Zineb Ammous

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier

Lauren E. Bowser, Millie Young, Olivia Wenger et al. · Molecular Genetics and Metabolism · 2019 · 55 citations

Life Sciences, Biochemistry, Genetics +11

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Laura Grange, John J. Reynolds, Farid Ullah et al. · Nature Communications · 2022 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis

Varun Aggarwal, Nancy Dobrolet, Steven B. Fishberger et al. · Annals of Pediatric Cardiology · 2015 · 29 citations · Full text

Life Sciences, Cardiology, Genetics +14

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Marie Morimoto, Helen Waller‐Evans, Zineb Ammous et al. · The American Journal of Human Genetics · 2018 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome

Kevin A. Winters, Zhijie Jiang, Weihong Xu et al. · American Journal of Medical Genetics Part A · 2012 · 26 citations

Life Sciences, Genetics, Molecular Genetics +14