Andrea Accogli

University of British Columbia

H指数:28

被引数:2,396

个人简介

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教育背景

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工作经历

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荣誉奖项

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Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features

导致ELAVL2单倍剂量不足的变异引起具有显著认知、行为和神经学特征的神经发育障碍

American Journal of Human Genetics

IF8.1

2026-09-010

PRE

Boon, Marina; Mulligan, Meghan R.; Verseput, Jolijn J. A.; Sakic, Barbara; Schreurs, Pleuni; Coll-Tane, Mireia; Accogli, Andrea; Alderman, Emily; Athey, Taryn; Boerkoel, Cornelius; Boni, Antonella; Caumes, Roseline; Gerkes, Erica; Haase, Sabine; Jaillard, Sylvie; Jeffries, Lauren; Kannu, Peter; Konstantino, Monica; Levy, Jonathan; Lokchine, Anna; Massink, Maarten; Samra, Nadra Nasser; Oegema, Renske; Scala, Marcello; Schieving, Jolanda; Schwartzmann, Sarina; Sczakiel, Henrike Lisa; Smol, Thomas; Striano, Pasquale; Verloes, Alain; Begtrup, Amber; Pfundt, Rolph; Franke, Barbara; Klein, Marieke; Schenck, Annette; Bicknell, Louise S.; de Vries, Bert B. A.

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders

TUBB2A基因中的一个突变热点与异源二聚体形成障碍及严重脑发育障碍相关联。

Frontiers in Cellular Neuroscience

IF4

2025-09-270

OAAI

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B基因中的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

american journal of human genetics

IF0

2025-08-290

OAAI

Kimberly 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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-10-243

OAAI

Peron, 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

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-06-010

OAAI

Kalm, 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

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

SLC12A9的双等位基因功能丧失变体导致溶酶体功能障碍和综合征性神经发育障碍

GENETICS IN MEDICINE

IF6.2

2024-05-012

OAAI

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-04-012

OAAI

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

GENETICS IN MEDICINE

IF6.2

2024-04-013

Scala, 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.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-04-012

OAAI

Pan, 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.

Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals

MOVEMENT DISORDERS

IF7.6

2024-02-052

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

NATURE COMMUNICATIONS

IF15.7

2024-01-082

OAAI

Accogli, 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.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-01-013

OAAI

Salpietro, 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

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development

NEUROLOGY-GENETICS

IF3.7

2023-12-012

OAAI

Krochmalnek, 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

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

PEDIATRIC NEUROLOGY

IF2.1

2023-12-014

PRE

Scorrano, 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

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

GENETICS IN MEDICINE

IF6.2

2023-11-014

OAAI

Bosch, 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

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA- synthetase (TARS2)-related disorder

GENETICS IN MEDICINE

IF6.2

2023-11-015

OAAI

Accogli, 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

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

BRAIN COMMUNICATIONS

IF4.5

2023-08-173

OAAI

Accogli, 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

BRAT1-related疾病: 97例患者的表型谱和表型-基因型相关性

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-06-217

PRE

Engel, 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

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2023-05-3111

Ebstein, 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

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

接触蛋白相关蛋白样2 (CNTNAP-2) 发育障碍的基因型-表型相关性

HUMAN GENETICS

IF3.6

2023-05-148

OAAI

D'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

Andrea Accogli

个人简介

教育背景

工作经历

荣誉奖项

研究方向