Sumita Danda

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Brian T. Wilson, Zornitza Stark, Ruth E. Sutton et al. · Genetics in Medicine · 2015 · 172 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia et al. · JAMA · 2015 · 156 citations

Medicine, Hematology, Pharmacotherapy +11

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Anas M. Alazami, Amr Al‐Saif, Abdulaziz Alsemari et al. · The American Journal of Human Genetics · 2008 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Aimée L Fenwick, Maciej Kliszczak, Fay Cooper et al. · The American Journal of Human Genetics · 2016 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with <scp>G</scp>aucher disease type 1: The phase 3 ENGAGE trial

Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia et al. · American Journal of Hematology · 2017 · 99 citations · Full text

Medicine, Clinical Pharmacokinetics, Hematology +13