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T. Yammine · SciRah

Researcher profile · Semantic Scholar

T. Yammine

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T. Yammine — researcher profile on SciRah

h-index: 6
Works: 16
Citations: 102

Most-cited papers

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy
H. Dafsari, Joshua G. Pemberton, E. Ferrer, T. Yammine +14 more
2022Annals of Clinical and Translational Neurology20 citations Open access
Semantic Scholar
Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever
Rudy Feghali, José-Noel Ibrahim, Nabiha Salem, Romy Moussallem +4 more
2025Frontiers in Genetics19 citations Open access
Semantic Scholar
Chromosomal instability in cancers of unknown primary.
A. Chebly, T. Yammine, S. Boussios, N. Pavlidis +1 more
2022European Journal of Cancer17 citations
Semantic Scholar
A homozygous missense variant in PTPN2 with early-onset Crohn’s disease, growth failure and dysmorphic features in an infant: a case report
J. Awwad, M. Souaid, T. Yammine, A. Chebly +3 more
2023Journal Genetika10 citations
Semantic Scholar
Deciphering balanced translocations in infertile males by Next Generation Sequencing to identify candidate genes for spermatogenesis disorders.
T. Yammine, N. Reynaud, H. Lejeune, F. Diguet +7 more
2021Molecular human reproduction8 citations
Semantic Scholar
Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.
Marianne Touma Boulos, A. Moukarzel, T. Yammine, N. Salem +2 more
2020Clinical Dysmorphology7 citations
Semantic Scholar
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants
Melissa Daou, M. Souaid, T. Yammine, I. Khneisser +6 more
2023Molecular Genetics & Genomic Medicine5 citations Open access
Semantic Scholar
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy
Raffi Aprahamian, T. Yammine, N. Salem, M. Souaid +2 more
2021Ophthalmic Genetics5 citations
Semantic Scholar
Novel SCN9A variant associated with congenital insensitivity to pain
T. Yammine, Raffi Aprahamian, M. Souaid, Nabiha Salem +2 more
2023Molecular Biology Reports4 citations Open access
Semantic Scholar
Pediatric M5 acute myeloid leukemia with MLL-SEPT6 fusion and a favorable outcome
A. Chebly, Claudia Djambas Khayat, T. Yammine, Rima Korban +3 more
2021Leukemia Research Reports3 citations Open access
Semantic Scholar
A rare case of acute myeloid leukemia with t(12;19)(q13;q13)
A. Chebly, F. Haddad, J. Bassil, T. Yammine +5 more
2020Leukemia Research Reports2 citations Open access
Semantic Scholar
Current evidences of BRCA mutations in genitourinary and gynecologic tumors: a scoping review
A. Chebly, T. Yammine, E. Rassy, S. Boussios +2 more
2021Precision Cancer Medicine1 citations Open access
Semantic Scholar
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population
C. Farra, J. Awwad, Lama Hamadeh, P. Khoueiry +7 more
2021Annals of Human Genetics1 citations
Semantic Scholar
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.
J. Awwad, T. Yammine, Layal Hamdar, M. Souaid +1 more
2023Clinical Dysmorphology0 citations
Semantic Scholar
KYSTE FOLLICULAIRE DENTAIRE ASSOCIÉ À UNE MUTATION DE NOVO DE L’EDA: A PROPOS D’UN CAS CLINIQUE FOLLICULAR CYST ASSOCIATED WITH A DE NOVO EDA MUTATION: A CASE REPORT.
R. Khalil, T. Yammine, Nadim Mokbel, C. Farra +1 more
20210 citations
Semantic Scholar
Follicular cyst associated with a de novo EDA mutation: A case report.
R. Aboukhalil, T. Yammine, N. Mokbel, Chantal Farra +1 more
2021International Arab Journal of Dentistry0 citations
Semantic Scholar

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