日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications

FLVCR2 功能减弱变异体导致中度转运缺陷,引起脑积水综合征伴脑钙化。

Scala, Marcello; Leong, Nancy C P; Uyen Le, Thanh Nha; Zhang, Yu; Wu, Yichang; Severino, Mariasavina; Madia, Francesca; Shams Nosrati, Mohammad Sadegh; Dostmohammadi, Alireza; Capra, Valeria; Paladini, Dario; Buffelli, Francesca; Fulcheri, Ezio; Cappato, Serena; Menta, Ludovica; Bocciardi, Renata; Zara, Federico; Nguyen, Long N

HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome

HLH合并脊髓神经纤维瘤:一例DiGeorge综合征患者的病例报告

Tallone, Ramona; Micalizzi, Concetta; Faraci, Maura; De Marco, Patrizia; Capra, Valeria; Beccaria, Andrea; Livellara, Virginia; Arkhangelskaya, Elena; Ramaglia, Antonia; Ronchetto, Patrizia; Ognibene, Marzia; Bono, Maria; Muraca, Monica; Vellone, Valerio Gaetano; Rebuffi, Chiara; Marcenaro, Stefania; Pelanconi, Lisa; Haupt, Riccardo; Dufour, Carlo; Strati, Marina Francesca; Merlo, Silvia

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1

双重罕见基因变异:一例患有SBIDDS综合征和1型瓜氨酸血症的儿童病例报告

Boeri, Silvia; Siri, Laura; Martinez Popple, Marina; Capra, Valeria; Romano, Ferruccio; Fedi, Caterina; Nobili, Lino

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

DNM1相关疾病的特征是反复出现的变异和表型同质性。

Harrison, Alicia G; Ganesan, Shiva; Xie, Hongbo M; Parthasarathy, Shridhar; McKee, Jillian L; Magielski, Jan H; Thalwitzer, Kim; Lobo, Rohit; Pendziwiat, Manuela; van Baalen, Andreas; Muhle, Hiltrud; Poduri, Annapurna; Mo, Alisa; Wiegand, Gert; Õunap, Katrin; Bruel, Ange-Line; Scala, Marcello; Capra, Valeria; Ruggiero, Sarah M; Helbig, Ingo

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Telethon 未确诊疾病项目:以结构化方法解决罕见的儿童期发病遗传疾病

Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Castello, Raffaele; Zanobio, Mariateresa; Piluso, Giulio; Di Letto, Pasquale; Onore, Maria Elena; Rahman, Sarah Iffat; Musacchia, Francesco; Pinelli, Michele; Vitiello, Giuseppina; De Riso, Giulia; Selicorni, Angelo; Mariani, Milena; Daolio, Cecilia; Capra, Valeria; Scala, Marcello; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Manti, Filippo; Milani, Donatella; Romano, Corrado; Greco, Donatella; Ciaccio, Claudia; D'Arrigo, Stefano; De Laurentiis, Arianna; Coppola, Antonietta; Zollino, Marcella; Pasquetti, Domizia; L'Erario, Federica Francesca; Tummolo, Albina; Santoro, Claudia; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Tirozzi, Alfonsina; Cetrangolo, Viviana; Parenti, Giancarlo; Di Bernardo, Diego; Peron, Angela; Maitz, Silvia; Accogli, Andrea; Cappuccio, Gerarda; Banfi, Sandro; Casari, Giorgio; Ballabio, Andrea; Brunetti-Pierri, Nicola; Nigro, Vincenzo

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis

NF2相关神经鞘瘤病患儿胸膜间皮瘤的遗传图谱

Ognibene, Marzia; Piccolo, Gianluca; Crocco, Marco; Di Duca, Marco; Verrico, Antonio; Molteni, Marta; Romano, Ferruccio; Capra, Valeria; Rossi, Andrea; Zara, Federico; De Marco, Patrizia; Milanaccio, Claudia

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

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

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, Øyvind Løvold; 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

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette