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

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

MN1 C端截断综合征是一种新型的神经发育和颅面疾病,伴有部分菱脑融合。

Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon; Barone Pritchard, Amanda; Yang, Sandra; Bend, Eric G; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J V; Henderson, Lindsay B; McGowan, Ruth; Wentzensen, Ingrid M; Pei, Steven; Zahir, Farah R; Yu, Mullin; Gibson, William T; Seman, Ann; Steeves, Marcie; Murrell, Jill R; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M; Amlie-Wolf, Louise; Kaindl, Angela M; Wilson, William G; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E L M; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M; Bamshad, Michael J; Nickerson, Deborah A; Reid, Russell R; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zöe; Bienvenu, Thierry; Tan, Tiong Y; Orenstein, Naama; Dobyns, William B; Shieh, Joseph T; Choi, Murim; Waggoner, Darrel; Gripp, Karen W; Parker, Michael J; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valérie; Viskochil, David; Hoffman, Trevor L; Amiel, Jeanne; Chung, Brian H Y; Gordon, Christopher T

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

ACTG2基因中精氨酸的反复替换是内脏肌病疾病负担和严重程度的主要驱动因素。

Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D; Harr, Margaret H; Heck, Sandra; Hurst, Anna C E; Jhangiani, Shalini N; Isidor, Bertrand; Littlejohn, Rebecca O; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M; Nugent, Kimberly M; Petersen, Michael B; Rocha, Maria L; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O; Posey, Jennifer E; Lupski, James R; Beaudet, Arthur L; Wangler, Michael F

Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features

伴有锥体外系症状的进行性痴呆患者的慢性登革病毒性全脑炎

Johnson, Tory P; Larman, H Benjamin; Lee, Myoung-Hwa; Whitehead, Stephen S; Kowalak, Jeffrey; Toro, Camilo; Lau, C Christopher; Kim, Juyun; Johnson, Kory R; Reoma, Lauren B; Faustin, Arline; Pardo, Carlos A; Kottapalli, Sanjay; Howard, Jonathan; Monaco, Daniel; Weisfeld-Adams, James; Blackstone, Craig; Galetta, Steven; Snuderl, Matija; Gahl, William A; Kister, Ilya; Nath, Avindra

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6

MT-ATP6基因突变患儿的生化特征模拟多种羧化酶缺乏症

Larson, Austin A; Balasubramaniam, Shanti; Christodoulou, John; Burrage, Lindsay C; Marom, Ronit; Graham, Brett H; Diaz, George A; Glamuzina, Emma; Hauser, Natalie; Heese, Bryce; Horvath, Gabriella; Mattman, Andre; van Karnebeek, Clara; Lane Rutledge, S; Williamson, Amy; Estrella, Lissette; Van Hove, Johan K L; Weisfeld-Adams, James D

Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I

新生儿期起病的间质性肺病作为I型黏多糖贮积症的首发表现

Bush, Douglas; Sremba, Leighann; Lomax, Kate; Lipsett, Jill; Ketteridge, David; Bratkovic, Drago; Enchautegui-Colon, Yazmin; Weisfeld-Adams, James; Galambos, Csaba; Lummus, Seth; Wartchow, Eric; Weinman, Jason; Liptzin, Deborah R; Baker, Peter 2nd

Erratum: A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

更正:21q22.11染色体上新发现的2.78 Mb重复序列提示候选基因与21号染色体部分三体表型有关

Weisfeld-Adams, James D; Tkachuk, Amanda K; Maclean, Kenneth N; Meeks, Naomi L; Scott, Stuart A

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

钴胺素相关再甲基化障碍 cblC、cblD、cblE、cblF、cblG、cblJ 和 MTHFR 缺乏症的诊断和治疗指南

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

通过基因panel分析检测到新生和遗传性SCN8A癫痫突变

Butler, Kameryn M; da Silva, Cristina; Shafir, Yuval; Weisfeld-Adams, James D; Alexander, John J; Hegde, Madhuri; Escayg, Andrew

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability

脑腱黄瘤病伴婴儿痉挛和智力障碍

Larson, Austin; Weisfeld-Adams, James D; Benke, Tim A; Bonnen, Penelope E

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

21q22.11染色体上新出现的2.78 Mb重复序列提示候选基因与21号染色体部分三体表型有关

Weisfeld-Adams, James D; Tkachuk, Amanda K; Maclean, Kenneth N; Meeks, Naomi L; Scott, Stuart A