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プロフィール詳細
プロジェクトを作成
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Dr. Hela B.に依頼
Tunisia

PhD biologist and genetic analyst / genetic variant interpretation ( NGS, CGH ARRAY, CYTOGENETIC. MOLECULAR GENETICS)

プロフィール概要
専門分野
サービス
Writing Technical Writing
職務経験

Genetic analyst

Centogene (Germany)

5月 2025 - 9月 2025

Post doc researcher

cytogenetic Laboratory of sousse

6月 2016 - 6月 2018

学歴

PhD in biology and biotechnology

ISBM University of Monastir

9月 2010 - 5月 2016

PhD (Biology and biotechnology )

University of Monastir

9月 2010 - 5月 2016

認定資格

  • PhD in biology and biotechnology

    University of Monastir- Tunisia

    5月 2016 - 現在

出版物
JOURNAL ARTICLE
Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis @article{Khouloud_2023, title={Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis}, volume={15}, ISSN={1308-5735}, url={http://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-3-15}, DOI={10.4274/jcrpe.galenos.2022.2022-3-15}, number={1}, journal={Journal of Clinical Research in Pediatric Endocrinology}, publisher={Galenos Yayinevi}, author={Khouloud, Rjiba and Slimani, Wafa and Gaddas, Meriem and hassine, Ikbel Hadj and Jelloul, Afef and Khelifa, Hela Ben and Amri, Fethi El and Zaouali, Monia and Mcelreavey, Kenneth and Saad, Ali and Mougou-Zerelli, Soumaya}, year={2023}, month=feb, pages={25–34} } . Journal of Clinical Research in Pediatric Endocrinology.
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development @article{Rjiba_2023, title={Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development}, volume={21}, ISSN={1477-7827}, url={http://dx.doi.org/10.1186/s12958-022-01045-7}, DOI={10.1186/s12958-022-01045-7}, number={1}, journal={Reproductive Biology and Endocrinology}, publisher={Springer Science and Business Media LLC}, author={Rjiba, Khouloud and Mougou-Zerelli, Soumaya and Hamida, Imen hadj and Saad, Ghada and Khadija, Bochra and Jelloul, Afef and Slimani, Wafa and Hasni, Yosra and Dimassi, Sarra and khelifa, Hela Ben and Sallem, Amira and Kammoun, Molka and Abdallah, Hamza Hadj and Gribaa, Moez and Bignon-Topalovic, Joelle and Chelly, Sami and Khairi, Hédi and Bibi, Mohamed and Kacem, Maha and Saad, Ali and Bashamboo, Anu and McElreavey, Kenneth}, year={2023}, month=jan } . Reproductive Biology and Endocrinology.
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization @article{Slimani_2019, title={Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization}, volume={12}, ISSN={1755-8166}, url={http://dx.doi.org/10.1186/s13039-019-0414-8}, DOI={10.1186/s13039-019-0414-8}, number={1}, journal={Molecular Cytogenetics}, publisher={Springer Science and Business Media LLC}, author={Slimani, Wafa and Ben Khelifa, Hela and Dimassi, Sarra and Chioukh, Fatma-Zohra and Jelloul, Afef and Kammoun, Molka and Hannachi, Hanene and Bouslah, Sarra and Jammali, Nesrine and Sanlaville, Damien and Saad, Ali and Mougou-Zerelli, Soumaya}, year={2019}, month=feb } . Molecular Cytogenetics.
Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation @article{Soyah_2016, title={Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation}, volume={06}, ISSN={2146-460X}, url={http://dx.doi.org/10.1055/s-0036-1588027}, DOI={10.1055/s-0036-1588027}, number={02}, journal={Journal of Pediatric Genetics}, publisher={Mathematical Modelling and Numerical Simulation with Applications}, author={Soyah, Najla and Labalme, Audrey and Guilbert, Helene and Sanlaville, Damien and Saad, Ali and Mougou-Zerelli, Soumaya and Ben Khelifa, Hela}, year={2016}, month=sep, pages={084–091} } . Journal of Pediatric Genetics.
Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits @article{Kammoun_2015, title={Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits}, volume={04}, ISSN={2146-460X}, url={http://dx.doi.org/10.1055/s-0035-1565269}, DOI={10.1055/s-0035-1565269}, number={04}, journal={Journal of Pediatric Genetics}, publisher={Necmettin Erbakan University Press}, author={Kammoun, Molka and Hannachi, Hanene and Soyah, Najla and Hammami, Saber and Elghezal, Hatem and Sanlaville, Damien and Saad, Ali and Mougou-Zerelli, Soumaya and Khelifa, Hela}, year={2015}, month=oct, pages={187–193} } . Journal of Pediatric Genetics.
Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation @article{Ben_Khelifa_2013, title={Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation}, volume={527}, ISSN={0378-1119}, url={http://dx.doi.org/10.1016/j.gene.2013.06.018}, DOI={10.1016/j.gene.2013.06.018}, number={2}, journal={Gene}, publisher={Elsevier BV}, author={Ben Khelifa, Hela and Soyah, Najla and Ben-Abdallah-Bouhjar, Inesse and Gritly, Ryma and Sanlaville, Damien and Elghezal, Hatem and Saad, Ali and Mougou-Zerelli, Soumaya}, year={2013}, month=sep, pages={578–583} } . Gene.
Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature @article{Ben_Abdallah_Bouhjar_2013, title={Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature}, volume={519}, ISSN={0378-1119}, url={http://dx.doi.org/10.1016/j.gene.2013.01.017}, DOI={10.1016/j.gene.2013.01.017}, number={1}, journal={Gene}, publisher={Elsevier BV}, author={Ben-Abdallah-Bouhjar, Inesse and Mougou-Zerelli, Soumya and Hannachi, Hanene and Ben-Khelifa, Hela and Soyah, Najla and Labalme, Audrey and Sanlaville, Damien and Elghezal, Hatem and Saad, Ali}, year={2013}, month=apr, pages={135–141} } . Gene.
A Combination of Micronucleus Assay and Fluorescence In Situ Hybridization Analysis to Evaluate the Genotoxicity of Formaldehyde @article{Bouraoui_2012, title={A Combination of Micronucleus Assay and Fluorescence In Situ Hybridization Analysis to Evaluate the Genotoxicity of Formaldehyde}, volume={64}, ISSN={1432-0703}, url={http://dx.doi.org/10.1007/s00244-012-9828-6}, DOI={10.1007/s00244-012-9828-6}, number={2}, journal={Archives of Environmental Contamination and Toxicology}, publisher={Springer Science and Business Media LLC}, author={Bouraoui, Sana and Mougou, Soumaya and Brahem, Aicha and Tabka, Faten and Ben Khelifa, Hela and Harrabi, Imed and Mrizek, Najib and Elghezal, Hatem and Saad, Ali}, year={2012}, month=nov, pages={337–344} } . Archives of Environmental Contamination and Toxicology.
Cryptic Rearrangements in Idiopathic Intellectual Disability Diagnosed by Molecular Cytogenetic Analysis @article{Bouhjar_2012, title={Cryptic Rearrangements in Idiopathic Intellectual Disability Diagnosed by Molecular Cytogenetic Analysis}, volume={12}, ISSN={2456-6330}, url={http://dx.doi.org/10.31901/24566330.2012/12.03.05}, DOI={10.31901/24566330.2012/12.03.05}, number={03}, journal={INTERNATIONAL JOURNAL OF HUMAN GENETICS}, publisher={Kamla Raj Enterprises}, author={Bouhjar, Inesse Ben Abdallah}, year={2012}, month=jun } . INTERNATIONAL JOURNAL OF HUMAN GENETICS.