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

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia

异戊酸辅酶A脱氢酶（IVD）基因的复合杂合变异：c.848A>G；p.Glu283Gly 和 c.890C>T；p.Ala297Val，可导致伴有高氨血症的严重异戊酸血症。

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2022.100859
Tsai, Anne Chun-Hui; Lin, Hsin-Ti; Chou, Maxwell; Bolen, Jessica; Zimmerman, Chelsea; DeMarzo, Danielle; Enchautegui-Colon, Yazmin
发表日期：2022
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Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned

新的复合杂合变异：c.4193_4206delinsG (p.Leu1398Argfs*25) 和 c.793C > A (p.Pro265Thr)，位于 CPS1 基因 (NM_001875.4) 中，导致迟发性氨甲酰磷酸合成酶 1 缺乏症——经验教训

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2022.100942
Lin, Hsin-Ti; Enchautegui-Colon, Yazmin; Huang, Yu-Ren; Zimmerman, Chelsea; DeMarzo, Danielle; Tsai, Anne Chun-Hui
发表日期：2022
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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。

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23960
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
发表日期：2020
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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

期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2018_101
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
特发性肺纤维化
发表日期：2019
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