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

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

全外显子组测序揭示了马里听力障碍的已知基因和候选基因

Yalcouyé Abdoulaye, Schrauwen Isabelle, Traoré Oumou, Bamba Salia, Aboagye Elvis Twumasi, Acharya Anushree, Bharadwaj Thashi, Latanich Rachel, Esoh Kevin, Fortes-Lima Cesar A, de Kock Carmen, Jonas Mario, Maiga Alassane Dit Baneye, Cissé Cheick A K, Sangaré Moussa A, Guinto Cheick O, Landouré Guida, Leal Suzanne M, Wonkam Ambroise

Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly

新型 KIAA0825 变异体是非综合征性轴后多指畸形的致病因素

Abdullah; Bharadwaj, Thashi; Javed, Saffia; Khan, Hammal; Acharya, Anushree; Ji, Weizhen; Umm-E-Kalsoom; Ali, Hamid; Schrauwen, Isabelle; Ahmad, Wasim; Lakhani, Saquib A; Leal, Suzanne M

The Diverse Genetic Landscape of Hearing Impairment in South African Families

南非家庭听力障碍的多样化遗传图谱

Bharadwaj, Thashi; Acharya, Anushree; Manyisa, Noluthando Rearabetswe; Aboagye, Elvis Twumasi; Peigou Wonkam, Ramses; Xhakaza, Lettilia; Popel, Kalinka; de Kock, Carmen; Schrauwen, Isabelle; Wonkam, Ambroise; Leal, Suzanne M

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

致病性 COL7A1 变异凸显营养不良性大疱性表皮松解症的半显性遗传

Sattar, Saira; Bharadwaj, Thashi; Kalsoom, Umm-E-; Acharya, Anushree; Khan, Saadullah; Leal, Suzanne M; Schrauwen, Isabelle

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort

双侧侧裂周围多小脑回畸形的异质性遗传模式:来自芬兰家族队列的启示

Järvelä, Irma; Paetau, Ritva; Rajendran, Yasmin; Acharya, Anushree; Bharadwaj, Thashi; Leal, Suzanne M; Lehesjoki, Anna-Elina; Palomäki, Maarit; Schrauwen, Isabelle

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

光学基因组图谱揭示神经发育障碍中隐藏的结构变异

Schrauwen, Isabelle; Rajendran, Yasmin; Acharya, Anushree; Öhman, Susanna; Arvio, Maria; Paetau, Ritva; Siren, Auli; Avela, Kristiina; Granvik, Johanna; Leal, Suzanne M; Määttä, Tuomo; Kokkonen, Hannaleena; Järvelä, Irma

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

THBS1 是一种新的常染色体隐性非综合征型听力障碍基因

Bharadwaj, Thashi; Acharya, Anushree; Khan, Fati Ullah; Khan, Saadullah; Ullah, Irfan; Schrauwen, Isabelle; Ahmad, Wasim; Leal, Suzanne M

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

一名患有严重残疾和双侧侧裂周围多小脑回畸形的女孩体内发现CYFIP2基因的新变异

Salokivi, Tommi; Parkkola, Riitta; Rajendran, Yasmin; Bharadwaj, Thashi; Acharya, Anushree; Leal, Suzanne M; Järvelä, Irma; Arvio, Maria; Schrauwen, Isabelle

A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome

AGPAT3基因功能缺失变异是智力障碍和视网膜色素变性(IDRP)综合征的病因。

Malik, Madiha Amin; Saqib, Muhammad Arif Nadeem; Mientjes, Edwin; Acharya, Anushree; Alam, Muhammad Rizwan; Wallaard, Ilse; Schrauwen, Isabelle; Bamshad, Michael J; Santos-Cortez, Regie Lyn P; Elgersma, Ype; Leal, Suzanne M; Ansar, Muhammad

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