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

Idiopathic Pulmonary Fibrosis: Analysis of Predisposing Variants in Patients with Familial Forms

特发性肺纤维化:家族性患者易感变异分析

Stanghellini, Ilaria; Bonora, Elena; Sebastiani, Marco; Salvarani, Carlo; Gozzi, Filippo; Andrisani, Dario; Tonelli, Roberto; Rizzardi, Nicola; Bergamini, Christian; Isidori, Federica; Seri, Marco; Clini, Enrico; Cerri, Stefania; Calabrese, Olga

Distribution of Sequencing Coverage Gaps in Exomes and Genomes: Potential Implications for Diagnostic Accuracy in Neurodevelopmental Disorder Genes

外显子组和基因组测序覆盖率缺口的分布:对神经发育障碍基因诊断准确性的潜在影响

Iovino, Emanuela; De Masi, Claudia; Ballestrazzi, Anna; Mattiaccio, Alessandro; Isidori, Federica; Seri, Marco; Pippucci, Tommaso

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

DDX17基因的单等位基因新生突变会导致神经发育障碍

Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D'Arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco L; Koboldt, Daniel C; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan M; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril F; Ennis, Sarah

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk Prognostication

综合运用常染色体显性多囊肾病预测工具进行风险预后评估

Wolff, Constantin A; Aiello, Valeria; Elhassan, Elhussein A E; Cristalli, Carlotta; Lerario, Sarah; Paccapelo, Alexandro; Ciurli, Francesca; Montanari, Francesca; Conti, Amalia; Benson, Katherine; Seri, Marco; Brigl, Carolin B; Münster, Julia S; Sciascia, Nicola; Kursch, Sebastian; de Fallois, Jonathan; La Manna, Gaetano; Eckardt, Kai-Uwe; Rank, Nina; Popp, Bernt; Schönauer, Ria; Conlon, Peter J; Capelli, Irene; Halbritter, Jan

Experience and role of Italian nurses working in genetic clinics: a descriptive phenomenological qualitative study

意大利护士在遗传诊所的工作经验和角色:一项描述性现象学定性研究

Godino, Lea; Magi, Camilla Elena; Bruzzone, Carla; Bonora, Stefano; Seri, Marco; Varesco, Liliana; Turchetti, Daniela

The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies

精神分裂症遗传负荷和大量使用大麻对欧盟基因工程研究所病例对照研究和英国生物银行研究中精神病性障碍风险的影响

Austin-Zimmerman, Isabelle; Spinazzola, Edoardo; Quattrone, Diego; Wu-Choi, Beatrice; Trotta, Giulia; Li, Zhikun; Johnson, Emma; Richards, Alexander L; Freeman, Tom P; Tripoli, Giada; Gayer-Anderson, Charlotte; Rodriguez, Victoria; Jongsma, Hannah E; Ferraro, Laura; La Cascia, Caterina; Tosato, Sarah; Tarricone, Ilaria; Berardi, Domenico; Bonora, Elena; Seri, Marco; D'Andrea, Giuseppe; Szöke, Andrei; Arango, Celso; Bobes, Julio; Sanjuán, Julio; Santos, Jose Luis; Arrojo, Manuel; Velthorst, Eva; Bernardo, Miguel; Del-Ben, Cristina Marta; Rossi Menezes, Paulo; Selten, Jean-Paul; Jones, Peter B; Kirkbride, James B; Rutten, Bart P F; Tortelli, Andrea; Llorca, Pierre-Michel; de Haan, Lieuwe; Stilo, Simona; La Barbera, Daniele; Lasalvia, Antonio; Schurnhoff, Franck; Pignon, Baptiste; van Os, Jim; Lynskey, Michael; Morgan, Craig; O' Donovan, Michael; Lewis, Cathryn M; Sham, Pak C; Murray, Robin M; Vassos, Evangelos; Di Forti, Marta

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene

ODLURO综合征患者的表型描述及KMT2E基因同义变异c.186G>A致病作用的功能表征

Benvenuto, Mario; Cesarini, Sofia; Severi, Giulia; Ambrosini, Enrico; Russo, Angelo; Seri, Marco; Palumbo, Pietro; Palumbo, Orazio; Castori, Marco; Panza, Emanuele; Carella, Massimo

A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19

一名患有婴儿癫痫的男童,其病因是PCDH19基因的嵌合错义变异

Parmeggiani, Giulia; Minardi, Raffaella; Boni, Antonella; Pruccoli, Jacopo; Pini, Antonella; Licchetta, Laura; Bisulli, Francesca; Graziano, Claudio; Seri, Marco

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

SRSF1单倍体不足是导致一种与智力障碍相关的综合征性发育障碍的原因。

Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio