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

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant

双侧睾丸退化综合征和视神经萎缩:一名患有<italic>SEMA3E</italic>功能丧失变异的儿童的临床表现

Wankanit, Somboon; Elzaiat, Maëva; Talouarn, Estelle; Schlick, Laurène; Bashamboo, Anu; McElreavey, Ken; Brauner, Raja

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

儿童多系统炎症综合征(MIS-C)患者的杂合BTNL8变异

Evangelos Bellos # ,Dilys Santillo # ,Pierre Vantourout ,Heather R Jackson ,Amedine Duret ,Henry Hearn ,Yoann Seeleuthner ,Estelle Talouarn ,Stephanie Hodeib ,Harsita Patel ,Oliver Powell ,Sophya Yeoh ,Sobia Mustafa ,Dominic Habgood-Coote ,Samuel Nichols ,Leire Estramiana Elorrieta ,Giselle D'Souza ,Victoria J Wright ,Diego Estrada-Rivadeneyra ,Adriana H Tremoulet ,Kirsten B Dummer ,Stejara A Netea ,Antonio Condino-Neto ,Yu Lung Lau ,Esmeralda Núñez Cuadros ,Julie Toubiana ,Marisol Holanda Pena ,Frédéric Rieux-Laucat ,Charles-Edouard Luyt ,Filomeen Haerynck ,Jean Louis Mège ,Samya Chakravorty ,Elie Haddad ,Marie-Paule Morin ,Özge Metin Akcan ,Sevgi Keles ,Melike Emiroglu ,Gulsum Alkan ,Sadiye Kübra Tüter Öz ,Sefika Elmas Bozdemir ,Guillaume Morelle ,Alla Volokha ,Yasemin Kendir-Demirkol ,Betul Sözeri ,Taner Coskuner ,Aysun Yahsi ,Belgin Gulhan ,Saliha Kanik-Yuksek ,Gulsum Iclal Bayhan ,Aslinur Ozkaya-Parlakay ,Osman Yesilbas ,Nevin Hatipoglu ,Tayfun Ozcelik ,Alexandre Belot ,Emilie Chopin ,Vincent Barlogis ,Esra Sevketoglu ,Emin Menentoglu ,Zeynep Gokce Gayretli Aydin ,Marketa Bloomfield ,Suzan A AlKhater ,Cyril Cyrus ,Yuriy Stepanovskiy ,Anastasiia Bondarenko ,Fatma Nur Öz ,Meltem Polat ,Jiří Fremuth ,Jan Lebl ,Amyrath Geraldo ,Emmanuelle Jouanguy ,Paul Wellman ,Mark Peters ,Rebeca Pérez de Diego ,Lindsey Ann Edwards ,Christopher Chiu ,Mahdad Noursadeghi ,Alexandre Bolze ,Chisato Shimizu ,Myrsini Kaforou ,Melissa Shea Hamilton ,Jethro A Herberg ,Erica G Schmitt ,Agusti Rodriguez-Palmero ,Aurora Pujol ,Jihoon Kim ,Aurélie Cobat ,Laurent Abel ,Shen-Ying Zhang ,Jean-Laurent Casanova ,Taco W Kuijpers ,Jane C Burns ,Michael Levin ,Adrian C Hayday ,Vanessa Sancho-Shimizu

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

人类UNC93B1基因功能获得性变异可导致系统性红斑狼疮和冻疮性红斑狼疮。

Clémence David ,Carlos A Arango-Franco # ,Mihaly Badonyi # ,Julien Fouchet # ,Gillian I Rice ,Blaise Didry-Barca ,Lucie Maisonneuve ,Luis Seabra ,Robin Kechiche ,Cécile Masson ,Aurélie Cobat ,Laurent Abel ,Estelle Talouarn ,Vivien Béziat ,Caroline Deswarte ,Katie Livingstone ,Carle Paul ,Gulshan Malik ,Alison Ross ,Jane Adam ,Jo Walsh ,Sathish Kumar ,Damien Bonnet ,Christine Bodemer ,Brigitte Bader-Meunier ,Joseph A Marsh ,Jean-Laurent Casanova ,Yanick J Crow ,Bénédicte Manoury # ,Marie-Louise Frémond # ,Jonathan Bohlen # ,Alice Lepelley #

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

更正:罕见的I型干扰素免疫基因功能丧失预测变异与危及生命的COVID-19相关。

Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T; Bustos, Ingrid G; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaïbi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E; Delmonte, Ottavia M; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarström, Lennart; Hatipoğlu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christèle; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarström, Qiang; de Diego, Rebeca Pérez; Planas-Serra, Laura; Pleguezuelo, Daniel E; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Rivière, Jacques G; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlüter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M; Baris-Feldman, Hagit; Butte, Manish J; Constantinescu, Stefan N; Cooper, Megan A; Dalgard, Clifton L; Fellay, Jacques; Heath, James R; Lau, Yu-Lung; Lifton, Richard P; Maniatis, Tom; Mogensen, Trine H; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-François; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D; Boisson-Dupuis, Stephanie; Su, Helen C; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurélie

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

I 型干扰素免疫基因的罕见预测功能丧失变异与危及生命的 COVID-19 相关

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti,

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

患有危及生命的 COVID-19 的 60 岁以下男性中,约 1% 患有 X 连锁隐性 TLR7 缺陷

Takaki Asano #, Bertrand Boisson #, Fanny Onodi #, Daniela Matuozzo #, Marcela Moncada-Velez #, Majistor Raj Luxman Maglorius Renkilaraj #, Peng Zhang #, Laurent Meertens #, Alexandre Bolze #, Marie Materna #, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, 

VarGoats project: a dataset of 1159 whole-genome sequences to dissect Capra hircus global diversity

VarGoats项目:一个包含1159个全基因组序列的数据集,用于解析山羊(Capra hircus)的全球多样性

Denoyelle, Laure; Talouarn, Estelle; Bardou, Philippe; Colli, Licia; Alberti, Adriana; Danchin, Coralie; Del Corvo, Marcello; Engelen, Stéfan; Orvain, Céline; Palhière, Isabelle; Rupp, Rachel; Sarry, Julien; Salavati, Mazdak; Amills, Marcel; Clark, Emily; Crepaldi, Paola; Faraut, Thomas; Masiga, Clet Wandui; Pompanon, François; Rosen, Benjamin D; Stella, Alessandra; Van Tassell, Curtis P; Tosser-Klopp, Gwenola

Genome wide association analysis on semen volume and milk yield using different strategies of imputation to whole genome sequence in French dairy goats

利用不同的全基因组序列插补策略,对法国奶山羊的精液量和产奶量进行全基因组关联分析

Talouarn, Estelle; Bardou, Philippe; Palhière, Isabelle; Oget, Claire; Clément, Virginie; Tosser-Klopp, Gwenola; Rupp, Rachel; Robert-Granié, Christèle