Concepedia

Author

Germaine Pierre

Bristol Royal Hospital for Children

Also Known As

Germaine Pierre

34

Publications

671

Citations

13

H-Index

26

Concepts

All Affiliations

Bristol Royal Hospital for ChildrenWellcome Centre for Mitochondrial ResearchNewcastle UniversityUniversity Hospitals Bristol NHS Foundation TrustUniversity College London
GP

About

Germaine Pierre is an author at Bristol Royal Hospital for Children specializing in medicine, pathology, and transplantation.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

4

4

86

2

Health Sciences

1

1

14

3

Natural Sciences

1

1

28

4

Biochemistry

1

1

28

5

Hepatology

1

1

14

Germaine Pierre

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14

Publications

563

Citations

12

H-Index

YearCitations

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

René G. Feichtinger, Monika Oláhová, Yoshihito Kishita,

The American Journal of Human Genetics

2017

85

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit Repp, Elisa Mastantuono, Charlotte L. Alston,

Orphanet Journal of Rare Diseases

2018

79

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Yi Shiau Ng, Nichola Z. Lax, Paul Maddison,

EBioMedicine

2018

65

Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy

Germaine Pierre, Kenneth D.R. Setchell, Jacqueline Blyth,

Journal of Inherited Metabolic Disease

2008

55

Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations

Nadja Mingirulli, Angela Pyle, Denisa Hathazi,

Journal of Inherited Metabolic Disease

2019

55

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Zhiwen Xu, Wing‐Sze Lo, David B. Beck,

The American Journal of Human Genetics

2018

48

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

Karen W. Gripp, Sarah Smithson, Ingrid Scurr,

European Journal of Human Genetics

2021

44

Bone Marrow Transplantation in Glycogen Storage Disease Type 1b

Germaine Pierre, Geothy Chakupurakal, Patrick McKiernan,

The Journal of Pediatrics

2008

33

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

Mónica Ramos, Sebastián Menao, María Arnedo,

European Journal of Medical Genetics

2013

28

Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK

Alex Pinto, Catherine Ashmore, Spyros Batzios,

Nutrients

2020

23

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