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

Genetic and genomic insights into male reproductive tract development

遗传学和基因组学对男性生殖道发育的见解

Held, Madison; Castillo-Madeen, Helen; Vigh-Conrad, Katinka A; Aston, Kenneth I; Conrad, Donald F

PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

PSAP-基因组区域:一种利用群体数据对全基因组测序中的编码和非编码变异进行优先级排序以用于罕见病诊断的方法

Ogloblinsky, Marie-Sophie C; Bocher, Ozvan; Aloui, Chaker; Leutenegger, Anne-Louise; Ozisik, Ozan; Baudot, Anaïs; Tournier-Lasserve, Elisabeth; Castillo-Madeen, Helen; Lewinsohn, Daniel; Conrad, Donald F; Génin, Emmanuelle; Marenne, Gaëlle

Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP

对巴基斯坦男性不育家族进行基因组测序,发现SPAG6、CCDC9、TKTL1、TUBA3C和M1AP基因存在有害基因型。

Khan, Muhammad Riaz; Akbari, Arvand; Nicholas, Thomas J; Castillo-Madeen, Helen; Ajmal, Muhammad; Haq, Taqweem Ul; Laan, Maris; Quinlan, Aaron R; Ahuja, Jasvinder S; Shah, Aftab Ali; Conrad, Donald F

Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility

DMRT1 DNA结合亲和力降低(由杂合DM结构域突变引起)是男性不育的原因之一。

Marić, Tihana; Castillo-Madeen, Helen; Klarić, Monika Logara; Barišić, Antun; Trgovec-Greif, Lovro; Murphy, Mark W; Juchnewitsch, Anna-Grete; Lillepea, Kristiina; Dutta, Avirup; Žunić, Lucija; Stendahl, Alexandra M; Punab, Margus; Pomm, Kristjan; Mendoza, Daniel M; Lopes, Alexandra M; Šorgić, Ana Merkler; Vugrek, Oliver; Gonçalves, Joao; Almstrup, Kristian; Aston, Kenneth I; Belužić, Robert; Ježek, Davor; Bertoša, Branimir; Laan, Maris; Bojanac, Ana Katušić; Conrad, Donald F; Barbalić, Maja

Identification of missense DMC1 variants in males with non-obstructive azoospermia

在非梗阻性无精子症男性中鉴定出DMC1错义变异

Ullah, Noor; Pombar, Christopher; Hvasta-Gloria, Rachel; Berman, Andrea J; Malizio, Michelle; Khan, Muhammad Jaseem; Nazli, Rubina; Fatima, Sadia; Riera-Escamilla, Antoni; Castillo-Madeen, Helen; Malcher, Agnieszka; Olszewska, Marta; Xavier, Miguel J; Lillepea, Kristiina; Dutta, Avirup; Castro, Carlos A; Valkna, Anu; Inno, Rain; Orwig, Kyle E; Conrad, Donald F; Kurpisz, Maciej; Veltman, Joris A; Laan, Maris; Yatsenko, Alexander N

Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual

Easy-PSAP:一种用于对单个个体序列数据中的致病变异进行优先级排序的集成工作流程

Ogloblinsky, Marie-Sophie C; Gros-La-Faige, Marc B; Lewinsohn, Daniel P; Nguyen, Mathilde; Velo-Suarez, Lourdes; Herzig, Anthony; Ludwig, Thomas E; Castillo-Madeen, Helen; Conrad, Donald F; Génin, Emmanuelle; Marenne, Gaëlle

SAT-004 GnIH Interactions with GnRH-I and -II in Mammalian Brain: Musk Shrews as a Model for Human Reproduction

SAT-004 GnIH 与 GnRH-I 和 -II 在哺乳动物脑中的相互作用:以麝鼩为人类生殖模型

O'Bryan, Moira K; Saritas, Gülizar; Nguyen, Joseph; Winge, Sofia B; O'Connor, Anne E; Castillo-Madeen, Helen; Conrad, Donald F; Graffeo, Maddison; Nosrati, Reza; Dunleavy, Jessica E M; Almstrup, Kristian; Houston, Brendan J; Campbell, Mark; Plummer, Lacey; Koli, Swanand; Balasubramanian, Ravikumar; Seminara, Stephanie Beth; Bentley, George E; Watanabe, Ayumi; Ishii, Hikari; Sakata, Ichiro; Aizawa, Sayaka

Undiagnosed RASopathies in infertile men

不育男性中未确诊的RAS病

Juchnewitsch, Anna-Grete; Pomm, Kristjan; Dutta, Avirup; Tamp, Erik; Valkna, Anu; Lillepea, Kristiina; Mahyari, Eisa; Tjagur, Stanislav; Belova, Galina; Kübarsepp, Viljo; Castillo-Madeen, Helen; Riera-Escamilla, Antoni; Põlluaas, Lisanna; Nagirnaja, Liina; Poolamets, Olev; Vihljajev, Vladimir; Sütt, Mailis; Versbraegen, Nassim; Papadimitriou, Sofia; McLachlan, Robert I; Jarvi, Keith A; Schlegel, Peter N; Tennisberg, Sven; Korrovits, Paul; Vigh-Conrad, Katinka; O'Bryan, Moira K; Aston, Kenneth I; Lenaerts, Tom; Conrad, Donald F; Kasak, Laura; Punab, Margus; Laan, Maris

Toward clinical exomes in diagnostics and management of male infertility

迈向临床外显子组在男性不育症诊断和治疗中的应用

Lillepea, Kristiina; Juchnewitsch, Anna-Grete; Kasak, Laura; Valkna, Anu; Dutta, Avirup; Pomm, Kristjan; Poolamets, Olev; Nagirnaja, Liina; Tamp, Erik; Mahyari, Eisa; Vihljajev, Vladimir; Tjagur, Stanislav; Papadimitriou, Sofia; Riera-Escamilla, Antoni; Versbraegen, Nassim; Farnetani, Ginevra; Castillo-Madeen, Helen; Sütt, Mailis; Kübarsepp, Viljo; Tennisberg, Sven; Korrovits, Paul; Krausz, Csilla; Aston, Kenneth I; Lenaerts, Tom; Conrad, Donald F; Punab, Margus; Laan, Maris