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Germaine Pierre

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
2018 · Birgit M. Repp, Elisa Mastantuono, et al. · Orphanet Journal of Rare Diseases · 93
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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
2017 · René G. Feichtinger, Monika Oláhová, et al. · The American Journal of Human Genetics · 78
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Clinical presentation and natural history of Barth Syndrome: An overview
2021 · Carolyn Taylor, Emily S. Rao, et al. · Journal of Inherited Metabolic Disease · 68
Clinical presentation and proteomic signature of patients with TANGO2 mutations
2019 · Nadja Mingirulli, Angela Pyle, et al. · Journal of Inherited Metabolic Disease · 68
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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
2018 · Yi Shiau Ng, Nichola Z. Lax, et al. · EBioMedicine · 68
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Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy
2008 · Germaine Pierre, Kenneth Setchell, et al. · Journal of Inherited Metabolic Disease · 57
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
2018 · Zhiwen Xu, Wing-Sze Lo, et al. · The American Journal of Human Genetics · 53
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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
2021 · Karen W. Gripp, Sarah F. Smithson, et al. · European Journal of Human Genetics · 44
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Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK
2020 · Alex Pinto, Catherine Ashmore, et al. · Nutrients · 30
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Bone Marrow Transplantation in Glycogen Storage Disease Type 1b
2008 · Germaine Pierre, Geothy Chakupurakal, et al. · The Journal of Pediatrics · 30
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
2013 · Mónica Ramos, Sebastián Menao, et al. · European Journal of Medical Genetics · 29
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Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion
2020 · Ana Cotta, Charlotte L. Alston, et al. · JIMD Reports · 15
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Successful treatment of pyridoxine‐unresponsive homocystinuria with betaine in pregnancy
2006 · Germaine Pierre, Paul Gissen, et al. · Journal of Inherited Metabolic Disease · 15
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
2024 · Micol Falabella, Chiara Pizzamiglio, et al. · Brain · 14
Liver transplantation for neonatal‐onset citrullinemia
2018 · Roshni Vara, Anil Dhawan, et al. · Pediatric Transplantation · 14
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
2019 · Shpresa Pula, Kathryn Urankar, et al. · Neuromuscular Disorders · 10
Metabolic disorders presenting as liver disease
2017 · Laura Guilder, Shpresa Pula, et al. · Paediatrics and Child Health · 9
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
2023 · Berna Seker Yilmaz, Julien Baruteau, et al. · Molecular Genetics and Metabolism Reports · 8
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK
2024 · Rachel S Carling, Katy Hedgethorne, et al. · International Journal of Neonatal Screening · 5
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Metabolic disorders presenting as liver disease
2013 · Germaine Pierre, Efstathia Chronopoulou · Paediatrics and Child Health · 4
Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency
2023 · Oliver P. Hanington, Catherine Armstrong, et al. · Annals of Noninvasive Electrocardiology · 3
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Think hyperammonaemia: the importance of early clinical management in urea cycle disorders
2023 · Katie Raven, Chloe Poole, et al. · Paediatrics and Child Health · 2
P37 A single paediatric centre experience of l-carnitine supplementation in medium-chain acyl-coa dehydrogenase deficiency (mcadd)
2018 · William Batten, Efstathia Chronopoulou, et al. · Archives of Disease in Childhood · 2
Severe Congenital Myopathy and Neuropathy with Congenital Cataracts due to GFER Variant: A Neuropathological Study
2022 · Silvia Beatriz Sanchez-Marco, Germaine Pierre, et al. · Journal of Pediatric Neurology · 1
Combined therapeutic approach to protein losing enteropathy complicating type 3 Gaucher disease using eliglustat
2017 · Alexander Broomfield, Jean Mercer, et al. · Molecular Genetics and Metabolism · 1
Works count: 40
Citation count: 721
H-index: 14
I10-index: 16
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