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Yuri A. Zárate

University of Arkansas System

28H-index
148Paper Count
3.1KCitation Count
Published Papers 43
Publication Date
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework
err2026-04-29
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PREAI
errEnyonam Edoh; Chloe Mighton; Eleanor Broeren; Vanessa Gitau; Julie Ratliff; Marina DiStefano; Sandra Gadalla; Amanda Girod; Madeline Hughes; Hannah McCurry; Mayher Patel; Emma H. Wilcox; Moosa Mohammadi; Cate Paschal; Elaine Spector; Andrew O.M. Wilkie; Elaine Zackai; Yuri A. Zarate; John M. Graham; Ethylin Wang Jabs
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Prioritizing topics for a Clinical Practice Guideline on SATB2-Associated Syndrome: Methodological rigor versus clinical usability
err2026-02-19
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errOAAI
errCharlotte Maria Wilhelmina Gaasterland; Mirthe Jasmijn Klein Haneveld; Barber Maria Tinselboer; Yuri A. Zarate; Damjan Osredkar; Agnies Marguerite van Eeghen; Erika Stariha
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Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity
err2025-11-01
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errOAAI
errden Hoed, Joery; Semmekrot, Fleur; Verseput, Jolijn; Dingemans, Alexander J. M.; Schijven, Dick; Francks, Clyde; Zarate, Yuri A.; Fisher, Simon E.
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A clinical and genotype-phenotype analysis of MACF1 variants
err2025-09-08
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PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
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ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes
err2025-05-27
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PREAI
errYuri A. Zarate; Lina Abdelmoti; Seungjae Oh; Andreya White; Cassandra Starks; Margaret G. Au; Jing Chen; Nicole K. Weaver; Konstantin V. Korotkov; Emilia Galperin
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Familial complete pachydermoperiostosis presenting with vertebral hypertrophy and myelopathy
err2025-05-08
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errOAAI
errHonaker, Eric; Birkhead, Andrew; Guillen, Kennedy; Knuckles, Melissa; Lima, Florence; Zarate, Yuri A.; Cassidy, Carter; Malluche, Hartmut H.; Rao, Madhumathi
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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics
err2025-05-01
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PREAI
errMak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y.
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Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways
err2024-11-14
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PREAI
errCollu, Roberto; Zarate, Yuri A.; Xia, Weiming; Fish, Jennifer L.
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
err2024-09-26
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PREAI
errden Hoed, Joery; Hashimoto, Hirokazu; Khan, Mubeen; Semmekrot, Fleur; Bosanko, Katherine A.; Abe-Hatano, Chihiro; Nakagawa, Eiji; Venselaar, Hanka; Quercia, Nada; Chad, Lauren; Kurosaka, Hiroshi; Rondeau, Stephane; Fisher, Simon E.; Yamamoto, Shinya; Zarate, Yuri A.
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Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial
err2023-11-01
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errOAAI
errSavarirayan, Ravi; Hoernschemeyer, Daniel G.; Ljungberg, Merete; Zarate, Yuri A.; Bacino, Carlos A.; Bober, Michael B.; Legare, Janet M.; Hoegler, Wolfgang; Quattrin, Teresa; Abuzzahab, M. Jennifer; Hofman, Paul L.; White, Klane K.; Ma, Nina S.; Schnabel, Dirk; Sousa, Sergio B.; Mao, Meng; Smith, Alden; Chakraborty, Mukta; Giwa, Adebola; Winding, Bent; Volck, Birgitte; Shu, Aimee D.; McDonnellt, Ciara
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Bi-allelic variants in INTS11 are associated with a complex neurological disorder
err2023-05-01
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errOAAI
errTepe, Burak; Macke, Erica L.; Niceta, Marcello; Hubshman, Monika Weisz; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; De Luque, Jorge Luis Granadillo; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A.; Prabhakar, Prab; Gosswein, Sophie; Di Donato, Nataliya; Bertini, Enrico S.; Wangler, Michael F.; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W.; Bellen, Hugo J.
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Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
err2023-04-26
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errOAAI
errZarate, Yuri A.; Bosanko, Katherine; Kannan, Amrit; Thomason, Ashlen; Nutt, Beth; Kumar, Nihit; Simmons, Kirt; Hiegert, Aaron; Hartzell, Larry; Johnson, Adam; Prater, Tabitha; Perez-Palma, Eduardo; Bruenger, Tobias; Stefanski, Arthur; Lal, Dennis; Caffrey, Aisling R.
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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
err2023-01-01
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errOAAI
errMuffels, Irena J. J.; Schene, Imre F.; Rehmann, Holger; Massink, Maarten P. G.; van der Wal, Maria M.; Bauder, Corinna; Labeur, Martha; Armando, Natalia G.; Lequin, Maarten H.; Houben, Michiel L.; Giltay, Jaques C.; Haitjema, Saskia; Huisman, Albert; Vansenne, Fleur; Bluvstein, Judith; Pappas, John; Shailee, Lala V.; Zarate, Yuri A.; Mokry, Michal; van Haaften, Gijs W.; Nieuwenhuis, Edward E. S.; Refojo, Damian; van Wijk, Femke; Fuchs, Sabine A.; van Hasselt, Peter M.
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A clinical scoring system for early onset (neonatal) Marfan syndrome
err2022-07-01
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errOAAI
errZarate, Yuri A.; Morris, Shaine A.; Blackshare, Anna; Algaze, Claudia A.; Connor, Brynn S.; Kim, Andrew J.; Yutzey, Katherine E.; Miller, Erin M.; Weaver, Kathryn Nicole; Collins, Ronnie Thomas, II
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
err2022-06-27
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errOAAI
errWissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur, V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias, I; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Helene; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Catala; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne
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A clinical scoring system for early onset (neonatal) Marfan syndrome
err2022-03-01
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errOAAI
errZarate, Yuri; Morris, Shaine; Blackshare, Anna; Algaze, Claudia; Connor, Brynn; Kim, Andrew; Yutzey, Katherine; Miller, Erin; Weaver, Kathryn Nicole; Collins, Thomas
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Response to Biesecker et al.
err2021-09-01
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errOAAI
errBiesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J. M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A.
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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
err2021-06-01
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errOAAI
errZarate, Yuri A.; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Morrow, Michelle M.; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
err2021-05-01
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errOAAI
errVoisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Dec, 10.1038/s41436-020-01020-w, 2020)
err2021-04-01
err1
errOAAI
errKlockner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela V.; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McLaughlin, Heather M.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; van den Boogaard, Marie-Jose; van der Crabben, Saskia N.; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Van Ziffle, Jessica; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R.; Platzer, Konrad
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