Prashant Sharma
7PUBLICATIONS
25CO-AUTHORS
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Publications (7)
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|Oct 25, 2024
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.Prashant Sharma, Jason R McFadden, F Graeme Frost
|Oct 16, 2023
Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension.Prashant Sharma, Harish E Chatrathi
|Oct 03, 2023
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon
|Jan 27, 2023
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace
|Dec 08, 2021
Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity.Harish E Chatrathi, Jason C Collins, Lynne A Wolfe
|May 25, 2019
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.Prashant Sharma, Marie Reichert, Yan Lu
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Frequent Collaborators
4 joint publications
William A Gahl
3 joint publications
Jenny Serra-Vinardell
2 joint publications
Michael E Ward
2 joint publications
Joseph A Brzostowski
2 joint publications
Raffaella De Pace
2 joint publications
Antony Cougnoux
1 joint publications
Yan Lu
1 joint publications
Thomas C Markello
1 joint publications
May Christine V Malicdan
1 joint publications
Brie K Fuqua
