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Prashant Sharma

7PUBLICATIONS
25CO-AUTHORS
Respiratory diseasesCardiology (incl. cardiovascular diseases)Genetic immunologyCell development, proliferation and deathDevelopmental genetics (incl. sex determination)
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Journal

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 <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon

|Mar 04, 2023
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace

|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 <i>CUL3</i> Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity.

Harish E Chatrathi, Jason C Collins, Lynne A Wolfe

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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

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

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