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

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异会导致一种复杂的神经发育障碍

Planas-Serra, Laura; Rodríguez-Ruiz, Mar; Anderson, Eric Nathaniel; Rodríguez-Palmero, Agustí; Vélez-Santamaria, Valentina; Schlüter, Agatha; Verdura, Edgard; Gereñu, Gorka; Jiménez-Zúñiga, Andrés; Iñañez, Alejandro; Casas, Josefina; Bech, Joan Josep; De La Torre, Carolina; Martínez, Juan José; Ruiz, Montserrat; Fourcade, Stéphane; Iascone, Maria; Tenconi, Romano; Meier, Kolja; Diegmann, Susann; Lee, Reagan H C; Beland, Bakht; Mir, Asif; Darvish, Hossein; Chung, Wendy; Karimiani, Ehsan Ghayoor; Leal, Suzanne M; Schrauwen, Isabelle; Öhman, Susanna; Järvelä, Irma; Granvik, Johanna; Reinson, Karit; Kurvinen, Elvira; Õunap, Katrin; Schwan, Annemarie; Platzer, Konrad; Kalayci, Tuğba; Sharifi, Shahrashoub; Korenke, G Christoph; Houlden, Henry; Maroofian, Reza; López de Munaín, Adolfo; Casasnovas, Carlos; Pandey, Udai Bhan; Pujol, Aurora

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

ClinGen对听力损失相关基因的重新整理表明,随着时间的推移,基因-疾病有效性发生了显著变化。

Tshering, Kezang C; DiStefano, Marina T; Oza, Andrea M; Ajuyah, Pamela; Webb, Ryan; Edoh, Enyonam; Broeren, Ellie; Ratliff, Julie; Gitau, Vanessa; Paris, Kelley; Aburyyan, Amal; Alexander, John; Albano, Victoria; Bai, Donglin; Booth, Kevin T A; Buonfiglio, Paula I; Charfeddine, Cherine; Dalamón, Viviana; Castillo, Ignacio Del; Moreno-Pelayo, Miguel Angel; Duzkale, Hatice; Dorshorst, Ben; Faridi, Rabia; Kenna, Margaret; Lewis, Morag A; Luo, Minjie; Lu, Yu; Mkaouar, Rahma; Matsunaga, Tatsuo; Nara, Kiyomitsu; Pandya, Arti; Redfield, Shelby; Roux, Isabelle; Schimmenti, Lisa A; Schrauwen, Isabelle; Shaaban, Sherin; Shen, Jun; Vona, Barbara; Smith, Richard J; Rehm, Heidi L; Azaiez, Hela; Abou Tayoun, Ahmad N; Amr, Sami S

Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.

通过外显子组测序在加纳近亲多重家族中鉴定出双等位基因 MARVELD2 变异,该家族表现出非综合征性听力损失

Twumasi Aboagye Elvis, Adadey Samuel Mawuli, Alves de Souza Rios Leonardo, Esoh Kevin K, Wonkam-Tingang Edmond, Xhakaza Lettilia, De Kock Carmen, Schrauwen Isabelle, Amenga-Etego Lucas, Lang Dirk, Awandare Gordon A, Leal Suzanne M, Mowla Shaheen, Wonkam Ambroise

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

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