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Karen W Gripp (K W Gripp, Karen Gripp)

ORCID

Publication Activity (10 Years)

Years Active: 2015-2022
Publications (10 Years): 13

Top Venues

American journal of medical genetics. Part A

Clinical genetics

European journal of human genetics : EJHG

Nature genetics

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

Publications

Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E Axelrad, Annette Bakker, Anton M Bennett, Alberto Broniscer, Pau Castel, Caitlin A Chang, Lukas Cyganek, Tirtha K Das, Jeroen den Hertog, Emilia Galperin, Shruti Garg, Bruce D Gelb, Kristiana Gordon, Tamar Green, Karen W Gripp, Maxim Itkin, Maija Kiuru, Bruce R Korf, Jeff R Livingstone, Alejandro López-Juárez, Pilar L Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I Pierpont, Kevin Plouffe, Katherine A Rauen, Suma P Shankar, Shane B Smith, David A Stevenson, Tartaglia Marco, Richard Van, Morgan E Wagner, Stephanie M Ware, Martin Zenker
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. American journal of medical genetics. Part A 188 (6) (2022)
Kathryn Nicole Weaver, Karen W Gripp
Central nervous system involvement in individuals with RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Karen W Gripp, Kenneth Lyons Jones, Tara L Wenger, null null, Margaret P Adam
41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting. American journal of medical genetics. Part A (2021)
Karen W Gripp, Sarah F Smithson, Ingrid J Scurr, Júlia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B Henderson, Ingrid M Wentzensen, Heather McLaughlin, Lisette Leeuwen, Marleen E H Simon, Ellen van Binsbergen, Mary Beth P Dinulos, Julie D Kaplan, Anne McRae, Andrea Superti-Furga, Jean-Marc Good, Kerstin Kutsche
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies. European journal of human genetics : EJHG 29 (9) (2021)
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A Thompson, Mercedes Calvo Pardo, Lu Yu, Joy W Norris, Yunhui Peng, Karen W Gripp, Kirk A Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Seokhwi Kim, Marie R Mooney, Shahid M Baig, Ingrid M Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor A Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E Stevenson, Jyoti Sharma Choudhary, David J Adams, Cheol-Hee Kim, Erica E Davis, Charles E Schwartz
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature communications 11 (1) (2020)
Karen W Gripp, Laura Baker, Katherine M Robbins, Deborah L Stabley, Gary A Bellus, Verena Kolbe, Theresa Nauth, Georg Rosenberger
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. European journal of human genetics : EJHG 28 (11) (2020)
Karen W Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach, Anton M Bennett, Susan Blaser, Amanda Brown, Rebecca Burdine, Emma Burkitt-Wright, Pau Castel, Sandra Darilek, Alwyn Dias, Tuesdi Dyer, Michelle Ellis, Gregg Erickson, Bruce D Gelb, Tamar Green, Andrea Gross, Alan Ho, James Lloyd Holder, Shin-Ichi Inoue, Angie C Jelin, Annie Kennedy, Richard Klein, Maria I Kontaridis, Pilar Magoulas, Darryl B McConnell, Frank McCormick, Benjamin G Neel, Carlos E Prada, Katherine A Rauen, Amy Roberts, Pablo Rodriguez-Viciana, Neal Rosen, Gavin Rumbaugh, Anna Sablina, Maja Solman, Marco Tartaglia, Angelica Thomas, William C Timmer, Kartik Venkatachalam, Karin S Walsh, Pamela L Wolters, Jae-Sung Yi, Martin Zenker, Nancy Ratner
The sixth international RASopathies symposium: Precision medicine-From promise to practice. American journal of medical genetics. Part A 182 (3) (2019)
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)
Katherine A Rauen, Lisa Schoyer, Lisa Schill, Beth Stronach, John Albeck, Brage S Andresen, Hélène Cavé, Michelle Ellis, Steven M Fruchtman, Bruce D Gelb, Christopher C Gibson, Karen W Gripp, Erin Hefner, William Y C Huang, Maxim Itkin, Bronwyn Kerr, Corinne M Linardic, Martin McMahon, Beverly Oberlander, Ethan Perlstein, Nancy Ratner, Leslie Rogers, Annette Schenck, Suma Shankar, Stanislav Shvartsman, David A Stevenson, Edward C Stites, Philip J S Stork, Cheng Sun, Marc Therrien, Erik M Ullian, Brigitte C Widemann, Erika Yeh, Giuseppe Zampino, Martin Zenker, William Timmer, Frank McCormick
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. American journal of medical genetics. Part A 176 (12) (2018)
Karen W Gripp, V Kolbe, L I Brandenstein, G Rosenberger
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. Clinical genetics 92 (3) (2017)
Karen W Gripp, L Baker, V Kandula, J Piatt, A Walter, Z Chen, L Messiaen
Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. Clinical genetics 92 (5) (2017)
Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang, Andrew C Edmondson, Sarah Noon, Matthew C Dulik, Ramakrishnan Rajagopalan, Charles P Venditti, Karen W Gripp, Joy Samanich, Elaine H Zackai, Matthew A Deardorff, Dinah Clark, Julian L Allen, Dale Dorsett, Ziva Misulovin, Makiko Komata, Masashige Bando, Maninder Kaur, Yuki Katou, Katsuhiko Shirahige, Ian D Krantz
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nature genetics 47 (4) (2015)
Surabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, Nina Powell-Hamilton, Kim Jenny, Karen W Gripp, Miriam Elbracht, Thomas Eggermann, Claire L S Turner, I Karen Temple, Deborah J G Mackay, Holly Dubbs, David A Stevenson, Leah Slattery, Elaine H Zackai, Nancy B Spinner, Ian D Krantz, Laura K Conlin
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genetics in medicine : official journal of the American College of Medical Genetics 18 (4) (2015)

Karen W Gripp.css-eqlu8i{font-size:small;padding-left:4px;} (K W Gripp, Karen Gripp)

Publication Activity (10 Years)

Top Topics

Top Venues

Karen W Gripp (K W Gripp, Karen Gripp)