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Elisa Calì

University of London
H指数:11
被引数:341

个人简介

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荣誉奖项

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Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
BRAIN COMMUNICATIONS
IF4.5
2024-10-280
OAAI
Nagy, Sara; Pagnamenta, Alistair T.; Cali, Elisa; Braakman, Hilde M. H.; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D.; Rossor, Alexander M.; Meszarosova, Anna Uhrova; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K.; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M.; Lamont, Phillipa J.; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M.; Kvalsund, Michelle; Kapapa, Musambo M.; Somwe, Somwe Wa; Bearden, David R.; Cakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M.; Houlden, Henry; Maroofian, Reza
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
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
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
BRAIN COMMUNICATIONS
IF4.5
2023-10-172
OAAI
Nobrega, Paulo R.; R. B. de Paiva, Anderson; Souza, Katiane S.; de Souza, Jorge Luiz B.; G. S. B. Lima, Pedro Lucas; da Silva, Delson Jose; Pitombeira, Milena Sales; Borges, Viviennee K.; Dias, Daniel A.; Bispo, Luciana M.; Santos, Carolina F.; Freua, Fernando; Silva, Paulo Diego S.; Alves, Isabela S.; Portella, Leonardo B.; Cunha, Paulina R.; Salomao, Rubens Paulo A.; Pedroso, Jose Luiz; Miyajima, Veridiana P.; Miyajima, Fabio; Cali, Elisa; Wade, Charles; Sudarsanam, Annapurna; O'Driscoll, Mary; Hayton, Tom; Barsottini, Orlando G. P.; Klebe, Stephan; Kok, Fernando; Lucato, Leandro Tavares; Houlden, Henry; Depienne, Christel; Lynch, David S.; Braga-Neto, Pedro
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (vol 24 , pg 2079 , 2022)

杂合的UCHL1功能丧失变体会导致神经退行性疾病，伴有痉挛，共济失调，神经病和视神经萎缩 (第24卷，2079页，2022页)

GENETICS IN MEDICINE
IF6.2
2023-10-011
OAAI
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Downes, Susan M.; Nemeth, Andrea H.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Nguyen, Huu Phuc; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schols, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

双等位基因MED27变体导致运动障碍的可变脑-小脑-变性

BRAIN
IF11.7
2023-07-303
OAAI
Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

扩展SPTAN1单等位基因变体相关疾病: 从癫痫性脑病到纯痉挛性截瘫和共济失调

GENETICS IN MEDICINE
IF6.2
2023-01-018
OAAI
Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A.; Nizon, Mathilde; Cogne, Benjamin; Abu Jamra, Rami; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonniere, Roger; Magry, Virginie; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Melegh, Bela; Szabo, Andras; Sumegi, Katalin; Cossee, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
GENETICS IN MEDICINE
IF6.2
2023-01-014
OAAI
Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y., V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, Francois; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T.; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E.; Ercan-Sencicek, A. Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C.; Redman, Melody; Stegmann, Alexander P. A.; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Muller, Amelie Johanna; Digilio, Maria C.; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N.; Kraus, Alison; Valenzuela, Irene; McLean, Scott D.; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E.; Torti, Erin; Haack, Tobias B.; Prada, Carlos E.; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
BRAIN
IF11.7
2022-10-315
OA
Saffari, Afshin; Kellner, Melanie; Jordan, Catherine; Rosengarten, Helena; Mo, Alisa; Zhang, Bo; Strelko, Oleksandr; Neuser, Sonja; Davis, Marie Y.; Yoshikura, Nobuaki; Futamura, Naonobu; Takeuchi, Tomoya; Nabatame, Shin; Ishiura, Hiroyuki; Tsuji, Shoji; Aldeen, Huda Shujaa; Cali, Elisa; Rocca, Clarissa; Houlden, Henry; Efthymiou, Stephanie; Assmann, Birgit; Yoon, Grace; Trombetta, Bianca A.; Kivisakk, Pia; Eichler, Florian; Nan, Haitian; Takiyama, Yoshihisa; Tessa, Alessandra; Santorelli, Filippo M.; Sahin, Mustafa; Blackstone, Craig; Yang, Edward; Schuele, Rebecca; Ebrahimi-Fakhari, Darius
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

