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Ghayda Mirzaa

duke university

52H指数
210论文数
8.8K被引数
收录论文 75
发表时间
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization更正:CNOT3相关神经发育障碍的全面分析:表型和基因型特征
err2026-04-02
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsma; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
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Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants
err2026-01-28
err0
errOAAI
errSebastian Ortiz; Leonardo Affronte; Chiara Bagliani; Serene El-Kamand; Anthony Sze Hon Kan; Isabel T. Kristoffersen; Rebekka S. Dahl; Anne F. Højte; Stéphane Auvin; Arjan Bouman; Shimriet Zeidler; Gerhard Kluger; Gaetan Lesca; Nicolas Chatron; Zeynep Goke-Samar; Maria T. Papadopoulou; Matthildi Athina Papathanasiou Terzi; Elise Schaefer; Anne de Saint Martin; Sarah Baer; Mohammed Al Owain; Saud Takroni; Hesham Al-Dhalaan; Paolo Bonanni; Alessandra Rossi; Nicoletta Zanotta; Marina Trivisano; Nicola Specchio; Angela de Dominicis; Pasquale Striano; Alessandro Orsini; Maria Margherita Mancardi; Sebastian Neuens; Melanie Jennesson-Lyver; Ira Benkel-Herrenbrueck; David Genevieve; Richard Sidlow; Kamer Tezcan; Ilona Krey; Johannes R. Lemke; Konrad Platzer; Damien Lederer; Inga Talvik; Ulvi Vaher; Kees P. J. Braun; Anne-Marie Guerrot; Rebecca More; Matthias De Wachter; Sarah Weckhuysen; Evelina Carapancea; Maria Roberta Cilio; Julia Jacobs; Katalin Sterbova; Simona Balestrini; Renzo Guerrini; Giulio Peroni; Inger-Lise Mero; Walaa ElNaggar; Nour Elkhateeb; Ariane Schmetz; Denise L. Chan; Ghayda M. Mirzaa; Boris Chaumette; Adrien Legrand; Amy McTague; Tommy Stödberg; Rebekah V. Harris; Samuel F. Berkovic; Ingrid E. Scheffer; Mary Chebib; Elena Gardella; Philip K. Ahring; Nathan L. Absalom; Rikke S. Møller
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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive致病性GABRA3变异的功能后果决定了X连锁遗传是显性还是隐性
err2026-01-16
err0
PREAI
errJohannesen, Katrine M.; Aung, Khaing Phyu; Liao, Vivian W. Y.; Absalom, Nathan; Chua, Han C.; Gan, Xue N.; Mao, Miaomiao; McKenzie, Chaseley E.; Lee, Hian M.; Ortiz, Sebastian; Spillmann, Rebecca C.; Shashi, Vandana; Radtke, Rodney A.; Mirzaa, Ghayda M.; Weisner, P. Anne; Daboub, Josue Flores; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K.; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M.; Kruer, Michael C.; Bisarad, Pritha; Galaz-Montoya, Carolina I.; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C.; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Rubboli, Guido; Moller, Rikke S.; Reid, Christopher A.; Ahring, Philip K.
