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Geralyn Creadon-Swindell

University of Colorado System

H指数:9

被引数:771

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Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect

MRPL44的致病变异由于线粒体翻译缺陷而导致婴儿心肌病

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-08-0110

OAAI

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT (vol 19, pg 104, 2017)

GENETICS IN MEDICINE

IF6.2

2018-09-011

OAAI

D-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-06-014

PREAI

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

GENETICS IN MEDICINE

IF6.2

2017-01-0161

OAAI

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

JOURNAL OF PEDIATRICS

IF3.5

2016-03-0150

OAAI

Biochemical and Molecular Predictors for Prognosis in Nonketotic Hyperglycinemia

ANNALS OF NEUROLOGY

IF7.7

2015-08-1065

OAAI

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

JOURNAL OF MEDICAL GENETICS

IF3.7

2015-03-1863

OAAI

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

IF11.7

2013-12-10183

OAAI

Baker, Peter R., II; Friederich, Marisa W.; Swanson, Michael A.; Shaikh, Tamim; Bhattacharya, Kaustuv; Scharer, Gunter H.; Aicher, Joseph; Creadon-Swindell, Geralyn; Geiger, Elizabeth; MacLean, Kenneth N.; Lee, Wang-Tso; Deshpande, Charu; Freckmann, Mary-Louise; Shih, Ling-Yu; Wasserstein, Melissa; Rasmussen, Malene B.; Lund, Allan M.; Procopis, Peter; Cameron, Jessie M.; Robinson, Brian H.; Brown, Garry K.; Brown, Ruth M.; Compton, Alison G.; Dieckmann, Carol L.; Collard, Renata; Coughlin, Curtis R., II; Spector, Elaine; Wempe, Michael F.; Van Hove, Johan L. K.