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

Generation of the induced pluripotent stem cell line ISMMSi061-A from a patient with ataxia, intention tremor, and hypotonia syndrome, childhood-onset

从一名患有共济失调、意向性震颤和肌张力低下综合征(儿童期发病)的患者体内生成诱导多能干细胞系 ISMMSi061-A

Liu, Norman N; Hu, Ruiqi; Hubbard, Samuel J; Salemi, Sophia E; Baljinnyam, Erdene; Pradhan, Priya; Smith, Genevieve; Webb, Bryn D; Marro, Samuele G

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

SLC31A1相关发育性和癫痫性脑病的临床和分子特征:来自13个新病例的见解。

Juliá-Palacios Natalia, Muñoz-Pujol Gerard, Maroofian Reza, Bertoli-Avella Aida M, Gómez-Chiari Marta, Muchart-López Jordi, Paredes-Fuentes Abraham J, O'Callaghan Mar, Machado-Casas Irene S, Cristian Ingrid, Morrison Jennifer, Garcia-Cazorla Angels, Codina Anna, Miryounesi Mohammad, Zonic Emir, Bauer Peter, Cheema Huma, Anjum Muhammad Nadeem, Al-Sannaa Nouriya, Abd Elmaksoud Marwa, Ababneh Faroug, Alijanpour Sahar, Tonekaboni Seyed Hassan, Fayazi Afshin, Urbaniak Maria, Barba Uxía, Hoenicka Janet, Palau Francesc, Houlden Henry, Ortigoza-Escobar Juan Darío, Ribes Antonia, Santos-Ocaña Carlos, Tyler Millie, Gaffney Patrick, Carroll Christopher J, Tort Frederic, Wierenga Klaas J, Webb Bryn D, Artuch Rafael, Baide-Mairena Heidy, Urreizti Roser

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders

先天性面部无力障碍的多模态颅面表型分析

Almpani, Konstantinia; Devine, Katelin R; Liberton, Denise K; Mishra, Rashmi; Bassim, Carol; Van Ryzin, Carol; Facio, Flavia M; Webb, Bryn D; Barry, Brenda J; Engle, Elizabeth C; Wang Jabs, Ethylin; Collins, Francis S; Manoli, Irini; Lee, Janice S

Systematic phenotype and genotype characterization of Moebius syndrome

莫比乌斯综合征的系统性表型和基因型特征分析

Webb, Bryn D; Jurgens, Julie A; Narisu, Narisu; Zhang, Zhongyang; Barry, Brenda J; Van Ryzin, Carol; Bonnycastle, Lori L; Chan, Wai-Man; Yan, Tingfen; Di Gioia, Silvio Alessandro; Swift, Amy J; MacKinnon, Sarah E; Oystreck, Darren T; Rucker, Janet C; Frempong, Tamiesha; Whitman, Mary C; FitzGibbon, Edmond J; Lee, Janice S; Hao, Ke; Andrews, Caroline; Erazo, Monica; Facio, Flavia M; Shaaban, Sherin; Naidich, Thomas P; Chines, Peter S; Lehky, Tanya J; Toro, Camilo; Gropman, Andrea L; Butman, John A; Zalewski, Christopher K; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Paul, Scott M; Brooks, Brian P; Pierpaoli, Carlo; Robson, Caroline D; Hunter, David G; Collins, Francis S; Jabs, Ethylin Wang; Engle, Elizabeth C; Manoli, Irini

An algorithm to identify patients aged 0-3 with rare genetic disorders

一种用于识别0-3岁患有罕见遗传疾病患者的算法

Webb, Bryn D; Lau, Lisa Y; Tsevdos, Despina; Shewcraft, Ryan A; Corrigan, David; Shi, Lisong; Lee, Seungwoo; Tyler, Jonathan; Li, Shilong; Wang, Zichen; Stolovitzky, Gustavo; Edelmann, Lisa; Chen, Rong; Schadt, Eric E; Li, Li

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

罕见先天性面部无力疾病患者的口腔健康相关生活质量

Liberton, Denise K; Almpani, Konstantinia; Mishra, Rashmi; Bassim, Carol; Van Ryzin, Carol; On Behalf Of The Moebius Syndrome Research Consortium; Webb, Bryn D; Jabs, Ethylin Wang; Engle, Elizabeth C; Collins, Francis S; Manoli, Irini; Lee, Janice S

Inability to move one's face dampens facial expression perception

面部活动受限会削弱对面部表情的感知。

Japee, Shruti; Jordan, Jessica; Licht, Judith; Lokey, Savannah; Chen, Gang; Snow, Joseph; Jabs, Ethylin Wang; Webb, Bryn D; Engle, Elizabeth C; Manoli, Irini; Baker, Chris; Ungerleider, Leslie G

Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly

错义NAA20变异损害NatB蛋白N端乙酰转移酶,导致常染色体隐性遗传性发育迟缓、智力障碍和小头畸形。

Morrison, Jennifer; Altuwaijri, Norah K; Brønstad, Kirsten; Aksnes, Henriette; Alsaif, Hessa S; Evans, Anthony; Hashem, Mais; Wheeler, Patricia G; Webb, Bryn D; Alkuraya, Fowzan S; Arnesen, Thomas

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis

KCNJ16基因双等位基因功能缺失变异可导致低钾性代谢性酸中毒

Webb, Bryn D; Hotchkiss, Hilary; Prasun, Pankaj; Gelb, Bruce D; Satlin, Lisa