 von Traylor, Ryan N, Bruno, Damien L, Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J, Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A, Theisen, Aaron, Torchia, Beth S, Shaffer, Lisa G, Ballif, Blake C, Slater, Howard R

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An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1) von Khaniani, Mahmoud S, Kalitsis, Paul, Burgess, Trent, Slater, Howard R

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Use of copy number deletion polymorphisms to assess DNA chimerism von Bruno, Damien L, Ganesamoorthy, Devika, Thorne, Natalie P, Ling, Ling, Bahlo, Melanie, Forrest, Sue, Veenendaal, Marieke, Katerelos, Marina, Skene, Alison, Ierino, Frank L, Power, David A, Slater, Howard R

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Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction von Stark, Zornitza, Francis, David, Gaffney, Lydia, Greenberg, Jacqueline, Hills, Louise, Li, Xin, Godler, David E., Slater, Howard R.

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Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study von GODLER, David E, SLATER, Howard R, AMOR, David J, HAGERMAN, Randi J, LOESCH, Danuta Z, BUI, Quang M, STOREY, Elsdon, ONTO, Michele Y, GEHLING, Freya, INABA, Yoshimi, FRANCIS, David, HOPPER, John L, KINSELLA, Glynda

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Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for t... von Godler, David E, Inaba, Yoshimi, Shi, Elva Z, Skinner, Cindy, Bui, Quang M, Francis, David, Amor, David J, Hopper, John L, Loesch, Danuta Z, Hagerman, Randi J, Schwartz, Charles E, Slater, Howard R

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4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment von Yeung, Alison, Bruno, Damien, Scheffer, Ingrid E, Carranza, Daniel, Burgess, Trent, Slater, Howard R, Amor, David J

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A New Cosmological Model: Origin and Maintenance of the Universe von Mandelis, Andreas, Slater, Howard

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Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions von Burgess, Trent, Brown, Natasha J., Stark, Zornitza, Bruno, Damien L., Oertel, Ralph, Chong, Belinda, Calabro, Vanessa, Kornberg, Andrew, Sanderson, Christine, Kelly, Julian, Howell, Katherine B., Savarirayan, Ravi, Hinds, Rupert, Greenway, Anthea, Slater, Howard R., White, Susan M.

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A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study von Metcalfe, Sylvia, Jacques, Alice, Archibald, Alison, Burgess, Trent, Collins, Veronica, Henry, Anna, McNamee, Kathleen, Sheffield, Leslie, Slater, Howard, Wake, Samantha, Cohen, Jonathan

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Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome von Godler, David E., Slater, Howard R., Amor, David, Loesch, Danuta Z.

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Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome von Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, Gardner, R J McKinlay, Francke, Uta

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Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a techni... von Inaba, Yoshimi, Herlihy, Amy S., Schwartz, Charles E., Skinner, Cindy, Bui, Quang M., Cobb, Joanna, Shi, Elva Z., Francis, David, Arvaj, Alison, Amor, David J., Pope, Kate, Wotton, Tiffany, Cohen, Jonathan, Hewitt, Jacqueline K., Hagerman, Randi J., Metcalfe, Sylvia A., Hopper, John L., Loesch, Danuta Z., Slater, Howard R., Godler, David E.

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Sensorless Control of IM Based on Stator-Voltage MRAS for Limp-Home EV Applications von Dehghan-Azad, Ehsan, Gadoue, Shady, Atkinson, David, Slater, Howard, Barrass, Peter, Blaabjerg, Frede

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