Zöe Powis (Z Powis, Zoe Powis)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2020
Publications (10 Years): 11

Top Venues

Clinical genetics

Molecular genetics & genomic medicine

European journal of human genetics : EJHG

PLoS genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E Martina Bebin, Nicole L Bertsch, Patrick R Blackburn, Alyssa Blesson, Arjan M Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M Cooper, Jonas Denecke, Anne Dieux-Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren E Bartik, Lauren B Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W Klee, Katja Kloth, Baiba Lace, Marina Macchiaiolo, Julien L Marcadier, Jeff M Milunsky, Melanie P Napier, Xilma R Ortiz-Gonzalez, Pavel N Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen J Rasmussen, Deborah L Renaud, Eric T Rush, Carol Saunders, Duygu Selcen, Ann R Seman, Deepali N Shinde, Erica D Smith, Thomas Smol, Lot Snijders Blok, Joan M Stoler, Sha Tang, Marco Tartaglia, Michelle L Thompson, Jiddeke M van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H Zackai, Giuseppe Zampino, Philippe M Campeau, Elizabeth Bhoj
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European journal of human genetics : EJHG 28 (10) (2020)
Markus Zweier, Anaïs Begemann, Kirsty McWalter, Megan T Cho, Lucia Abela, Siddharth Banka, Bettina Behring, Andrea Berger, Chester W Brown, Maryline Carneiro, Jiani Chen, Gregory M Cooper, null null, Candice R Finnila, Maria J Guillen Sacoto, Alex Henderson, Ulrike Hüffmeier, Pascal Joset, Bronwyn Kerr, Gaetan Lesca, Gloria S Leszinski, John Henry 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 M Papuc, Katharina Steindl, Heinrich Sticht, Anita Rauch
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European journal of human genetics : EJHG 27 (5) (2019)
Jameson Patak, James Gilfert, Melissa Byler, Vamsee Neerukonda, Isabelle Thiffault, Laura Cross, Shivarajan Amudhavalli, Marta Pacio-Miguez, Maria Palomares-Bralo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Zöe Powis, Wendy Alcaraz, Sha Tang, Julie Jurgens, Brenda Barry, Eleina England, Elizabeth Engle, Jonathon Hess, Robert R Lebel
MAGEL2-related disorders: A study and case series. Clinical genetics 96 (6) (2019)
Zöe Powis, Kelly D F Hagman, Kirsten Blanco, Margaret Au, John M Graham, Kathryn Singh, Natalie Gallant, Linda M Randolph, Meghan C Towne, Jesse Hunter, Deepali N Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang
When moments matter: Finding answers with rapid exome sequencing. Molecular genetics & genomic medicine 8 (2) (2019)
Zöe Powis, Meghan C Towne, Kelly D F Hagman, Kirsten Blanco, Erika Palmaer, Andrew Castro, Samin A Sajan, Kelly Radtke, Timothy J Feyma, Kali Juliette, Sha Tang, Christos Sidiropoulos
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. Clinical genetics 97 (2) (2019)
Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stránecký, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Mignot Cyril, Marlène Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS genetics 14 (11) (2018)
Nancy Niguidula, Christina Alamillo, Elizabeth C Chao, Zöe Powis, Julie S Cohen, Kelly D F Hagman
Clinical whole-exome sequencing results impact medical management. Molecular genetics & genomic medicine 6 (6) (2018)
Zöe Powis, K D Farwell Hagman, C Mroske, K McWalter, J S Cohen, R Colombo, A Serretti, A Fatemi, K L David, J Reynolds, L Immken, H Nagakura, C M Cunniff, K Payne, T Barbaro-Dieber, Karen W Gripp, L Baker, T Stamper, K A Aleck, E S Jordan, J H Hersh, J Burton, I M Wentzensen, M J Guillen Sacoto, R Willaert, M T Cho, I Petrik, Robert Huether, S Tang
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Clinical genetics 93 (4) (2018)
Zöe Powis, I Petrik, J S Cohen, D Escolar, J Burton, C M A van Ravenswaaij-Arts, D A Sival, A P A Stegmann, T Kleefstra, R Pfundt, R Chikarmane, A Begtrup, Robert Huether, S Tang, D N Shinde
De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Clinical genetics 93 (5) (2018)
Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
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. BMC medical genetics 18 (1) (2017)
Kelly D F Hagman, Deepali N Shinde, Cameron Mroske, Erica D Smith, Kelly Radtke, Elizabeth C Chao, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Wendy A Alcaraz, Katherine L Helbig, Samin A Sajan, Mari Rossi, Hsiao-Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E Nunes, Sha Tang
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genetics in medicine : official journal of the American College of Medical Genetics 19 (2) (2016)

Zöe Powis.css-eqlu8i{font-size:small;padding-left:4px;} (Z Powis, Zoe Powis)

Publication Activity (10 Years)

Top Topics

Top Venues

Zöe Powis (Z Powis, Zoe Powis)