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

Breakpoint-resolved balanced t(2;12)(q35;q24.31) disrupting HNF1A in multigenerational MODY-3: Diagnostic utility of long-read genome sequencing and therapeutic impact

断点解析的平衡性 t(2;12)(q35;q24.31) 易位破坏多代 MODY-3 中的 HNF1A 基因:长读长基因组测序的诊断价值和治疗影响

Rivero-García, Pamela; Mutchinick, Osvaldo M; Huerta-Ávila, Eira; Colorado, Ilse A; Alfonso-López, Cristy; Rivera-Juárez, Renata; Santiago-Cano, Virginia; Morales-Suárez, Juan José; Hidalgo-Miranda, Alfredo; Svyryd, Yevgeniya

A genomic history of the North Pontic Region from the Neolithic to the Bronze Age

从新石器时代到青铜时代的北黑海地区的基因组历史

Nikitin, Alexey G; Lazaridis, Iosif; Patterson, Nick; Ivanova, Svitlana; Videiko, Mykhailo; Dergachev, Valentin; Kotova, Nadiia; Lillie, Malcolm; Potekhina, Inna; Krenz-Niedbała, Marta; Łukasik, Sylwia; Makhortykh, Serhij; Renson, Virginie; Shephard, Henry; Sirbu, Gennadie; Svyryd, Sofiia; Tkachuk, Taras; Włodarczak, Piotr; Callan, Kim; Curtis, Elizabeth; Harney, Eadaoin; Iliev, Lora; Kearns, Aisling; Lawson, Ann Marie; Michel, Megan; Mah, Matthew; Micco, Adam; Oppenheimer, Jonas; Qiu, Lijun; Workman, J Noah; Zalzala, Fatma; Mallick, Swapan; Rohland, Nadin; Reich, David

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency

导致 G6PC3 缺乏症的创始突变的分子和临床特征

Xin Zhen, Michael J Betti, Meltem Ece Kars, Andrew R Patterson, Edgar Alejandro Medina-Torres, Selma Cecilia Scheffler Mendoza, Diana Andrea Herrera Sánchez, Gabriela Lopez-Herrera, Yevgeniya Svyryd, Osvaldo M Mutchinick, Eric R Gamazon, Jeffrey C Rathmell, Yuval Itan, Janet Markle, Patricia O'Farri

Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele

采用贝叶斯多基因风险评估方法对存在不一致同胞对的核心家庭进行脊髓脊膜膨出风险评估

Aguayo-Gómez, Adolfo; Luna-Muñoz, Leonora; Svyryd, Yevgeniya; Muñoz-Téllez, Luis Ángel; Mutchinick, Osvaldo M

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency

导致 G6PC3 缺乏症的创始突变的分子和临床特征

Xin Zhen, Michael Betti, Meltem Ece Kars, Andrew Patterson, Edgar Alejandro Medina-Torres, Selma Cecilia Scheffler Mendoza, Diana Andrea Herrera Sánchez, Gabriela Lopez-Herrera, Yevgeniya Svyryd, Osvaldo Mutchinick, Eric Gamazon, Jeffrey Rathmell, Yuval Itan, Janet Markle, Patricia O'Farrill Romanil

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency

导致 G6PC3 缺乏症的创始突变的分子和临床特征

Xin Zhen, Michael J Betti, Meltem Ece Kars, Andrew Patterson, Edgar Alejandro Medina-Torres, Selma Cecilia Scheffler Mendoza, Diana Andrea Herrera Sánchez, Gabriela Lopez-Herrera, Yevgeniya Svyryd, Osvaldo M Mutchinick, Eric Gamazon, Jeffrey C Rathmell, Yuval Itan, Janet Markle, Patricia O'Farrill R

PPP2R2B hypermethylation causes acquired apoptosis deficiency in systemic autoimmune diseases

PPP2R2B高甲基化导致系统性自身免疫性疾病中获得性细胞凋亡缺陷

Madera-Salcedo, Iris K; Sánchez-Hernández, Beatriz E; Svyryd, Yevgeniya; Esquivel-Velázquez, Marcela; Rodríguez-Rodríguez, Noé; Trejo-Zambrano, María Isabel; García-González, H Benjamín; Hernández-Molina, Gabriela; Mutchinick, Osvaldo M; Alcocer-Varela, Jorge; Rosetti, Florencia; Crispín, José C

Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans

催化功能受损的TYK2变异体对墨西哥人患儿童期和成人期系统性红斑狼疮具有保护作用

Contreras-Cubas, Cecilia; García-Ortiz, Humberto; Velázquez-Cruz, Rafael; Barajas-Olmos, Francisco; Baca, Paulina; Martínez-Hernández, Angélica; Barbosa-Cobos, Rosa Elda; Ramírez-Bello, Julian; López-Hernández, Maria A; Svyryd, Yevgeniya; Mutchinick, Osvaldo M; Baca, Vicente; Orozco, Lorena