Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

F. Feillet · SciRah

Researcher profile · Semantic Scholar

F. Feillet

Share profile

F. Feillet — researcher profile on SciRah

h-index: 48
Works: 196
Citations: 8,224

Most-cited papers

The complete European guidelines on phenylketonuria: diagnosis and treatment
A. V. van Wegberg, A. Macdonald, K. Ahring, A. Bélanger-Quintana +15 more
2017Orphanet Journal of Rare Diseases732 citations Open access
Semantic Scholar
European guidelines for the diagnosis and management of patients with phenylketonuria
F. V. van Spronsen, A. V. van Wegberg, K. Ahring, A. Bélanger-Quintana +15 more
2017365 citations
Semantic Scholar
The Genetic Landscape and Epidemiology of Phenylketonuria.
Alicia Hillert, Y. Anikster, A. Bélanger-Quintana, A. Burlina +44 more
2020American Journal of Human Genetics328 citations Open access
Semantic Scholar
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
J. Thevenon, Y. Duffourd, A. Masurel‐Paulet, M. Lefebvre +11 more
2016Clinical Genetics239 citations
Semantic Scholar
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
B. Burton, M. Balwani, F. Feillet, I. Barić +27 more
2015New England Journal of Medicine224 citations Open access
Semantic Scholar
PKU dietary handbook to accompany PKU guidelines
A. Macdonald, A. V. van Wegberg, K. Ahring, S. Beblo +14 more
2020Orphanet Journal of Rare Diseases212 citations Open access
Semantic Scholar
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
J. Thevenon, M. Milh, F. Feillet, J. St‐Onge +26 more
2014American Journal of Human Genetics144 citations Open access
Semantic Scholar
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature
M. Schiff, C. Roda, M. Monin, A. Arion +42 more
2017Journal of Medical Genetics101 citations
Semantic Scholar
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
C. Coughlin, Laura A. Tseng, J. Abdenur, C. Ashmore +33 more
2020Journal of Inherited Metabolic Disease100 citations Open access
Semantic Scholar
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
J. Guéant, C. Chéry, A. Oussalah, J. Nadaf +27 more
2018Nature Communications86 citations Open access
Semantic Scholar
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
A. Muntau, Darius J. Adams, A. Bélanger-Quintana, T. Bushueva +14 more
2019Molecular Genetics and Metabolism67 citations Open access
Semantic Scholar
Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
A. Molin, A. Wiedemann, N. Demers, M. Kaufmann +13 more
2017Journal of Bone and Mineral Research67 citations Open access
Semantic Scholar
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
C. Staufner, B. Peters, M. Wagner, S. Alameer +47 more
2019Genetics in Medicine66 citations Open access
Semantic Scholar
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
N. Guffon, B. Héron, B. Chabrol, F. Feillet +2 more
2015Orphanet Journal of Rare Diseases64 citations Open access
Semantic Scholar
A noncoding RNA modulator potentiates phenylalanine metabolism in mice
Yajuan Li, Zhi Tan, Yaohua Zhang, Zhao Zhang +32 more
2021Science62 citations Open access
Semantic Scholar
Religious dietary rules and their potential nutritional and health consequences.
J. Chouraqui, D. Turck, A. Briend, D. Darmaun +11 more
2020International Journal of Epidemiology60 citations Open access
Semantic Scholar
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
T. Besnard, N. Sloboda, A. Goldenberg, S. Küry +35 more
2019Genetics in Medicine59 citations Open access
Semantic Scholar
Can untreated PKU patients escape from intellectual disability? A systematic review
D. van Vliet, A. V. van Wegberg, K. Ahring, M. Bik-Multanowski +31 more
2018Orphanet Journal of Rare Diseases59 citations Open access
Semantic Scholar
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
I. Ditters, H. Huidekoper, M. Kruijshaar, D. Rizopoulos +41 more
2021The Lancet Child & Adolescent Health58 citations Open access
Semantic Scholar
Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis
C. Rodrigues, A. Pinto, A. Faria, D. Teixeira +7 more
2021Nutrients53 citations Open access
Semantic Scholar
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Claire-Marine Bérat, Sebastian Montealegre, A. Wiedemann, Malou Le Corronc Nuzum +27 more
2020Journal of Inherited Metabolic Disease50 citations
Semantic Scholar
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
Marta K. Danecka, M. Woidy, J. Zschocke, F. Feillet +2 more
2015Journal of Medical Genetics50 citations
Semantic Scholar
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
É. Lebigot, A. Brassier, M. Zater, D. Imanci +4 more
2015Journal of Inherited Metabolic Disease49 citations
Semantic Scholar
Treatment of ARS deficiencies with specific amino acids
G. Kok, Laura A. Tseng, I. Schene, M.E. Dijsselhof +17 more
2021Genetics in Medicine48 citations Open access
Semantic Scholar
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature
P. Jaulent, S. Charrière, F. Feillet, C. Douillard +2 more
2019Journal of Neurology44 citations
Semantic Scholar
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]
R. Wintjens, D. Bozon, Khaldia Belabbas, F. Mbou +19 more
2016Journal of Lipid Research39 citations Open access
Semantic Scholar
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results
M. Giżewska, A. Macdonald, A. Bélanger-Quintana, A. Burlina +7 more
2015European Journal of Pediatrics38 citations Open access
Semantic Scholar
