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

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants

与单等位基因ALG8和ALG9致病变异相关的囊性表型的特征

Jawaid, Tabinda; Elbarougy, Doaa E; Lavu, Sravanthi; Buia, Guillaume; Senum, Sarah R; Olinger, Eric; Yang, Hana; McDonnell, Shannon K; Bublitz, Joshua T; Ma, Jun; Audrézet, Marie-Pierre; Madsen, Charles D; Schauer, Rachel S; Baker, Tracy A; Gregory, Adriana V; Orr, Sarah E; Barroso-Gil, Miguel; Neatu, Ruxandra; Joli, Giancarlo; Dahl, Neera K; Kline, Timothy L; Gillion, Valentine; Dahan, Karin; Jouret, Francois; Perrone, Ronald D; Steinman, Theodore I; Peters, Dorien J M; Gitomer, Berenice Y; Watnick, Terry J; Coto, Eliecer; Chebib, Fouad T; Hogan, Marie C; Olson, Janet E; Larson, Nicholas B; Ars, Elisabet; Halbritter, Jan; Demoulin, Nathalie; Torres, Vicente E; Sayer, John A; Cornec-Le Gall, Emilie; Harris, Peter C

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

基于11754例罕见病亲子三联体基因组测序数据的拷贝数分析:一种用于识别常染色体隐性人类基因敲除的模型,包括一种新的常染色体隐性视网膜病变基因

Olinger, Eric; Wilson, Ian J; Orr, Sarah; Barroso-Gil, Miguel; Neatu, Ruxandra; Atan, Denize; Sayer, John A

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome

CEP164基因的双等位基因变异会导致一种类似运动性纤毛病的综合征。

Devlin, Laura A; Coles, Janice; Jackson, Claire L; Barroso-Gil, Miguel; Green, Ben; Walker, Woolf T; Thomas, N Simon; Thompson, James; Rock, Simon A; Neatu, Ruxandra; Powell, Laura; Molinari, Elisa; Wilson, Ian J; Cordell, Heather J; Olinger, Eric; Miles, Colin G; Sayer, John A; Wheway, Gabrielle; Lucas, Jane S

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome

利用全基因组测序确定内脏肌病(包括腹壁皱褶综合征)的遗传基础

Geraghty, Robert M; Orr, Sarah; Olinger, Eric; Neatu, Ruxandra; Barroso-Gil, Miguel; Mabillard, Holly; Consortium, Genomics England Research; Wilson, Ian; Sayer, John A

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

LAMA1基因突变的鉴定结束了漫长的诊断过程,并对疑似Joubert综合征患者的预后具有重要意义。

Powell, Laura; Olinger, Eric; Wedderburn, Sarah; Ramakumaran, Vijayalakshmi Salem; Kini, Usha; Clayton-Smith, Jill; Ramsden, Simon C; Rice, Sarah J; Barroso-Gil, Miguel; Wilson, Ian; Cowley, Lorraine; Johnson, Sally; Harris, Elizabeth; Montgomery, Tara; Bertoli, Marta; Boltshauser, Eugen; Sayer, John A

Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

整合表观基因组学在干燥综合征中揭示了新的通路以及HLA、自身抗体和干扰素特征之间的密切相互作用。

Teruel, María; Barturen, Guillermo; Martínez-Bueno, Manuel; Castellini-Pérez, Olivia; Barroso-Gil, Miguel; Povedano, Elena; Kerick, Martin; Català-Moll, Francesc; Makowska, Zuzanna; Buttgereit, Anne; Pers, Jacques-Olivier; Marañón, Concepción; Ballestar, Esteban; Martin, Javier; Carnero-Montoro, Elena; Alarcón-Riquelme, Marta E

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

NPHP3基因中一个被弃用的同义变异解释了几个家族的肾痨和先天性肝纤维化。

Olinger, Eric; Alawi, Intisar Al; Al Riyami, Mohammed S; Salmi, Isa Al; Molinari, Elisa; Faqeih, Eissa Ali; Al-Hamed, Mohamed H; Barroso-Gil, Miguel; Powell, Laura; Al-Hussaini, Abdulrahman A; Rahim, Khawla A; Almontashiri, Naif A M; Miles, Colin; Shril, Shirlee; Hildebrandt, Friedhelm; Consortium, Genomics England Research; Wilson, Ian J; Sayer, John A

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

CEP120 和 CC2D2A 基因变异的更新——重点关注基因型-表型相关性、组织特异性转录本以及探索突变特异性外显子跳跃疗法

Miguel Barroso-Gil, Eric Olinger, Simon A Ramsbottom, Elisa Molinari, Colin G Miles, John A Sayer

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients

全外显子组测序作为近亲结婚的阿曼肾纤毛病综合征患者的首选诊断方法的诊断率

Al Alawi, Intisar; Al Riyami, Mohammed; Barroso-Gil, Miguel; Powell, Laura; Olinger, Eric; Al Salmi, Issa; Sayer, John A

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

纤毛ARMC9/TOGARAM1蛋白模块功能障碍会导致Joubert综合征。

Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara Ds; Letteboer, Stef Jf; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia Ec; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan Cf; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan