Sarah H Elsea

21PUBLICATIONS
56CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Medical biochemistry - lipidsMetabolic medicineEpidemiological modellingDevelopmental genetics (incl. sex determination)
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Publications (21)

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

|Feb 02, 2026
Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.

Ruth B De-Paula, Jonggeol Kim, Herve Rhinn

|Jan 09, 2025
Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Nishitha R Pillai, Ning Liu, Xiyuan Li

|Aug 30, 2023
Broadcasters, receivers, functional groups of metabolites and the link to heart failure progression using polygenic factors.

Azam Yazdani, Raul Mendez-Giraldez, Akram Yazdani

|Aug 18, 2022
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari

|Apr 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

Daniel G Calame, Isabella Herman, Reza Maroofian

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Frequent Collaborators

3 joint publications

Andrew K Sobering

2 joint publications

Dong Li

2 joint publications

Xiqi Li

2 joint publications

Fernando Scaglia