Hakutulokset - Zöe Powis

Tarkenna hakua
  1. 1
    Clinical whole‐exome sequencing results impact medical management

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

    Julkaistu 2018
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  2. 2
    Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

    Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy Tekijä Katherine L. Helbig, Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig

    Julkaistu 2016
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  3. 3
    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 Tekijä Erica D. Smith, Kelly Radtke, Mari Rossi, Deepali N. Shinde, Sourat Darabi, Dima El‐Khechen, Zöe Powis, Katherine L. Helbig, Kendra Waller, Dorothy K. Grange, Sha Tang, Kelly D. Farwell Hagman

    Julkaistu 2017
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  4. 4
    Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

    Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies Tekijä Christina L. Alamillo, Zöe Powis, Kelly D. Farwell, Layla Shahmirzadi, Elaine Weltmer, John Turocy, Thomas W. Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao, Sha Tang

    Julkaistu 2015
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  5. 5
    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 Tekijä Bobby G. Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N. Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B. Lebrilla, Ali Alasmari, Sharon F. Suchy, Zöe Powis, Eissa Faqeih, Susan A. Berry, David F. Kronn, Hudson H. Freeze

    Julkaistu 2018
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  6. 6
    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 Tekijä Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George‐Lucian Moldovan, Orly Elpeleg

    Julkaistu 2017
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  7. 7
    Mouse screen reveals multiple new genes underlying mouse and human hearing loss

    Mouse screen reveals multiple new genes underlying mouse and human hearing loss Tekijä Neil J. Ingham, Selina Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zöe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel

    Julkaistu 2019
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  8. 8
    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 Tekijä Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Erica D. Smith, Kelly Radtke, Layla Shahmirzadi, Dima El‐Khechen, Zöe Powis, Elizabeth Chao, Wendy Alcaraz, Katherine L. Helbig, Samin A. Sajan, Mari Rossi, Hsiao‐Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E. Nuñes, Sha Tang

    Julkaistu 2016
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  9. 9
    Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

    Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions Tekijä Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen, Zöe Powis, Elizabeth Chao, Brigette Tippin Davis, Ruth M. Baxter, Wenqi Zeng, Cameron Mroske, Melissa Parra, Stephanie Gandomi, Ira Lu, Xiang Li, Hong Lu, Hsiao‐Mei Lu, David Salvador, David Ruble, Monica Lao, Soren Fischbach, Jennifer X. Wen, Shela Lee, Aaron Elliott, Charles Dunlop, Sha Tang

    Julkaistu 2014
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  10. 10
    Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

    Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing Tekijä Johanna Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora Jh Bean, Cristina da Silva, Megan T. Cho, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zöe Powis, Grace M. Hobson, Susan M. Kirwin, Bryan L. Krock, Hane Lee, Joshua L. Deignan, Maggie Westemeyer, Ryan Subaran, Isabelle Thiffault, Ellen Tsai, Terry Fang, Guy Helman, Adeline Vanderver

    Julkaistu 2020
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  11. 11
    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 Tekijä Ning Liu, Kelly Schoch, Xi Luo, Loren D.M. Peña, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen Deak, Marie McDonald, Allyn McConkie‐Rosell, M. Louise Markert, Peter G. Kranz, Nicholas Stong, Anna C. Need, David Bick, Michelle D. Amaral, Elizabeth A. Worthey, Shawn Levy, Michael F. Wangler, Hugo J. Bellen, Vandana Shashi, Shinya Yamamoto

    Julkaistu 2018
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  12. 12
    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 Tekijä Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan L. Krock, Mohamad A. Mikati, Addie I. Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz‐González, Zöe Powis, Avni Santani, Lacey Smith, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier

    Julkaistu 2017
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  13. 13
    POGZ truncating alleles cause syndromic intellectual disability

    POGZ truncating alleles cause syndromic intellectual disability Tekijä Janson J. White, Christine R. Beck, Tamar Harel, Jennifer E. Posey, Shalini N. Jhangiani, Sha Tang, Kelly D. Farwell, Zöe Powis, Nancy J. Mendelsohn, Janice Baker, Lynda Pollack, Kati J. Mason, Klaas J. Wierenga, Daniel K. Arrington, Melissa Hall, Apostolos Psychogios, Laura Fairbrother, Magdalena Walkiewicz, Richard Person, Zhiyv Niu, Jing Zhang, Jill A. Rosenfeld, Donna M. Muzny, Christine M. Eng, Arthur L. Beaudet, James R. Lupski, Eric Boerwinkle, Richard A. Gibbs, Yaping Yang, Fan Xia, V. Reid Sutton

    Julkaistu 2016
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  14. 14
    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 Tekijä Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    Julkaistu 2019
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  15. 15
    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 Tekijä Markus Zweier, Anaïs Begemann, Kirsty McWalter, Megan T. Cho, Lucia Abela, Siddharth Banka, Bettina Behring, Andrea Berger, Chester Brown, Maryline Carneiro, Jiani Chen, Gregory M. Cooper, Candice R. Finnila, María J. Guillen Sacoto, Alex Henderson, Ulrike Hüffmeier, Pascal Joset, Bronwyn Kerr, Gaëtan Lesca, Gloria Leszinski, John McDermott, Meira R. Meltzer, Kristin G. Monaghan, Roya Mostafavi, Katrin Õunap, Barbara Plecko, Zöe Powis, Gabriela Purcarin, Tiia Reimand, Korbinian M. Riedhammer, John M. Schreiber, Deepa Sirsi, Klaas J. Wierenga, Monica H. Wojcik, Sorina Mihaela Papuc, Katharina Steindl, Heinrich Sticht, Anita Rauch

    Julkaistu 2019
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  16. 16
    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 Tekijä Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia M. Maas, Hester Y. Kroes, Augusta M.A. Lachmeijer, Koen L.I. van Gassen, Helen V. Firth, Susan Tomkins, Simon Bodek, Katrin Õunap, Monica H. Wojcik, Christopher Cunniff, Katherine Bergstrom, Zöe Powis, Sha Tang, Deepali N. Shinde, Catherine Au, Alejandro Iglesias, Kosuke Izumi, Jacqueline Leonard, Ahmad Abou Tayoun, Samuel W. Baker, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christian Gilissen, Laurens Wiel, Rolph Pfundt, Pelagia Deriziotis, Han G. Brunner, Simon E. Fisher

    Julkaistu 2019
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  17. 17
    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria Tekijä Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis, Rikke S. Møller, Cristina Bellan, Alessandro Simonati, Gaëtan Lesca, Katherine L. Helbig, Elizabeth E. Palmer, Davide Mei, Elisa Ballardini, Arie van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J. Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia M.S. Mancini, Jill Clayton‐Smith, Stefania Bigoni, Ingrid E. Scheffer, William B. Dobyns, Bente Vilsen, Renzo Guerrini, Damien Sanlaville, Rani Sachdev, Ian Andrews, Francesco Mari, A Cavalli, Carmen Barba, Beatrice De Maria, Giampaolo Garani, Johannes R. Lemke, Mario Mastrangelo, Emily Tam, Elizabeth Donner, Helen M. Branson, Fabíola Paoli Monteiro, Fernando Kok, Katherine B. Howell, Stephanie L. Leech, Heather C. Mefford, Alison M. Muir

    Julkaistu 2021
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  18. 18
    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis Tekijä Renzo Guerrini, Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly S. McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance H. Rodan, Rima Nabbout, Giulia Barcia, Jill A. Rosenfeld, Carlos A. Bacino, Cyril Mignot, L. Power, Catharine Harris, Dragan Marjanović, Rikke S. Møller, Trine Bjørg Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M. Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio

    Julkaistu 2022
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  19. 19
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Tekijä Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Strømme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez‐Buritica, Laura S. Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjørg Stray‐Pedersen, Pascal Chambon, Sophie Patrier, Sally Ann Lynch, Susanne Kjærgaard, Pernille Mathiesen Tørring, Charlotte Brasch‐Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan H. Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gécz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vries

    Julkaistu 2017
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  20. 20
    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation Tekijä Carlos R. Ferreira, Zhi‐Jie Xia, Aurélie Clément, David Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman Turgeon, Bernardo Blanco‐Sánchez, Bobby G. Ng, Clare V. Logan, Lynne A. Wolfe, Benjamin D. Solomon, Megan T. Cho, Ganka Douglas, Daniel R. Carvalho, Heiko Bratke, Marte G. Haug, Jennifer B. Phillips, Jeremy Wegner, Michael Tiemeyer, Kazuhiro Aoki, Ann Nordgren, Anna Hammarsjö, Angela L. Duker, Luis Rohena, Hanne Hove, Jakob Ek, David R. Adams, Cynthia J. Tifft, Tito Onyekweli, Tara Weixel, Ellen F. Macnamara, Kelly Radtke, Zöe Powis, Dawn Earl, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Emma Tham, Kimiyo Raymond, John A. Phillips, George E. Tiller, William G. Wilson, Rizwan Hamid, May Christine V. Malicdan, Gen Nishimura, Giedre Grigelioniené, Andrew P. Jackson, Monte Westerfield, Michael B. Bober, William A. Gahl, Hudson H. Freeze

    Julkaistu 2018
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:

Työkalut: