Faiza Fakhfakh

2.5k citations

128 papers · 1.2k indexed · h-index 18

Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders 27
Reproductive Medicine top 5%
Molecular Biology
- Mitochondrial Function and Pathology 39
- RNA modifications and cancer 19
- ATP Synthase and ATPases Research 16
- RNA and protein synthesis mechanisms 15
- RNA Research and Splicing 8
Genetics top 10%
- Genetics and Neurodevelopmental Disorders 22
- Genomics and Rare Diseases 10
Sensory Systems top 10%

Co-authors: Emna Mkaouar‐Rebai Leila Keskes Nozha Chakroun Fatma Ben Abdallah Chahnez Triki Afifa Sellami Jalel Gargouri Nassira Zribi
Cited by: Clinical Biochemistry Reproductive Medicine Molecular Biology
Journals: Biochemical and Biophysical Research Communications (22 papers)Molecular Biology Reports (9 papers)Gene (9 papers)
Partner nations: Tunisia France United Arab Emirates

In The Last Decade

Faiza Fakhfakh

122 papers receiving 1.2k citations

Peers

Countries citing papers authored by Faiza Fakhfakh

Since Specialization

Citations

This map shows the geographic impact of Faiza Fakhfakh's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Faiza Fakhfakh with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Faiza Fakhfakh more than expected).

Fields of papers citing papers by Faiza Fakhfakh

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Faiza Fakhfakh. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Faiza Fakhfakh. The network helps show where Faiza Fakhfakh may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Faiza Fakhfakh, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Faiza Fakhfakh Line = papers co-authored together Faiza Fakhfakh links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number Annals of Hematology ·Ph Martiat,Marie Christine Atende Wa Ngboloko,Eileen P. Lynskey,Lonneke Leijten,M. Kharrat,Stacey Mendan,Amina Alaoui,Hongrong Wu,Emna Mkaouar‐Rebai,武生松林,Abdelaziz Tlili,Faiza Fakhfakh	2025	1
2	Mitochondrial genes modulate the phenotypic expression of congenital scoliosis syndrome caused by mutations in the TBXT gene Gene ·Stacey Mendan,Leah Gregory,Eileen P. Lynskey,M. Kharrat,Henry Rosner,Amina Alaoui,Abdelaziz Tlili,Faiza Fakhfakh	2024	2
3	Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy Epilepsia Open ·Mariem Ben Saïd,M. L. Burstall,(unknown),Amal Souissi,G. Köstl,Faiza Fakhfakh,Saber Masmoudi,Ikhlas Ben Ayed,Chahnez Triki	2023	3
4	Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome Metabolic Brain Disease ·Lonneke Leijten,L. Sfaihi,Majida Charif,Fakher Frikha,Anna Þóra Árnadóttir,B. Harrat,Guy Lenaers,Faiza Fakhfakh	2023	1
5	Mutation in the β‐tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism International Journal of Developmental Neuroscience ·Xiongfei Zhang,杨芳青,G. R. Lewis,Chahnez Triki,Faiza Fakhfakh	2023	0
6	Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics ·Ifeanyichukwu M . Amilo G.I.,Andreas Zimmer,E. Bahloul,杨政,Slaheddine Marrakchi,H. Turki,Faiza Fakhfakh,Rahma Brihi,Judith Fischer	2022	3
7	Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation Molecular Biology Reports ·Emna Mkaouar‐Rebai,Ph Martiat,L. Sfaihi,Stacey Mendan,Eileen P. Lynskey,Lonneke Leijten,M. Hachicha,Faiza Fakhfakh	2021	1
8	The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes Molecular Genetics & Genomic Medicine ·محمدعلی نجفی,Qiupeng Feng,Lonneke Leijten,Ms. A. Iyswariya,Leila Keskes,M. Abid,Mouna Mnif,Faiza Fakhfakh	2020	6
9	First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy Biochemical and Biophysical Research Communications ·Stacey Mendan,محمدعلی نجفی,Eileen P. Lynskey,Neïla Belguith,Leila Keskes,Emna Mkaouar‐Rebai,Faiza Fakhfakh	2018	8
10	First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation Biochemical and Biophysical Research Communications ·H. Meyer-Rienecker,H. Meyer-Rienecker,Myung-Hun Lee,Myung-Hun Lee,阿部周策,Marion Schultes,Yewande. O. Okusanya,Neïla Belguith,Leila Keskes,N. Gouider‐Khouja,Faiza Fakhfakh	2018	2
11	Association study of apoptosis gene polymorphisms in mitochondrial diabetes: A potential role in the pathogenicity of MD Gene ·محمدعلی نجفی,Mieszko,Hanen Boukedi,Dyah Mayowati Wibowo Putri,Jianli Huang,Slim Tounsi,В.П. Мешалкин,Hassen Kamoun,Leila Keskes,M. Abid,Mouna Mnif,Faiza Fakhfakh	2017	4
12	Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population? Environmental Science and Pollution Research ·Myung-Hun Lee,Yewande. O. Okusanya,H. Meyer-Rienecker,Yin Yingchao,Andrés Carrasco Sternsdorff,Emna Mkaouar‐Rebai,Leila Keskes,Faiza Fakhfakh	2017	6
13	A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members Molecular Biology Reports ·Yewande. O. Okusanya,S Anibar,A. Masmoudi,Gina S. Hahn,H. Turki,Faiza Fakhfakh,Norma DiFranco,Hassen Kamoun	2014	9
14	Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene Gene ·Abdelaziz Tlili,Les Walton,Muhammad Basit F,Abdellatif Gargouri,Faiza Fakhfakh	2013	13
15	Possible Association of a Novel Missense Mutation A6375G in the Mitochondrial Cytochrome C Oxidase I Gene with Asthenospermia in the Tunisian Population Genetic Testing and Molecular Biomarkers ·Aida Helena Binti Affandi,蘇珍文,Andrés Carrasco Sternsdorff,Emna Mkaouar‐Rebai,Afifa Sellami,Nozha Chakroun,Faiza Fakhfakh,Leila Keskes	2012	10
16	Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy Molecular Biology Reports ·Abdelaziz Tlili,Les Walton,Abdellatif Gargouri,Faiza Fakhfakh	2012	7
17	Novel double deletions in the MECP2 gene in Tunisian Rett patient Gene ·Marion Schultes,阿部周策,H. Meyer-Rienecker,Emna Mkaouar‐Rebai,Neïla Belguith,Gulicheva G. Elena,Faiza Fakhfakh	2012	3
18	An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population Molecular Biology Reports ·Yewande. O. Okusanya,Marion Schultes,Hassen Kamoun,Gina S. Hahn,Emna Mkaouar‐Rebai,Raja-Elie E. Abdulnour,Hammadi Ayadi,Faiza Fakhfakh	2012	6
19	Molecular Prenatal Diagnosis of Muscular Dystrophies in Tunisia and Postnatal Follow-Up Role Genetic Testing ·Hyun Sun Go,M. da C. E. Vianni,Maurice A. Schwartz,Sarah Theimer,刘巩,J McF Gaston,Saad Ali,Chahnez Triki,Faiza Fakhfakh	2008	5
20	Severe MDC1A Congenital Muscular Dystrophy Due to a Splicing Mutation in the LAMA2 Gene Resulting in Exon Skipping and Significant Decrease of mRNA Level Genetic Testing ·Hyun Sun Go,Maurice A. Schwartz,Chahnez Triki,Madeleine Morinière,Ahmed Rebaï,Pascale Richard,Pascale Guicheney,Faouzi Baklouti,Faiza Fakhfakh	2007	11

About Faiza Fakhfakh

Faiza Fakhfakh is a scholar working on Clinical Biochemistry, Chemical Health and Safety, Molecular Biology, Genetics and Immunology and Allergy, having authored 128 papers that have together received 1.2k indexed citations. Recurring topics across this work include Mitochondrial Function and Pathology (39 papers), Metabolism and Genetic Disorders (27 papers), Genetics and Neurodevelopmental Disorders (22 papers), RNA modifications and cancer (19 papers), ATP Synthase and ATPases Research (16 papers), RNA and protein synthesis mechanisms (15 papers), Genomics and Rare Diseases (10 papers) and RNA Research and Splicing (8 papers). The work is most often cited by research in Clinical Biochemistry (193 citations), Reproductive Medicine (215 citations), Molecular Biology (646 citations), Genetics (257 citations) and Sensory Systems (29 citations). Faiza Fakhfakh has collaborated with scholars based in Tunisia, France and United Arab Emirates. Frequent co-authors include Emna Mkaouar‐Rebai, Leila Keskes, Nozha Chakroun, Fatma Ben Abdallah, Chahnez Triki, Afifa Sellami, Jalel Gargouri, Nassira Zribi, Mouna Mnif and Abdelaziz Tlili. Their work appears in journals such as Biochemical and Biophysical Research Communications, Molecular Biology Reports, Gene, Journal of Child Neurology and Clinica Chimica Acta.

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