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

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

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

无丙种球蛋白血症患者的自我报告临床结果和生活质量:早期诊断的重要性

Blom, Maartje; Duintjer, Annelotte J; Jamee, Mahnaz; de Gier, Melanie; Bloomfield, Markéta; Klocperk, Adam; Kralickova, Pavlina; Karaca, Neslihan E; Boyarchuk, Oksana; Čižnár, Peter; Jeseňák, Miloš; Sharapova, Svetlana; Skopovets, Ekaterina; Gonzalez-Granado, Luis I; Palmeri, Serena; Volpi, Stefano; Nalda, Andrea Martin; Tello, Sonia Rodriguez; Soler-Palacín, Pere; Abolhassani, Hassan; Pulvirenti, Federica; Cinicola, Bianca; Wintergerst, Uwe; de Bree, Godelieve J; van den Berg, J Merlijn; Leavis, Helen L; Vermont, Clementien; Dalm, Virgil A S H; van Aerde, Koen; Henriet, Stefanie; Jolink, Hetty; Potjewijd, Judith; Lankester, Arjan; Mukherjee, Chandoshi Rhea; Berghuis, Dagmar; Pac, Małgorzata; Shillitoe, Benjamin M J; Gennery, Andrew R; van der Burg, Mirjam

Correction to: Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

更正:无丙种球蛋白血症患者的自我报告临床结果和生活质量:早期诊断的重要性

Blom, Maartje; Duintjer, Annelotte J; Jamee, Mahnaz; de Gier, Melanie; Bloomfield, Markéta; Klocperk, Adam; Kralickova, Pavlina; Karaca, Neslihan E; Boyarchuk, Oksana; Čižnár, Peter; Jeseňák, Miloš; Sharapova, Svetlana; Skopovets, Ekaterina; Gonzalez-Granado, Luis I; Palmeri, Serena; Volpi, Stefano; Nalda, Andrea Martin; Tello, Sonia Rodriguez; Soler-Palacín, Pere; Abolhassani, Hassan; Pulvirenti, Federica; Cinicola, Bianca; Wintergerst, Uwe; de Bree, Godelieve J; van den Berg, J Merlijn; Leavis, Helen L; Vermont, Clementien; Dalm, Virgil A S H; van Aerde, Koen; Henriet, Stefanie; Jolink, Hetty; Potjewijd, Judith; Lankester, Arjan; Mukherjee, Chandoshi Rhea; Berghuis, Dagmar; Pac, Małgorzata; Shillitoe, Benjamin M J; Gennery, Andrew R; van der Burg, Mirjam

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme

超越TREC:串联TREC/KREC检测在捷克SCID新生儿筛查试点项目中的关键作用

Bloomfield, Markéta; Hlaváčková, Eva; Schneiderová, Helena; Turnovec, Marek; Tichý, Lukáš; Čech, Zbyněk; Chrastina, Petr; Dvořáková, Lenka; Pešková, Karolína; Formánková, Renata; Říha, Petr; Vlková, Marcela; Bejdák, Petr; Havlišová, Magdaléna; Froňková, Eva; Kalina, Tomáš; Bíly, Viktor; Říčná, Dita; Grombiříková, Hana; Sedláček, Petr; Litzman, Jiří; Freiberger, Tomáš; Šedivá, Anna; Klocperk, Adam

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

Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome

XMEN综合征中以自身免疫性血细胞减少症为主的非典型表型和穿孔素表达受损

Grombirikova, Hana; Markocsy, Adam; Kocurkova, Anna; Blatny, Jan; Vlkova, Marcela; Slanina, Peter; Hlavackova, Eva; Fiamoli, Veronika; Schneiderova, Helena; Klocperk, Adam; Ricna, Dita; Fronkova, Eva; Kral, Jan; Salingova, Anna; Jesenak, Milos; Freiberger, Tomas

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

Impact of newborn screening for SCID on the management of congenital athymia

新生儿SCID筛查对先天性无胸腺症管理的影响

Howley, Evey; Golwala, Zainab; Buckland, Matthew; Barzaghi, Federica; Ghosh, Sujal; Hackett, Scott; Hague, Rosie; Hauck, Fabian; Holzer, Ursula; Klocperk, Adam; Koskenvuo, Minna; Marcus, Nufar; Marzollo, Antonio; Pac, Malgorzata; Sinclair, Jan; Speckmann, Carsten; Soomann, Maarja; Speirs, Lynne; Suresh, Sneha; Taque, Sophie; van Montfrans, Joris; von Bernuth, Horst; Wainstein, Brynn K; Worth, Austen; Davies, E Graham; Kreins, Alexandra Y

Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia

严重的T淋巴细胞和DNA修复缺陷是希姆克免疫骨发育不良的特征。

Vladyka, Ondřej; Zieg, Jakub; Pátek, Ondřej; Bloomfield, Markéta; Paračková, Zuzana; Šedivá, Anna; Klocperk, Adam

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; Cacheiro, Pilar; Carmody, Leigh C; Chong, Jessica X; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J; Graefe, Adam S L; Groza, Tudor; Jacobsen, Julius O B; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S; Marcello, Anthony 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