Sophie Thomas

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

44h-index6.9kcitations212works1.32yr avg
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Research Topics

Ion Transport and Channel Regulation(38), Genetic and Kidney Cyst Diseases(37), Electrolyte and hormonal disorders(24), Hedgehog Signaling Pathway Studies(24), Renal function and acid-base balance(15)

Publications212 total

Exploring Medical Student and Staff Perspectives on Clinical Placements: Factors Influencing Attendance and Engagement
Cureus·2025· 1 citedOpen Access
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification
Nature Communications·2025· 3 citedOpen Access
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis
European Journal of Human Genetics·2025· 5 citedOpen Access
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids
PLoS Genetics·2024· 3 citedOpen Access
A Survey on Agricultural E-Commerce Application for Small Scale Farmers with Crop Yield Prediction
International Journal of Advances in Engineering and Management·2024Open Access
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification
2024Open Access
A TALS-like <i>RTTN</i> mutation impedes neural rosette formation in human cortical organoids
2024Open Access
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification
2024Open Access
Metaverse and the Future of Work—A Higher Education Perspective
Information systems engineering and management·2024
Patients’ Use of a Standardized Medication List - A Mixed Methods Study
Patient Preference and Adherence·2023· 9 citedOpen Access
CROSSTALK BETWEEN PROTOCADHERIN 8 AND TRANSCRIPTION FACTOR DBX1 REGULATE CELL FATE IN THE DEVELOPING CEREBRAL CORTEX
IBRO Neuroscience Reports·2023Open Access
Implementing standardized medication plans in ambulatory care – Are they correct and do patients follow their plan?
Research Square (Research Square)·2023Open Access
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla
Acta Neuropathologica Communications·2023· 15 citedOpen Access
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development
Journal of Visualized Experiments·2022· 3 cited
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development
Journal of Visualized Experiments·2022· 5 citedOpen Access
Ways of Listening: Birdsong, Poetry, and Sustainability in Education
Palgrave studies in education and the environment·2022
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human
Frontiers in Molecular Neuroscience·2021· 4 citedOpen Access
The first two <scp> non‐Finnish <i>HYLS1</i> </scp> variants: Expanding the phenotypic spectrum of hydrolethalus syndrome
Clinical Genetics·2021· 2 cited
Author response for "The first Two non‐Finnish HYLS1 Variants: expanding the phenotypic spectrum of Hydrolethalus Syndrome"
2021Open Access
TALPID3/KIAA0586 regulates multiple aspects of neuromuscular patterning during gastrointestinal development in animal models and human
2021· 1 citedOpen Access
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Frequent Co-authors

Tania Attié‐Bitach(22), Michel Vekemans(15), Arnold Münnich(13), Nadia Elkhartoufi(13), Stanislas Lyonnet(12), Sophie Saunier(9), Nathalie Boddaert(7), Heather Etchevers(6), Enza Maria Valente(6), Erica E. Davis(6), Nicholas Katsanis(6), Valérie Cormier‐Daire(6), Férechté Encha‐Razavi(6), Jeanne Amiel(5), Colin A. Johnson(5), Patrick Nitschké(5), Soumaya Mougou-Zerelli(4), Francesco Brancati(4), Miriam Iannicelli(4), Friedhelm Hildebrandt(4)