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Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights复发性GABRG2 p.(Ala106Thr)获能功能变异个体的早期神经症状及癫痫结局:结构与表型见解
err2025-12-01
err0
PREAI
errOrtiz, Sebastian; Bagliani, Chiara; Lin, Susan X. N.; Kusay, Ali S.; Silvennoinen, Katri; Kalviainen, Reetta; Jutila, Leena; Saarela, Anni; Dahl, Rebekka S.; Stodberg, Tommy; Marini, Carla; Cesaroni, Elisabetta; Bisulli, Francesca; Licchetta, Laura; Fallica, Elisa; Barco, Tommaso Lo; Torta, Francesca; Rizzo, Valentina; Castro-villablanca, Felipe; Yabumoto, Megan; Mirzaa, Ghayda; Rossi, Alessandra; Laugaard-jacobsen, Christian; Nobili, Lino; Liin, Sara I.; Gardella, Elena; Ahring, Philip K.; Moller, Rikke S.; Rubboli, Guido
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Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitroDPYSL5基因中的错义变异与神经发育障碍和脑畸形相关,可导致体外神经元成熟受损。
err2025-11-24
err0
errOAAI
errFlorence Desprez; Solène Remize; Liberty François-Moutal; Dévina C. Ung; Audrey Dangoumau; Sylviane Marouillat; Joanna Kennedy; Karen J. Low; Camille Kumps; Sheila Unger; Boris Keren; Jean-Madeleine de Sainte Agathe; Céline Poirsier; Ghayda M. Mirzaa; Kimberly A. Aldinger; Gaetan Lesca; Valentin Ruault; Candice R. Finnila; Whitley V. Kelley; Donald R. Latner; Sushma N. Guptha; Annabelle Tuttle; Ian Glass; Wendy K. Chung; Jennifer Cassady Hayek; Odile Boute; Aubin Moutal; Médéric Jeanne; Frédéric Laumonnier
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionSMARCA1的致病变异引起由NURF复合物组成调节的X连锁神经发育障碍
err2025-11-10
err0
errOAAI
errGhayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
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Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE)I期研究:ABI-009 (nab-rapamycin)治疗手术难治性癫痫(RaSuRE)
err2025-07-19
err0
PREAI
errKoko Hall; Russell Saneto; Stephanie Randle; Mark S. Wainwright; Patricia Berry; Sarah Leary; Ghayda Mirzaa; Jason Lockrow; Hannah Goldstein; Jeffrey Ojemann
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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterizationCNOT3-related神经发育障碍的综合分析: 表型和基因型特征
err2025-06-25
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
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Implementation of First-Tier Rapid Genome Sequencing in Non-Critical Care Pediatric Wards在非重症监护儿科病房中实施一级快速基因组测序
err2025-06-23
err0
errOAAI
errAlexandra C. Keefe; Abbey A. Scott; Lukas Kruidenier; Jessie Conta; Darci Sternen; Sarah Clowes-Candadai; Shannon M. Stasi; Julia Parish-Morris; Megan Sikes; Margaret P. Adam; Anita E. Beck; Jennifer C. Hayek; Ian Glass; James T. Bennett; Ghayda Mirzaa; Paul Kruszka; Kirsty McWalter; Deborah Copenheaver; Bethany Friedman; Mike Bamshad; Tara L. Wenger
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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresCRNKL1剪接体因子的复发性新发变异与严重小头畸形及伴癫痫的脑桥小脑发育不全相关
err2025-06-18
err0
PREAI
errSankalita Ray Das; Rosie Sullivan; Mischa S.G. Ruegg; Julia Horsfield; Jordan Doran; Gemma Poke; Nathalie de Vries; Sarah Duerinckx; Damien Lederer; Muzhirah Haniffa; Wee-Teik Keng; Gaik-Siew Ch’ng; David A. Parry; Andrew P. Jackson; Masamune Sakamoto; Naomichi Matsumoto; Noriko Miyake; Shin Nabatame; Hidetoshi Taniguchi; Emma Wakeling; Katrin Õunap; Pilvi Ilves; Ghayda Mirzaa; Andrew Timms; Emily Pao; Kimberly A. Aldinger; William Dobyns; Axel Bohring; Beate Behre; Daniel G. Calame; James R. Lupski; Juan M. Pascual; Marc Abramowicz; Gregory Gimenez; Louise S. Bicknell
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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
err2025-02-01
err0
PREAI
errVerbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle
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Protein interaction network analysis of mTOR signaling reveals modular organization
err2023-11-01
err1
errOAAI
errWehle, Devin T.; Bass, Carter S.; Sulc, Josef; Mirzaa, Ghayda; Smith, Stephen E. P.
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Variants in PTEN Are Associated With a Diverse Spectrum of Cortical DysplasiaPTEN的变异与多种皮质发育不良相关
err2023-10-01
err2
PREAI
errShelkowitz, Emily; V. Stence, Nicholas; Neuberger, Ilana; Park, Kristen L.; Saenz, Margarita S.; Pao, Emily; Oyama, Nora; Friedman, Seth D.; Shaw, Dennis W. W.; Mirzaa, Ghayda M.
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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
err2023-10-01
err2
errOAAI
errStergachis, Andrew B.; Blue, Elizabeth E.; Gillentine, Madelyn A.; Wang, Lee-Kai; Schwarze, Ulrike; Cortes, Adriana Sedeno; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y.; Khan, Alyna T.; Leppig, Kathleen A.; Miller, Danny E.; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Tran, Thao T.; Wener, Mark H.; Byers, Peter H. H.; Nelson, Stanley F.; Bamshad, Michael J.; Dipple, Katrina M.; Jarvik, Gail P.; Hoppins, Suzanne; Hisama, Fuki M.
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Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders
err2023-08-01
err2
errOAAI
errLanghammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortuem, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Kuechler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane
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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
err2023-05-16
err3
errOAAI
errPujol-Gimenez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E.; Albano, Giuseppe; Miller, Danny E.; Allworth, Aimee; Bennett, James T.; Byers, Peter H.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Gillentine, Madelyn A.; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A.; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Timms, Andrew; Wener, Mark; Bamshad, Michael J.; Hisama, Fuki M.; Jarvik, Gail P.; Dipple, Katrina M.; Hediger, Matthias A.; Stergachis, Andrew B.
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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
err2022-11-01
err14
errOAAI
errLai, Abbe; Soucy, Aubrie; El Achkar, Christelle Moufawad; Barkovich, Anthony J.; Cao, Yang; DiStefano, Marina; Evenson, Michael; Guerrini, Renzo; Knight, Devon; Lee, Yi-Shan; Mefford, Heather C.; Miller, David T.; Mirzaa, Ghayda; Mochida, Ganesh; Rodan, Lance H.; Patel, Mayher; Smith, Lacey; Spencer, Sara; Walsh, Christopher A.; Yang, Edward; Yuskaitis, Christopher J.; Yu, Timothy; Poduri, Annapurna
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Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis
err2022-10-10
err19
PREAI
errOyama, Nora; Vaneynde, Pieter; Reynhout, Sara; Pao, Emily M.; Timms, Andrew; Fan, Xiao; Foss, Kimberly; Derua, Rita; Janssens, Veerle; Chung, Wendy; Mirzaa, Ghayda M.
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Regulation of Liprin-? phase separation by CASK is disrupted by a mutation in its CaM kinase domain
err2022-09-22
err5
errOAAI
errTibbe, Debora; Ferle, Pia; Krisp, Christoph; Nampoothiri, Sheela; Mirzaa, Ghayda; Assaf, Melissa; Parikh, Sumit; Kutsche, Kerstin; Kreienkamp, Hans-Juergen
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ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection
err2022-07-24
err7
errOAAI
errThomas, Ajay X.; Link, Nichole; Robak, Laurie A.; Demmler-Harrison, Gail; Pao, Emily C.; Squire, Audrey E.; Michels, Savannah; Cohen, Julie S.; Comi, Anne; Prontera, Paolo; di Pianella, Alberto Verrotti; Di Cara, Giuseppe; Garavelli, Livia; Caraffi, Stefano Giuseppe; Fusco, Carlo; Zuntini, Roberta; Parks, Kendall C.; Sherr, Elliott H.; Hashem, Mais O.; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Contractar, Isphana A. F.; Neil, Jennifer E.; Walsh, Christopher A.; Bellen, Hugo J.; Chao, Hsiao-Tuan; Clark, Robin D.; Mirzaa, Ghayda M.
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