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

International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease

国际小鼠表型分析联盟门户网站:促进基因功能研究,并为人类疾病研究提供见解

Wilson, Robert; Bülbül Ataç, Tuğba; Cheng, Tsz Kwan; Frost, Anthony; Güneş, Osman; Kan, Marina; Keskivali-Bond, Piia; López Gómez, Federico; McLaughlin, James; Mucha, Jakub; Munava, Tawanda; Oliveira, Carla; Pava, Diego; Peña Estrada, Jose Francisco; Selkirk, Ewan; Vardal, Bora; Wells, Sara; Cacheiro, Pilar; Smedley, Damian; Parkinson, Helen

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

CTLH 成分 MAEA 的缺失会损害 DNA 修复和复制,并导致发育迟缓。

Hough Søren H, Jhujh Satpal S, Awwad Samah W, Lewis Oliver E, Lam Simon, Thomas John C, Mosler Thorsten, Bader Aldo, Bartik Lauren, McKee Shane, Amudhavalli Shivarajan, Colin Estelle, Damseh Nadirah, Clement Emma, Cacheiro Pilar, Majumdar Anirban, Smedley Damian, Fluss Joël, Giannini Rosalinda, Thiffault Isabelle, Zagnoli Vieira Guido, Belotserkovskaya Rimma, Smerdon Stephen J, Beli Petra, Galanty Yaron, Carnie Christopher J, Stewart Grant S, Jackson Stephen P

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

Difficulties in Diagnosing Gastric Adenocarcinoma of the Cervix: A Clinical Case and Literature Review

宫颈胃腺癌诊断的难点:一例临床病例及文献综述

Gonzalez-Bosquet, Eduardo; Gonzalez, Santiago; Ortiz Peidro, Laia; Sousa Cacheiro, Sousa Cacheiro; Rojo Muchacho, Leornardo A

MorPhiC Consortium: towards functional characterization of all human genes

MorPhiC联盟:迈向所有人类基因的功能表征

Adli, Mazhar; Przybyla, Laralynne; Burdett, Tony; Burridge, Paul W; Cacheiro, Pilar; Chang, Howard Y; Engreitz, Jesse M; Gilbert, Luke A; Greenleaf, William J; Hsu, Li; Huangfu, Danwei; Hung, Ling-Hong; Kundaje, Anshul; Li, Sheng; Parkinson, Helen; Qiu, Xiaojie; Robson, Paul; Schürer, Stephan C; Shojaie, Ali; Skarnes, William C; Smedley, Damian; Studer, Lorenz; Sun, Wei; Vidović, Dušica; Vierbuchen, Thomas; White, Brian S; Yeung, Ka Yee; Yue, Feng; Zhou, Ting

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

GA4GH表型包语料库:用于基因组诊断和发现的病例级表型分析

Danis, Daniel; Bamshad, Michael J; Bridges, Yasemin; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Carmody, Leigh C; Chimirri, Leonardo; Chong, Jessica X; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J; Graefe, Adam S L; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S; Marcello, Allison J; Mattina, Teresa; Mungall, Christopher J; Munoz-Torres, Monica C; Reese, Justin T; Rehburg, Filip; Reis, Bárbara C S; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F; Zocche, David; Haendel, Melissa A; Robinson, Peter N

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam Sl; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert Ba; Dingemans, Alexander Jm; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schütz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease

国际小鼠表型分析联盟:研究基因功能并为人类疾病提供见解

Wilson, Robert; Ataç, Tuğba Bülbül; Cheng, Tsz Kwan; Frost, Anthony; Güneş, Osman; Kan, Marina; Keskivali-Bond, Piia; Gómez, Federico López; McLaughlin, James; Mucha, Jakub; Munava, Tawanda; Oliveira, Carla; Pava, Diego; Estrada, Jose Francisco Peña; Selkirk, Ewan; Vardal, Bora; Wells, Sara; Cacheiro, Pilar; Smedley, Damian; Parkinson, Helen

Lethal phenotypes in Mendelian disorders

孟德尔遗传病中的致死表型

Cacheiro, Pilar; Lawson, Samantha; Van den Veyver, Ignatia B; Marengo, Gabriel; Zocche, David; Murray, Stephen A; Duyzend, Michael; Robinson, Peter N; Smedley, Damian

Computational identification of disease models through cross-species phenotype comparison

通过跨物种表型比较进行疾病模型的计算识别

Cacheiro, Pilar; Pava, Diego; Parkinson, Helen; VanZanten, Maya; Wilson, Robert; Gunes, Osman; The International Mouse Phenotyping Consortium; Smedley, Damian