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
N. Calmels, G. Greff, C. Obringer, N. Kempf +25 more
2016Orphanet Journal of Rare Diseases37 citations Open access
Semantic Scholar
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome
N. Witting, P. Laforêt, N. Voermans, Natalie Roux-Buisson +11 more
2018Acta Neurologica Scandinavica35 citations Open access
Semantic Scholar
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
M. Husson, M. Schiff, A. Fouilhoux, A. Cano +9 more
2016Orphanet Journal of Rare Diseases35 citations Open access
Semantic Scholar
30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case
Do J. Cao, A. Wiedemann, T. Quinaux, S. Battaglia-Hsu +7 more
2016Molecular Genetics and Metabolism Reports33 citations Open access
Semantic Scholar
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
E. Passchier, Sven Kerst, Eelke Brouwers, E. M. Hamilton +20 more
2023Brain : a journal of neurology31 citations Open access
Semantic Scholar
SEBELIPASE ALFA IN CHILDREN AND ADULTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY: FINAL RESULTS OF THE ARISE STUDY.
B. Burton, F. Feillet, K. Furuya, S. Marulkar +1 more
2021Journal of Hepatology31 citations Open access
Semantic Scholar
SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders.
Rose Ghemrawi, C. Arnold, S. Battaglia-Hsu, Grégory Pourié +10 more
2019Metabolism: Clinical and Experimental29 citations Open access
Semantic Scholar
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
E. Jeannesson-Thivisol, F. Feillet, C. Chéry, P. Perrin +24 more
2015Orphanet Journal of Rare Diseases27 citations Open access
Semantic Scholar
"Baby-led weaning" - Progress in infant feeding or risky trend?
A. Bocquet, S. Brancato, D. Turck, M. Chalumeau +13 more
2022Archives de pédiatrie26 citations
Semantic Scholar
Psychiatric adult-onset of urea cycle disorders: A case-series
A. Bigot, P. Brunault, C. Lavigne, F. Feillet +7 more
2017Molecular Genetics and Metabolism Reports26 citations Open access
Semantic Scholar
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study
J-P Mergnac, A. Wiedemann, C. Chéry, J. Ravel +4 more
2021Human Genetics24 citations Open access
Semantic Scholar
Efficacy of low dose nitisinone in the management of alkaptonuria.
N. Sloboda, A. Wiedemann, M. Merten, Amerh Alqahtani +6 more
2019Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
Dietary practices in propionic acidemia: A European survey
A. Daly, A. Pinto, S. Evans, M. Almeida +72 more
2017Molecular Genetics and Metabolism Reports24 citations Open access
Semantic Scholar
Mineral and vitamin intake of infants and young children: the Nutri-Bébé 2013 survey
J. Chouraqui, G. Tavoularis, D. Turck, Constance Ferry +1 more
2019European Journal of Nutrition21 citations Open access
Semantic Scholar
Bone mineral density is within normal range in most adult phenylketonuria patients
C. Lubout, Francisco Arrieta Blanco, K. Bartosiewicz, F. Feillet +9 more
2020Journal of Inherited Metabolic Disease20 citations Open access
Semantic Scholar
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
Nandaki Keshavan, J. Abdenur, G. Anderson, Z. Assouline +20 more
2019Genetics in Medicine20 citations Open access
Semantic Scholar
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
E. Renard, C. Chéry, A. Oussalah, Thomas Josse +8 more
2019Human Genetics20 citations
Semantic Scholar
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
A. Wiedemann, A. Oussalah, Nathalie Lamireau, Maurane Théron +8 more
2022Cell Reports Medicine19 citations Open access
Semantic Scholar
Dietary practices in isovaleric acidemia: A European survey
A. Pinto, A. Daly, S. Evans, M. Almeida +71 more
2017Molecular Genetics and Metabolism Reports19 citations Open access
Semantic Scholar
Vegetarian diet in children and adolescents: A health benefit?
N. Peretti, D. Darmaun, J. Chouraqui, A. Bocquet +10 more
2020Archives de pédiatrie18 citations Open access
Semantic Scholar
Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects.
Ma'atem B. Fofou-Caillierez, R. Guéant-Rodriguez, J. Alberto, C. Chéry +6 more
2019American Journal of Clinical Nutrition18 citations Open access
Semantic Scholar
Neuropsychological Profile of Children with Early and Continuously Treated Phenylketonuria: Systematic Review and Future Approaches
M. Canton, D. Le Gall, F. Feillet, C. Bonnemains +1 more
2019Journal of the International Neuropsychological Society17 citations
Semantic Scholar
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases
D. Lehalle, R. Colombo, M. O'Grady, B. Héron +19 more
2019American Journal of Medical Genetics. Part A17 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

J. Guéant×10
Invite
J. Guéant — researcher profile on SciRah
A. Wiedemann×10
Invite
A. Wiedemann — researcher profile on SciRah
A. Bélanger-Quintana×8
Invite
A. Bélanger-Quintana — researcher profile on SciRah
A. Muntau×8
Invite
A. Muntau — researcher profile on SciRah

F. V. van Spronsen

×8

Invite

F. V. van Spronsen — researcher profile on SciRah

A. Macdonald×7

Invite

A. Macdonald — researcher profile on SciRah

M. Giżewska×7

Invite

M. Giżewska — researcher profile on SciRah

Invite

N. Blau — researcher profile on SciRah

Invite

F. Maillot — researcher profile on SciRah

Invite

K. Ahring — researcher profile on SciRah

Invite

V. Leuzzi — researcher profile on SciRah

Invite

F. Trefz — researcher profile on SciRah