Search Results - Powis, Zöe

Refine Results
  1. 1
    Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

    Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM1... by Powis, Zöe, Hart, Alexa, Cherny, Sara, Petrik, Igor, Palmaer, Erika, Tang, Sha, Jones, Carolyn

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  2. 2
    Clinical whole‐exome sequencing results impact medical management

    Clinical whole‐exome sequencing results impact medical management by Niguidula, Nancy, Alamillo, Christina, Shahmirzadi Mowlavi, Layla, Powis, Zöe, Cohen, Julie S., Farwell Hagman, Kelly D.

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  3. 3
    Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

    Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies by Sajan, Samin A., Powis, Zöe, Helbig, Katherine L., Nagakura, Honey, Immken, Ladonna, Tang, Sha, Alcaraz, Wendy A.

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  4. 4
    SIBLING CONCORDANCE FOR CLINICAL FEATURES OF DUCHENNE AND BECKER MUSCULAR DYSTROPHIES

    SIBLING CONCORDANCE FOR CLINICAL FEATURES OF DUCHENNE AND BECKER MUSCULAR DYSTROPHIES by PETTYGROVE, SYDNEY, LU, ZHENQIANG, ANDREWS, JENNIFER G., MEANEY, F. JOHN, SHEEHAN, DANIEL W., PRICE, ELINORA T., FOX, DEBORAH J., PANDYA, SHREE, OUYANG, LIJING, APKON, SUSAN D., POWIS, ZOE, CUNNIFF, CHRISTOPHER

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  5. 5
    Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

    Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications by Smith, Erica D., Radtke, Kelly, Rossi, Mari, Shinde, Deepali N., Darabi, Sourat, El‐Khechen, Dima, Powis, Zöe, Helbig, Katherine, Waller, Kendra, Grange, Dorothy K., Tang, Sha, Farwell Hagman, Kelly D.

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  6. 6
    When moments matter: Finding answers with rapid exome sequencing

    When moments matter: Finding answers with rapid exome sequencing by Powis, Zöe, Farwell Hagman, Kelly D., Blanco, Kirsten, Au, Margaret, Graham, John M., Singh, Kathryn, Gallant, Natalie, Randolph, Linda M., Towne, Meghan, Hunter, Jesse, Shinde, Deepali N., Palmaer, Erika, Schoenfeld, Brian, Tang, Sha

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  7. 7
    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood by Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Baskin, Berivan, Powis, Zöe, Shaag, Avraham, Keren, Boris, Moldovan, George-Lucian, Elpeleg, Orly

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  8. 8
    Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

    Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation by Ng, Bobby G., Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N., Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B., AlAsmari, Ali, Suchy, Sharon F., Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A., Kronn, David F., Freeze, Hudson H.

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  9. 9
    Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

    Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange by Yan, Jiong, Zhang, Feng, Brundage, Ellen, Scheuerle, Angela, Lanpher, Brendan, Erickson, Robert P., Powis, Zoe, Robinson, Haynes B., Trapane, Pamela L., Stachiw-Hietpas, Danuta, Keppler-Noreuil, Kim M., Lalani, Seema R., Sahoo, Trilochan, Chinault, A. Craig, Patel, Ankita, Cheung, Sau Wai, Lupski, James R.

    Published 2008
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  10. 10
    De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism

    De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism by Fan, Yanjie, Yin, Wu, Hu, Bing, Kline, Antonie D., Zhang, Victor Wei, Liang, Desheng, Sun, Yu, Wang, Lili, Tang, Sha, Powis, Zöe, Li, Lei, Yan, Huifang, Shi, Zhen, Yang, Xiaoping, Chen, Yinyin, Wang, Jingmin, Jiang, Yuwu, Tan, Hu, Gu, Xuefan, Wu, Lingqian, Yu, Yongguo

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  11. 11
    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases by Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  12. 12
    Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

    Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases by Farwell Hagman, Kelly D, Shinde, Deepali N, Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C, Alcaraz, Wendy A, Helbig, Katherine L, Sajan, Samin A, Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E, Tang, Sha

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  13. 13
    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila by Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  14. 14
    Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

    Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder by Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  15. 15
    De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease

    De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease by Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  16. 16
    De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

    De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay by Hiatt, Susan M., Neu, Matthew B., Ramaker, Ryne C., Hardigan, Andrew A., Prokop, Jeremy W., Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K. C., Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D., Suchy, Sharon F., Willaert, Rebecca, Wentzensen, Ingrid M., Wheeler, Patricia G., Brick, Lauren, Kozenko, Mariya, Hurst, Anna C. E., Wheless, James W., Lacassie, Yves, Myers, Richard M., Barsh, Gregory S., Sedlacek, Zdenek, Cooper, Gregory M.

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  17. 17
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies by Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  18. 18
    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures by Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T., Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W., Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M., Finnila, Candice R., Guillen Sacoto, Maria J., Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S., McDermott, John Henry, Meltzer, Meira R., Monaghan, Kristin G., Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M., Schreiber, John M., Sirsi, Deepa, Wierenga, Klaas J., Wojcik, Monica H., Papuc, Sorina M., Steindl, Katharina, Sticht, Heinrich, Rauch, Anita

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  19. 19
    De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

    De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder by Snijders Blok, Lot, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M.A., van Gassen, Koen L.I., Firth, Helen V., Tomkins, Susan, Bodek, Simon, Õunap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoë, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E.

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  20. 20
    Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

    Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy by Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Truitt Cho, Megan, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Sukoff Rizzo, Stacey J, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:

Search Tools: