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

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

1p36染色体重复的分子特征和子宫内干扰将ENO1定义为多小脑回畸形的候选基因。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-0659-z
El Waly, Bilal; Mignon-Ravix, Cécile; Cacciagli, Pierre; Buhler, Emmanuelle; Ben Zeev, Bruria; Villard, Laurent
神经科学
发表日期：2020
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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

CNV在罕见常染色体隐性遗传病病因学中的作用：以TRAPPC9相关智力障碍为例

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-017-0018-x
Mortreux, Jérémie; Busa, Tiffany; Germain, Dominique P; Nadeau, Gwenaël; Puechberty, Jacques; Coubes, Christine; Gatinois, Vincent; Cacciagli, Pierre; Duffourd, Yannis; Pinard, Jean-Marc; Tevissen, Hélène; Villard, Laurent; Sanlaville, Damien; Philip, Nicole; Missirian, Chantal
APP
发表日期：2018
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Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

男性患者WDR45缺失的首发临床表现为早发性癫痫性脑病

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2015.159
Abidi, Affef; Mignon-Ravix, Cécile; Cacciagli, Pierre; Girard, Nadine; Milh, Mathieu; Villard, Laurent
癫痫
神经科学
发表日期：2016
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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

纯合PTPRD基因微缺失导致三角头畸形、听力丧失和智力障碍的证据

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-015-0149-0
Choucair, Nancy; Mignon-Ravix, Cecile; Cacciagli, Pierre; Abou Ghoch, Joelle; Fawaz, Ali; Mégarbané, André; Villard, Laurent; Chouery, Eliane
TPR
发表日期：2015
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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

拷贝数变异（CNV）对黎巴嫩患者先天性、不明原因智力和发育障碍的影响

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-015-0130-y
Choucair, Nancy; Ghoch, Joelle Abou; Corbani, Sandra; Cacciagli, Pierre; Mignon-Ravix, Cecile; Salem, Nabiha; Jalkh, Nadine; El Sabbagh, Sandra; Fawaz, Ali; Ibrahim, Tony; Villard, Laurent; Mégarbané, André; Chouery, Eliane
发育与干细胞
发表日期：2015
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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

AP1S2 基因突变会导致 X 连锁 Dandy-Walker 畸形，伴有智力障碍、基底神经节疾病和癫痫发作（佩蒂格鲁综合征）。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2013.135
Cacciagli, Pierre; Desvignes, Jean-Pierre; Girard, Nadine; Delepine, Marc; Zelenika, Diana; Lathrop, Mark; Lévy, Nicolas; Ledbetter, David H; Dobyns, William B; Villard, Laurent
癫痫
神经科学
发表日期：2014
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Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

BCAP31 基因突变会导致严重的 X 连锁表型，表现为耳聋、肌张力障碍、中枢髓鞘形成不足，并破坏高尔基体

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.07.023
Cacciagli Pierre, Sutera-Sardo Julie, Borges-Correia Ana, Roux Jean-Christophe, Dorboz Imen, Desvignes Jean-Pierre, Badens Catherine, Delepine Marc, Lathrop Mark, Cau Pierre, Lévy Nicolas, Girard Nadine, Sarda Pierre, Boespflug-Tanguy Odile, Villard Laurent
神经科学
发表日期：2013
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

KIAA2022功能丧失会导致轻度至重度智力障碍，伴有自闭症谱系障碍，并损害神经突生长。

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddt187
Van Maldergem, Lionel; Hou, Qingming; Kalscheuer, Vera M; Rio, Marlène; Doco-Fenzy, Martine; Medeira, Ana; de Brouwer, Arjan P M; Cabrol, Christelle; Haas, Stefan A; Cacciagli, Pierre; Moutton, Sébastien; Landais, Emilie; Motte, Jacques; Colleaux, Laurence; Bonnet, Céline; Villard, Laurent; Dupont, Juliette; Man, Heng-Ye
自闭症
神经科学
发表日期：2013
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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

ATP8A2基因在具有at(10;13)新生平衡易位和严重神经系统表型的患者中发生破坏

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2010.126
Cacciagli, Pierre; Haddad, Marie-Reine; Mignon-Ravix, Cécile; El-Waly, Bilal; Moncla, Anne; Missirian, Chantal; Chabrol, Brigitte; Villard, Laurent
发表日期：2010
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