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

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

Genome assembly of Megasphaera elsdenii CH4, a potential probiotic bacterium isolated from the rumen sample of Holstein dairy cow

从荷斯坦奶牛瘤胃样本中分离得到的潜在益生菌——埃氏巨球菌CH4的基因组组装

Mamphogoro, Tshifhiwa Paris; Coetzee, Christa; Bruwer, Marietjie

Negative Pressure Wound Therapy With Instillation and Closed Incision Negative Pressure Therapy Use in South Africa: Expert Panel Recommendations

南非负压伤口治疗(包括灌注式和闭合切口式负压治疗):专家组建议

Andrews, Ethel; Arko-Cobbah, Emmanuel; Bruwer, Fébé; Laher, Saadia; Miseer, Sanesh; Moeng, Maeyane S; Ngcakani, Anati; Scott, Devan; Vadia, Suléman; Trivedi, Sadhana

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中开展外显子组拷贝数变异的检测、分析和分类

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences

南非家长对神经发育障碍基因组研究结果反馈的看法:预期影响和偏好

Diedericks, Angelique; Bruwer, Zandré; Laing, Nakita; Eastman, Emma; De Vries, Jantina; Newton, Charles R; Abubakar, Amina; Robinson, Elise B; Donald, Kirsten A

Genetic counseling development and milestone in Oman

阿曼遗传咨询发展及里程碑

Al-Kharusi, Khalsa; Van Wyk, Chantel; Al Hinai, Mariya; Al-Fori, Amel; Bruwer, Zandre

Parental Perspectives Regarding the Return of Genomic Research Results in Neurodevelopmental Disorders in South Africa: Anticipated Impact and Preferences

南非家长对神经发育障碍基因组研究结果反馈的看法:预期影响和偏好

Diedericks, Angelique; Bruwer, Zandré; Laing, Nakita; Eastman, Emma; De Vries, Jantina De Vries; Donald, Kirsten A; Robinson, Elise B; Newton, Charles R; Abubakar, Amina

Mass Spectrometric Analysis of Cucurbitacins and Dihydrocucurbitacins from the Tuber of Citrullus naudinianus

利用质谱分析西瓜块茎中的葫芦素和二氢葫芦素

Benka, Moritz; Görlitz, Kristof; Schöttgen, Michael C; Lagies, Simon; Mohl, Daniel A; Kather, Michel; Du Preez-Bruwer, Iwanette; Mumbengegwi, Davis; Teufel, Robin; Kowarschik, Stefanie; Huber, Roman; Plattner, Dietmar A; Kammerer, Bernd

Applying whole exome sequencing in a consanguineous population with autism spectrum disorder

在患有自闭症谱系障碍的近亲结婚人群中应用全外显子组测序

Al-Mamari, Watfa; Idris, Ahmed B; Al-Thihli, Khalid; Abdulrahim, Reem; Jalees, Saquib; Al-Jabri, Muna; Gabr, Ahlam; Al Murshedi, Fathiya; Al Kindy, Adila; Al-Hadabi, Intisar; Bruwer, Zandrè; Islam, M Mazharul; Alsayegh, Abeer