杂合的UCHL1功能丧失变体导致神经退行性疾病，伴有痉挛，共济失调，神经病和视神经萎缩

GENETICS IN MEDICINE
IF6.2
2022-10-0111
OAAI
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
GENETICS IN MEDICINE
IF6.2
2022-10-014
OAAI
Cali, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Celik, Tamer; Narli, Nejat; Bianca, Sebastiano; Murphy, David; Moreira, Francisco Martins De Carvalho; Accogli, Andrea; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Sahin, Yavuz; Al-Gazali, Lihadh; Warde, Marie Therese Abi; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2022-07-193
OAAI
Borgia, Paola; Baldassari, Simona; Pedemonte, Nicoletta; Alkhunaizi, Ebba; D'Onofrio, Gianluca; Tortora, Domenico; Cali, Elisa; Scudieri, Paolo; Balagura, Ganna; Musante, Ilaria; Diana, Maria Cristina; Pedemonte, Marina; Vari, Maria Stella; Iacomino, Michele; Riva, Antonella; Chimenz, Roberto; Mangano, Giuseppe D.; Mohammadi, Mohammad Hasan; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Accogli, Andrea; Schiaffino, Maria Cristina; Maghnie, Mohamad; Soler, Miguel Angel; Echiverri, Karl; Abrams, Charles K.; Striano, Pasquale; Fortuna, Sara; Maroofian, Reza; Houlden, Henry; Zara, Federico; Fiorillo, Chiara; Salpietro, Vincenzo
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

CHKA中的双等位基因变体导致癫痫和小头畸形的神经发育障碍

BRAIN
IF11.7
2022-02-245
OA
Kloeckner, Chiara; Murray, J. Pedro Fernandez; Tavasoli, Mahtab; Sticht, Heinrich; Stoltenburg-Didinger, Gisela; Scholle, Leila Motlagh; Bakhtiari, Somayeh; Kruer, Michael C.; Darvish, Hossein; Firouzabadi, Saghar Ghasemi; Pagnozzi, Alex; Shukla, Anju; Girisha, Katta Mohan; Narayanan, Dhanya Lakshmi; Kaur, Parneet; Maroofian, Reza; Zaki, Maha S.; Noureldeen, Mahmoud M.; Merkenschlager, Andreas; Gburek-Augustat, Janina; Cali, Elisa; Banu, Selina; Nahar, Kamrun; Efthymiou, Stephanie; Houlden, Henry; Abou Jamra, Rami; Williams, Jason; McMaster, Christopher R.; Platzer, Konrad
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
BRAIN
IF11.7
2021-08-092
OAAI
Salsench, Eva Medico; Maroofian, Reza; Deng, Ruizhi; Lanko, Kristina; Nikoncuk, Anita; Perez, Belen; Sanchez-Lijarcio, Obdulia; Ibanez-Mico, Salvador; Wojcik, Antonina; Vargas, Marcelo; Al-Sannaa, Nouriya Abbas; Girgis, Marian Y.; Silveira, Taina Regina Damaceno; Bauer, Peter; Schroeder, Audrey; Fong, Chin-To; Begtrup, Amber; Babaei, Meisam; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Doosti, Mohammad; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Karimiani, Ehsan Ghayoor; Murphy, David; Cali, Elisa; Kaya, Ibrahim H.; AlMuhaizea, Mohammad; Colak, Dilek; Cardona-Londono, Kelly J.; Arold, Stefan T.; Houlden, Henry; Bertoli-Avella, Aida; Kaya, Namik; Barakat, Tahsin Stefan

研究方向

暂未获取到该数据
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
R
Reza Maroofian
H 指数:40论文数:319被引数:5,857
C
Clarissa Rocca
H 指数:13论文数:50被引数:676
S
Stéphanie Efthymiou
H 指数:34论文数:238被引数:4,486
P
Pasquale Striano
H 指数:86论文数:1,383被引数:3.2万
V
Vincenzo Salpietro
H 指数:40论文数:198被引数:6,106
D
David Murphy
H 指数:24论文数:95被引数:2,048
M
Mehran Beiraghi Toosi
H 指数:17论文数:121被引数:1,055
E
Ehsan Ghayoor Karimiani
H 指数:27论文数:152被引数:2,519
E
Evangelia Galanaki
H 指数:4论文数:8被引数:64