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

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

一项全国基因组测序计划中,33924个罕见病家庭的倒位效应研究

Alistair T Pagnamenta ,Jing Yu ,Susan Walker ,Alexandra J Noble ,Jenny Lord ,Prasun Dutta ,Mona Hashim ,Carme Camps ,Hannah Green ,Smrithi Devaiah ,Lina Nashef ,Jason Parr ,Carl Fratter ,Rana Ibnouf Hussein ,Sarah J Lindsay ,Fiona Lalloo ,Benito Banos-Pinero ,David Evans ,Lucy Mallin ,Adrian Waite ,Julie Evans ,Andrew Newman ,Zoe Allen ,Cristina Perez-Becerril ,Gavin Ryan ,Rachel Hart ,John Taylor ,Tina Bedenham ,Emma Clement ,Ed Blair ,Eleanor Hay ,Francesca Forzano ,Jenny Higgs ,Natalie Canham ,Anirban Majumdar ,Meriel McEntagart ,Nayana Lahiri ,Helen Stewart ,Sarah Smithson ,Eduardo Calpena ,Adam Jackson ,Siddharth Banka ,Hannah Titheradge ,Ruth McGowan ,Julia Rankin ,Charles Shaw-Smith ,D Gareth Evans ,George J Burghel ,Miriam J Smith ,Emily Anderson ,Rajesh Madhu ,Helen Firth ,Sian Ellard ,Paul Brennan ,Claire Anderson ,Doug Taupin ,Mark T Rogers ,Jackie A Cook ,Miranda Durkie ,James E East ,Darren Fowler ,Louise Wilson ,Rebecca Igbokwe ,Alice Gardham ,Ian Tomlinson ,Diana Baralle ,Holm H Uhlig ,Jenny C Taylor

Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders

社论:罕见神经发育障碍的重叠表型和遗传异质性

Cogliati, Francesca; Forzano, Francesca; Russo, Silvia

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9

在患有ALDH18A1相关遗传性痉挛性截瘫SPG9的新家族中进行P5CS表达研究

Magini, Pamela; Marco-Marin, Clara; Escamilla-Honrubia, Juan M; Martinelli, Diego; Dionisi-Vici, Carlo; Faravelli, Francesca; Forzano, Francesca; Seri, Marco; Rubio, Vicente; Panza, Emanuele

Craniofacial characteristics of fragile X syndrome in mouse and man

小鼠和人类脆性X综合征的颅面特征

Heulens, Inge; Suttie, Michael; Postnov, Andrei; De Clerck, Nora; Perrotta, Concetta S; Mattina, Teresa; Faravelli, Francesca; Forzano, Francesca; Kooy, R Frank; Hammond, Peter

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

Wolf-Hirschhorn综合征的精细面部表型-基因型分析

Hammond, Peter; Hannes, Femke; Suttie, Michael; Devriendt, Koen; Vermeesch, Joris Robert; Faravelli, Francesca; Forzano, Francesca; Parekh, Susan; Williams, Steve; McMullan, Dominic; South, Sarah T; Carey, John C; Quarrell, Oliver

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

一组歌舞伎综合征患者的MLL2基因突变谱

Micale, Lucia; Augello, Bartolomeo; Fusco, Carmela; Selicorni, Angelo; Loviglio, Maria N; Silengo, Margherita Cirillo; Reymond, Alexandre; Gumiero, Barbara; Zucchetti, Federica; D'Addetta, Ester V; Belligni, Elga; Calcagnì, Alessia; Digilio, Maria C; Dallapiccola, Bruno; Faravelli, Francesca; Forzano, Francesca; Accadia, Maria; Bonfante, Aldo; Clementi, Maurizio; Daolio, Cecilia; Douzgou, Sofia; Ferrari, Paola; Fischetto, Rita; Garavelli, Livia; Lapi, Elisabetta; Mattina, Teresa; Melis, Daniela; Patricelli, Maria G; Priolo, Manuela; Prontera, Paolo; Renieri, Alessandra; Mencarelli, Maria A; Scarano, Gioacchino; della Monica, Matteo; Toschi, Benedetta; Turolla, Licia; Vancini, Alessandra; Zatterale, Adriana; Gabrielli, Orazio; Zelante, Leopoldo; Merla, Giuseppe