arrow
Back
A

Andrea Accogli

McGill University Health Center

28H-index
153Paper Count
2.4KCitation Count
Published Papers 49
Publication Date
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders
err2025-09-27
err0
errOAAI
errGabriele Di Pasquale; Jacopo Colella; Carola P. Di Cataldo; Miguel A. Soler; Sara Fortuna; Emma Mizrahi-Powell; Mathilde Nizon; Benjamin Cognè; Valentina Turchetti; Giuseppe D. Mangano; Francesco F. Comisi; Corrado Cecchetti; Alessandra Giliberti; Rosaria Nardello; Piero Pavone; Raffaele Falsaperla; Gabriella Di Rosa; Gilad D. Evrony; Maurizio Delvecchio; Mariasavina Severino; Andrea Accogli; Alessandro Vittori; Vincenzo Salpietro
errShare
errSave
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
err2025-08-29
err0
errOAAI
errKimberly A. Chapman; Farid Ullah; Zachary A. Yahiku; Sheraz Khan; Sri Varsha Kodiparthi; Georgios Kellaris; Hazel G. White; Andrew T. Powell; Sandrina P. Correia; Tommy Stödberg; Christalena Sofocleous; Nikolaos M. Marinakis; Helena Fryssira; Eirini Tsoutsou; Jan Traeger-Synodinos; Andrea Accogli; Vittorio Sciruicchio; Vincenzo Salpietro; Pasquale Striano; Candace Muss; Boris Keren; Delphine Heron; Seth I. Berger; Kelvin W. Pond; Suman Sirimulla; Erica E. Davis; Martha R.C. Bhattacharya
errShare
errSave
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
err2024-10-24
err3
errOAAI
errPeron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina
errShare
errSave
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
err2024-06-01
err0
errOAAI
errKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
errShare
errSave
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
err2024-05-01
err2
errOAAI
errAccogli, Andrea; Park, Young N.; Lenk, Guy M.; Severino, Mariasavina; Scala, Marcello; Denecke, Jonas; Hempel, Maja; Lessel, Davor; Kortuem, Fanny; Salpietro, Vincenzo; de Marco, Patrizia; Guerrisi, Sara; Torella, Annalaura; Nigro, Vincenzo; Srour, Myriam; Turro, Ernest; Labarque, Veerle; Freson, Kathleen; Piatelli, Gianluca; Capra, Valeria; Kitzman, Jacob O.; Meisler, Miriam H.
errShare
errSave
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
err2024-04-01
err2
errOAAI
errBhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenco, Charles Marques; Stoler, Joan M.; Louie, Raymond J.; Clarkson, Lola K.; Lichty, Angie; Koboldt, Daniel C.; Reshmi, Shalini C.; Sisodiya, Sanjay M.; van Konijnenburg, Eva M. M. Hoytema; Koop, Klaas; Hasselt, Peter M. van; Demurger, Florence; Dubourg, Christele; Sullivan, Bonnie R.; Hughes, Susan S.; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M.
errShare
errSave
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
err2024-04-01
err3
errOAAI
errScala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G.; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogne, Benjamin; Salick, Max R.; Kaykas, Ajamete; Eggar, Kevin; Capra, Valeria; Bezieau, Stephane; Davis, Erica E.; Wells, Michael F.
errShare
errSave
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
err2024-04-01
err2
errOAAI
errPan, Xueyang; Tao, Alice M.; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B.; Slaugh, Rachel; Williams, Sarah Drewes; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T.; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E.; Newburger, Jane W.; Revah-Politi, Anya; Granadillo, Jorge L.; Stegmann, Alexander P. A.; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E. H.; Sweetser, David A.; Glinton, Kevin E.; Kirk, Susan E.; Wangler, Michael F.; Yamamoto, Shinya; Chung, Wendy K.; Bellen, Hugo J.
errShare
errSave
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals
err2024-02-05
err2
errOAAI
errHutchinson, Meagan L. Collins; St-Onge, Judith; Schlienger, Sabrina; Boudrahem-Addour, Nassima; Mougharbel, Lina; Michaud, Jean-Francois; Lloyd, Clara; Bruneau, Elena; Roux, Cedric; Sahly, Ahmed N.; Osterman, Bradley; Myers, Kenneth A.; Rouleau, Guy A.; Cruz, Daniel Alexander Jimenez; Riviere, Jean-Baptiste; Accogli, Andrea; Charron, Frederic; Srour, Myriam
errShare
errSave
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
err2024-01-08
err2
errOAAI
errAccogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sonderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J.
errShare
errSave
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
err2024-01-01
err3
errOAAI
errSalpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Cali, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Zand, Farhad Khadivi; Toosi, Mehran Beiraghi; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Alkuraya, Fowzan S.; Jepson, James E. C.; Houlden, Henry
errShare
errSave
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development
err2023-12-01
err2
errOAAI
errKrochmalnek, Eric; Accogli, Andrea; St-Onge, Judith; Addour-Boudrahem, Nassima; Prakash, Gyan; Kim, Sung-Hoon; Brunette-Clement, Tristan; Alhajaj, Ghadd; Mougharbel, Lina; Bruneau, Elena; Myers, Kenneth A.; Dubeau, Francois; Karamchandani, Jason; Farmer, Jean-Pierre; Atkinson, Jeffrey; Hall, Jeffrey; Poulin, Chantal Chantal; Rosenblatt, Bernard; Lafond-Lapalme, Joel; Weil, Alexander; Fallet-Bianco, Catherine; Albrecht, Steffen; Sonenberg, Nahum; Riviere, Jean-Baptiste; Dudley, Roy W.; Srour, Myriam
errShare
errSave
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
err2023-12-01
err4
PREAI
errScorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Cali, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A.; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B.; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo
errShare
errSave
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
err2023-11-01
err4
errOAAI
errBosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia
errShare
errSave
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA- synthetase (TARS2)-related disorder
err2023-11-01
err5
errOAAI
errAccogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Muehlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegra, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Araoz, Hilda Veronica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; Mcdunnah, Paige; Horvath, Rita; Cogne, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Stergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza
errShare
errSave
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
err2023-08-17
err3
errOAAI
errAccogli, Andrea; Zaki, Maha S.; Al-Owain, Mohammed; Otaif, Mansour Y.; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E.; De Goede, Christian G. E. L.; Cora, Tulun; Alvi, Javeria Raza; Eslahi, Atieh; Mohajeri, Mahsa Sadat Asl; Ashtiani, Setareh; Au, P. Y. Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Mojarrad, Majid; Arab, Fatemeh; Duymus, Fahrettin; Scantlebury, Morris H.; Yesil, Gozde; Rosenfeld, Jill Anne; Turkyilmaz, Ayberk; Sager, Safiye Gunes; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S.; Issa, Mahmoud Y.; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H.; Gleeson, Joseph G.; Striano, Pasquale; Houlden, Henry; Genomics England Res Consortium, Mariasavina; Severino, Mariasavina; Maroofian, Reza
errShare
errSave
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
err2023-06-21
err7
PREAI
errEngel, Camille; Valence, Stephanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valerie; Denomme-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gerard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Deborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormieres, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlene; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
errShare
errSave
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
err2023-05-31
err11
errOAAI
errEbstein, Frederic; Kuery, Sebastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M.; Besrard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M. W.; Vignard, Virginie; van Jaarsveld, Richard H.; Ades, Lesley; Cogne, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C. J.; Cole, F. Sessions; van den Boogaard, Marie-Jose H.; Wambach, Jennifer A.; Wegner, Daniel J.; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gelineau, Anne-Claire; Powis, Zoee; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E.; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T.; Osmond, Matthew; Wheeler, Patricia G.; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Genevieve; Barcia, Giulia; Feichtinger, Rene Guenther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frederic; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Voelker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E.; Elgersma, Ype; Hildebrand, Peter W.; Bolduc, Francois; Krueger, Elke; Bezieau, Stephane
errShare
errSave
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
err2023-05-14
err8
errOAAI
errD'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Caliskan, Haluk; Kokotovic, Tomislav; Blazekovic, Antonela; Jercic, Kristina Gotovac; Markovic, Silvana; Zigman, Tamara; Goran, Krnjak; Barisic, Nina; Duranovic, Vlasta; Ban, Ana; Borovecki, Fran; Ramadza, Danijela Petkovic; Baric, Ivo; Fazeli, Walid; Herkenrath, Peter; Marini, Carla; Vittorini, Roberta; Gowda, Vykuntaraju; Bouman, Arjan; Rocca, Clarissa; Alkhawaja, Issam Azmi; Murtaza, Bibi Nazia; Rehman, Malik Mujaddad Ur; Al Alam, Chadi; Nader, Gisele; Mancardi, Maria Margherita; Giacomini, Thea; Srivastava, Siddharth; Alvi, Javeria Raza; Tomoum, Hoda; Matricardi, Sara; Iacomino, Michele; Riva, Antonella; Scala, Marcello; Madia, Francesca; Pistorio, Angela; Salpietro, Vincenzo; Minetti, Carlo; Riviere, Jean-Baptiste; Srour, Myriam; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Vernes, Sonja Catherine; Zara, Federico; Striano, Pasquale; Nagy, Vanja
errShare
errSave
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
err2022-12-01
err3
PREAI
errSleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cusco, Ivon; Cusco, Ivon; Duran-Romana, Ramon; Ekhilevitch, Nina; Fernandez-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M.; Muir, Alison M.; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E.; Schnur, Rhonda E.; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S.; Vengoechea, Jaime; Ville, Dorothee; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G.; Mefford, Heather C.; Peeters, Hilde
errShare
errSave