Search Results - "Wise, Cheryl"

Haploinsufficiency of SF3B2 causes craniofacial microsomia by Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L., Schnur, Rhonda E., Slee, Jennie, Singer, Steven L., Staffenberg, David A., Timms, Andrew E., Wise, Cheryl A., Zarante, Ignacio, Saint-Jeannet, Jean-Pierre, Luquetti, Daniela V.

“…Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome…”
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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder by Szot, Justin O, Cuny, Hartmut, Martin, Ella Mma, Sheng, Delicia Z, Iyer, Kavitha, Portelli, Stephanie, Nguyen, Vivien, Gereis, Jessica M, Alankarage, Dimuthu, Chitayat, David, Chong, Karen, Wentzensen, Ingrid M, Vincent-Delormé, Catherine, Lermine, Alban, Burkitt-Wright, Emma, Ji, Weizhen, Jeffries, Lauren, Pais, Lynn S, Tan, Tiong Y, Pitt, James, Wise, Cheryl A, Wright, Helen, Andrews, Israel D, Pruniski, Brianna, Grebe, Theresa A, Corsten-Janssen, Nicole, Bouman, Katelijne, Poulton, Cathryn, Prakash, Supraja, Keren, Boris, Brown, Natasha J, Hunter, Matthew F, Heath, Oliver, Lakhani, Saquib A, McDermott, John H, Ascher, David B, Chapman, Gavin, Bozon, Kayleigh, Dunwoodie, Sally L

“…Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date, biallelic loss-of-function variants in 3 genes encoding nonredundant…”
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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience by Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.

“…Objective To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. Methods We designed two iterations of…”
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Departure from Neutrality at the Mitochondrial NADH Dehydrogenase Subunit 2 Gene in Humans, but Not in Chimpanzees by Wise, Cheryl A, Sraml, Michaela, Easteal, Simon

“…To test whether patterns of mitochondrial DNA (mtDNA) variation are consistent with a neutral model of molecular evolution, nucleotide sequences were…”
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The origins and genetic structure of three co-resident Chinese Muslim populations: the Salar, Bo'an and Dongxiang by WEI WANG, WISE, Cheryl, BARIC, Tom, BLACK, Michael L, BITTLES, Alan H

“…A genome-based investigation of three Muslim populations, the Salar, Bo'an, and Dongxiang, was conducted on 212 individuals (148 males, 64 females) co-resident…”
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The Prevalence and Molecular Basis of Hemoglobinopathies in Cambodia by Carnley, Benedict P., Prior, John F., Gilbert, Anne, Lim, Erna, Devenish, Robyn, Sing, Heng, Sarin, Eng, Guhadasan, Rathi, Sullivan, Sheena G., Wise, Cheryl A., Bittles, Alan H., Chan, Kaimin, Wong, Man-Sim, Chan, Vivian, Erber, Wendy N.

“…Blood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at…”
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A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry by Wise, Cheryl A., Paris, Maxime, Morar, Bharti, Wang, Wei, Kalaydjieva, Luba, Bittles, Alan H.

“…Analysis of single nucleotide polymorphisms (SNPs) has become an increasingly important area of research, with numerous applications in medical genetics,…”
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Y-chromosome and mitochondrial DNA studies on the population structure of the Christmas Island community by Wise, Cheryl A., Sullivan, Sheena G., Black, Michael L., Erber, Wendy N., Bittles, Alan H.

“…Christmas Island is a remote Australian territory located close to the main Indonesian island of Java. Y‐chromosome and mitochondrial DNA (mtDNA) markers were…”
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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation by Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Baker, Naomi, Baxter, Leanne, Beilby, John, Bennetts, Bruce, Beshay, Victoria, Black, Michael, Boughtwood, Tiffany F., Brion, Kristian, Cheong, Pak Leng, Christie, Michael, Christodoulou, John, Cox, Kathy, Davis, Mark R., Dejong, Lucas, Dinger, Marcel E., Doig, Kenneth D., Douglas, Evelyn, Dubowsky, Andrew, Ellul, Melissa, Fellowes, Andrew, Fisk, Katrina, Fortuno, Cristina, Friend, Kathryn, Gallagher, Renee L., Gao, Song, Hackett, Emma, Hadler, Johanna, Hipwell, Michael, Ho, Gladys, Hollway, Georgina, Hooper, Amanda J., Kassahn, Karin S., Krishnaraj, Rahul, Lau, Chiyan, Le, Huong, San Leong, Huei, Lundie, Ben, Lunke, Sebastian, Marty, Anthony, McPhillips, Mary, Nguyen, Lan T., Nones, Katia, Palmer, Kristen, Pearson, John V., Quinn, Michael C.J., Rawlings, Lesley H., Sadedin, Simon, Sanchez, Louisa, Schreiber, Andreas W., Sigalas, Emanouil, Simsek, Aygul, Soubrier, Julien, Stark, Zornitza, Thompson, Bryony A., U, James, Vakulin, Cassandra G., Wells, Amanda V., Wise, Cheryl A., Woods, Rick, Ziolkowski, Andrew, Brion, Marie-Jo, Scott, Hamish S., Thorne, Natalie P., Spurdle, Amanda B., Akesson, Lauren, Allcock, Richard, Ashton, Katie, Bell, Damon A., Brown, Anna, Buckley, Michael, Burrows, Linda, Byrne, Alicia, Chan, Eva, Cliffe, Corrina, Clifton-Bligh, Roderick, Dooley, Susan, Fernandez, Miriam Fanjul, Farnsworth, Elizabeth, Ha, Thuong, Henry, Denae, Holds, Duncan, Holman, Katherine, Jackson, Matilda, Kang, Sinlay, Luxford, Catherine, McManus, Sam, Mehrtens, Rachael, Meldrum, Cliff, Pantaleo, Sarah-Jane, Phelan, Dean, Pontikinas, Electra, Ravine, Anja, Roscioli, Tony, Scott, Rodney, Simons, Keryn, Vanwageningen, Oliver

“…Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical…”
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Origins and Divergence of the Roma (Gypsies) by Gresham, David, Morar, Bharti, Underhill, Peter A., Passarino, Giuseppe, Lin, Alice A., Wise, Cheryl, Angelicheva, Dora, Calafell, Francesc, Oefner, Peter J., Shen, Peidong, Tournev, Ivailo, de Pablo, Rosario, Kuĉinskas, Vaidutis, Perez-Lezaun, Anna, Marushiakova, Elena, Popov, Vesselin, Kalaydjieva, Luba

“…The identification of a growing number of novel Mendelian disorders and private mutations in the Roma (Gypsies) points to their unique genetic heritage…”
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Comparative nuclear and mitochondrial genome diversity in humans and chimpanzees by Wise, C A, Sraml, M, Rubinsztein, D C, Easteal, S

“…Restriction mapping and sequencing have shown that humans have substantially lower levels of mitochondrial genome diversity (d) than chimpanzees. In contrast,…”
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Supervisor emphasis and supervisee counseling self-efficacy in counseling supervision by Wise, Cheryl Annette

“…This within-subjects study examined the effects of supervisor emphasis on counseling self-efficacy of students in a counseling practicum over the course of a…”
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