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Tinatin Tkemaladze

Observed names: T T Tkemaladze, T Tkemaladze, T. Tkemaladze, T.T. Tkemaladze, TINATIN TKEMALADZE, Tinatin (Tika) Tkemaladze, Tinatin Tkemladze, Tkemaladze Tinatin, Tkemaladze, Tinatin, tinatin tkemaladze, Т. T. Тkemaladze, Т. Т. Тkemaladze
Observed institutions: Aga Khan University, King Faisal Specialist Hospital & Research Centre, IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola, David Tvildiani Medical University, St. Christopher's Hospital for Children, Syracuse University, Tbilisi State Medical University, RWTH Aachen University
ORCID: 0000-0003-1924-6695
Observed ORCID: 0000-0003-1924-6695
OpenAlex ID: A5079365578
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
2023 · Maninder Kaur, Justin Blair, et al. · American Journal of Medical Genetics Part A · 42
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
2023 · Lama AlAbdi, Sateesh Maddirevula, et al. · Nature Communications · 41
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Natural history of KBG syndrome in a large European cohort
2022 · Lorenzo Loberti, Lucia Pia Bruno, et al. · Human Molecular Genetics · 35
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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
2022 · Ligia S. Almeida, Catarina Pereira, et al. · European Journal of Human Genetics · 29
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
2023 · Hellen Lesmann, Alexander Hustinx, et al. · medRxiv · 25
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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
2023 · Ariane Schmetz, Hermann-Josef Lüdecke, et al. · Human Genetics · 23
Risk of meningomyelocele mediated by the common 22q11.2 deletion
2024 · Keng Ioi Vong, Keng Ioi Vong, et al. · Science · 22
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
2021 · Annemiek M.J. van Wegberg, Friedrich Trefz, et al. · The Journal of Pediatrics · 20
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The contribution of de novo coding mutations to meningomyelocele
2025 · Yoo-Jin Jiny Ha, Ashna Nisal, et al. · Nature · 15
Natural history of adults with KBG syndrome: A physician-reported experience
2024 · Allan Bayat, Hannah Grimes, et al. · Genetics in Medicine · 12
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
2024 · Angelica Maria Delgado-Vega, Helene Cederroth, et al. · Nature Genetics · 10
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
2024 · Rauan Kaiyrzhanov, Nazira Zharkinbekova, et al. · Nature Genetics · 7
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MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly
2023 · Tinatin Tkemaladze, Eirik Bratland, et al. · Clinical Dysmorphology · 6
Epigenetic regulation of acute inflammatory pain.
2014 · E Abzianidze, E Kvaratskhelia, et al. · PubMed · 6
Population-specific calibration and validation of an open-source bone age AI
2025 · Sebastian Rassmann, Luka Abashishvili, et al. · Scientific Reports · 5
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.( Ala636Thr ) variant
2024 · Nicolai Kohring Tvergaard, Tinatin Tkemaladze, et al. · Clinical Genetics · 5
A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report
2024 · Kakha Bregvadze, Anastasia Sukhiashvili, et al. · SAGE Open Medical Case Reports · 5
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
2022 · Anthony Cheung, Catherine Argyriou, et al. · Neurogenetics · 5
First case report of Nager syndrome patient from Georgia
2022 · Tinatin Tkemaladze, Kakha Bregvadze, et al. · SAGE Open Medical Case Reports · 5
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders
2025 · Tinatin Tkemladze, Christopher Campbell, et al. · European Journal of Human Genetics · 4
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Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene
2025 · Natasha L. Rudy, Adriana Gomes, et al. · American Journal of Medical Genetics Part A · 4
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Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report
2025 · Kakha Bregvadze, Nino Kheladze, et al. · Clinical Medicine Insights Endocrinology and Diabetes · 4
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series
2024 · Kakha Bregvadze, Luka Abashishvili, et al. · Frontiers in Genetics · 4
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
2024 · Tzung-Chien Hsieh, Hellen Lesmann, et al. · Research Square · 4
A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
2023 · Tinatin Tkemaladze, Kakha Bregvadze, et al. · Frontiers in Medicine · 4
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Works count: 79
Citation count: 382
H-index: 10
I10-index: 11
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