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

Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis

孟德尔遗传的非综合征性和综合征性听力损失基因与老年性耳聋有关。

Cornejo-Sanchez, Diana M; Bharadwaj, Thashi; Dong, Rui; Wang, Gao T; Schrauwen, Isabelle; DeWan, Andrew T; Leal, Suzanne M

Rare-variant association analysis reveals known and new age-related hearing loss genes

罕见变异关联分析揭示了已知和新的与年龄相关的听力损失基因

Cornejo-Sanchez, Diana M; Li, Guangyou; Fabiha, Tabassum; Wang, Ran; Acharya, Anushree; Everard, Jenna L; Kadlubowska, Magda K; Huang, Yin; Schrauwen, Isabelle; Wang, Gao T; DeWan, Andrew T; Leal, Suzanne M

Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population

在英国生物样本库人群中,JAZF1基因变异与哮喘、2型糖尿病和身高相关。

DeWan, Andrew T; Cahill, Megan E; Cornejo-Sanchez, Diana M; Li, Yining; Dong, Zihan; Fabiha, Tabassum; Sun, Hao; Wang, Gao; Leal, Suzanne M

The genetic contribution of the X chromosome in age-related hearing loss

X染色体在年龄相关性听力损失中的遗传作用

Naderi, Elnaz; Cornejo-Sanchez, Diana M; Li, Guangyou; Schrauwen, Isabelle; Wang, Gao T; Dewan, Andrew T; Leal, Suzanne M

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

对加纳家族进行外显子组测序,揭示了已知的和候选的听力障碍基因

Wonkam, Ambroise; Adadey, Samuel Mawuli; Schrauwen, Isabelle; Aboagye, Elvis Twumasi; Wonkam-Tingang, Edmond; Esoh, Kevin; Popel, Kalinka; Manyisa, Noluthando; Jonas, Mario; deKock, Carmen; Nembaware, Victoria; Cornejo Sanchez, Diana M; Bharadwaj, Thashi; Nasir, Abdul; Everard, Jenna L; Kadlubowska, Magda K; Nouel-Saied, Liz M; Acharya, Anushree; Quaye, Osbourne; Amedofu, Geoffrey K; Awandare, Gordon A; Leal, Suzanne M

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families

SCN1A 变异是哥伦比亚两大家族多代遗传性癫痫伴热性惊厥的根本原因

Cornejo-Sanchez, Diana M; Acharya, Anushree; Bharadwaj, Thashi; Marin-Gomez, Lizeth; Pereira-Gomez, Pilar; Nouel-Saied, Liz M; University Of Washington Center For Mendelian Genomics; Nickerson, Deborah A; Bamshad, Michael J; Mefford, Heather C; Schrauwen, Isabelle; Carrizosa-Moog, Jaime; Cornejo-Ochoa, William; Pineda-Trujillo, Nicolas; Leal, Suzanne M

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

芬兰创始人群体中智力障碍(ID)疾病的外显子组测序结果显示,这些疾病主要由新生突变引起。

Järvelä, Irma; Määttä, Tuomo; Acharya, Anushree; Leppälä, Juha; Jhangiani, Shalini N; Arvio, Maria; Siren, Auli; Kankuri-Tammilehto, Minna; Kokkonen, Hannaleena; Palomäki, Maarit; Varilo, Teppo; Fang, Mary; Hadley, Trevor D; Jolly, Angad; Linnankivi, Tarja; Paetau, Ritva; Saarela, Anni; Kälviäinen, Reetta; Olme, Jan; Nouel-Saied, Liz M; Cornejo-Sanchez, Diana M; Llaci, Lorida; Lupski, James R; Posey, Jennifer E; Leal, Suzanne M; Schrauwen, Isabelle

Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies

长读长全基因组测序用于肌营养不良症的基因诊断

Xie, Zhiying; Sun, Chengyue; Zhang, Siwen; Liu, Yilin; Yu, Meng; Zheng, Yiming; Meng, Lingchao; Acharya, Anushree; Cornejo-Sanchez, Diana M; Wang, Gao; Zhang, Wei; Schrauwen, Isabelle; Leal, Suzanne M; Wang, Zhaoxia; Yuan, Yun

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

匈牙利罗姆人听力障碍基因位点异质性及PLS1作为新的常染色体显性基因的鉴定

Schrauwen, Isabelle; Melegh, Béla I; Chakchouk, Imen; Acharya, Anushree; Nasir, Abdul; Poston, Alexis; Cornejo-Sanchez, Diana M; Szabo, Zsolt; Karosi, Tamás; Bene, Judit; Melegh, Béla; Leal, Suzanne M