Velasco Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodriguez-Sanchez, Maria A.; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, Irene; Rekleiti, Anna; Salvo, Alessandra; Voi, Vincenzo; Ferrero, Giovanni Battista; Mandrile, Giorgia; Gaglioti, Carmen Maria; Cela, Elena; Ponce-Salas, Beatriz; Bardon-Cancho, Eduardo J.; Flevari, Pagona; Voskaridou-Dimoula, Ersi; Nur, Erfan; Biemond, Bart J.; Delaporta, Polynexi; Beneitez-Pastor, David; Collado Gimbert, Anna; Spasiano, Anna; Besse-Hammer, Tatiana; Lafiatis, Ioannis G.; Dedeken, Laurence; Raso, Simona; Ruiz-Llobet, Anna; Bagnato, Sabrina; Labarque, Veerle; Glenthoj, Andreas; Ruffo, Giovan Battista; Guerzoni, Maria Elena; Hafraoui, Kaoutar; Pistoia, Laura; Rosso, Rosamaria; Tagliaferri, Laura; Gonzalez-Urdiales, Paula; Benghiat, Fleur Samantha; de Montalembert, Mariane; Teles, Maria Jose; Vanderfaeillie, Anna; Bertoni, Elisa; Cuzzubbo, Daniela; Ferreira, Teresa; Saunders, Christopher J.; Stiakaki, Eftichia; van de Velde, Ann L.; Diamantidis, Michael D.; Kerkhoffs, Jean-Louis H.; Oliveira, Marisa I.; Quota, Alessandra; Russo, Roberta; Van Damme, An; Argueello Marina, Maria; Lorite Reggiori, Mikael; Rijneveld, Anita W.; Rodriguez Gallego, Alexis; Colombatti, Raffaella; Iolascon, Achille; Taher, Ali; Gulbis, Beatrice; Roy, Noemi B. A.; Manu-Pereira, Maria del Mar

Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1

KIDNEY INTERNATIONAL REPORTS

IF5.7

2024-10-010

OAAI

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

双等位基因PI4KA突变破坏b细胞代谢并导致b细胞淋巴细胞减少和低丙种球蛋白血症

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2024-09-231

PRE

Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G.; Adam, Margaret P.; Adams, David; Baple, Emma L.; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H.; D'Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martin-Nalda, Andrea; Mefford, Heather C.; Moratto, Daniele; Mousavi, Fatemeh Emam; Nelson, Zoe; Gutierrez-Solana, Luis Gonzalez; Macnamara, Ellen; Michaud, Vincent; O'Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D.; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; Stoddard, Jennifer L.; Uhlig, Holm H.; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-07-010

OAAI

Trajkova, Slavica; Kerkhof, Jennifer; Sebastiano, Matteo Rossi; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M.; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo

Identification of the DNA methylation signature of Mowat-Wilson syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-02-132

OAAI

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

KIDNEY INTERNATIONAL REPORTS

IF5.7

2023-10-017

OAAI

Metry, Elisabeth L.; Garrelfs, Sander F.; Deesker, Lisa J.; Acquaviva, Cecile; D'Ambrosio, Viola; Bacchetta, Justine; Beck, Bodo B.; Cochat, Pierre; Collard, Laure; Hogan, Julien; Ferraro, Pietro Manuel; Franssen, Casper F. M.; Harambat, Jerome; Hulton, Sally-Anne; Lipkin, Graham W.; Mandrile, Giorgia; Martin-Higueras, Cristina; Mohebbi, Nilufar; Moochhala, Shabbir H.; Neuhaus, Thomas J.; Prikhodina, Larisa; Salido, Eduardo; Topaloglu, Rezan; Oosterveld, Michiel J. S.; Groothoff, Jaap W.; Peters-Sengers, Hessel

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

在未解决的神经发育疾病病例中偏斜的X染色体失活可以指导对X连锁基因的重新评估

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-03-0614

Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D.; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-02-017

OAAI

Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M.

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

原发性高草酸尿症的临床实践建议: ERKNet和OxalEurope的专家共识声明

NATURE REVIEWS NEPHROLOGY

IF39.8

2023-01-0562