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Sophie Colombo

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
2016 · Slavé Petrovski, Sébastien Küry, et al. · The American Journal of Human Genetics · 125
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Nkx genes are essential for maintenance of ventricular identity
2013 · Kimara L. Targoff, Sophie Colombo, et al. · Development · 112
Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy
2020 · Amy N. Shore, Sophie Colombo, et al. · Cell Reports · 95
An early requirement for nkx2.5 ensures the first and second heart field ventricular identity and cardiac function into adulthood
2014 · Vanessa George, Sophie Colombo, et al. · Developmental Biology · 83
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A caveolin-dependent and PI3K/AKT-independent role of PTEN in β-catenin transcriptional activity
2015 · Alejandro Conde-Perez, Gwendoline Gros, et al. · Nature Communications · 80
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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
2018 · Parisa Hemati, Anya Revah‐Politi, et al. · American Journal of Medical Genetics Part A · 66
Transcriptomic Analysis of Mouse Embryonic Skin Cells Reveals Previously Unreported Genes Expressed in Melanoblasts
2011 · Sophie Colombo, Delphine Champeval, et al. · Journal of Investigative Dermatology · 65
Classical and Nonclassical Melanocytes in Vertebrates
2011 · Sophie Colombo, Irina Berlin, et al. · Wiley eBooks · 61
Phosphorylation of BRN2 Modulates Its Interaction with the Pax3 Promoter To Control Melanocyte Migration and Proliferation
2012 · Irina Berlin, Laurence Denat, et al. · Molecular and Cellular Biology · 39
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nkxgenes establish SHF cardiomyocyte progenitors at the arterial pole and pattern the venous pole through Isl1 repression
2017 · Sophie Colombo, Carmen de Sena-Tomás, et al. · Development · 32
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency
2023 · Sarah A. Dugger, Ryan S. Dhindsa, et al. · PLoS Genetics · 30
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A Subpopulation of Smooth Muscle Cells, Derived from Melanocyte-Competent Precursors, Prevents Patent Ductus Arteriosus
2013 · Ichiro Yajima, Sophie Colombo, et al. · PLoS ONE · 28
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Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor
2023 · Sophie Colombo, Haritha P. Reddy, et al. · Frontiers in Cellular Neuroscience · 21
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Stabilization of β-catenin promotes melanocyte specification at the expense of the Schwann cell lineage
2021 · Sophie Colombo, Valérie Petit, et al. · Development · 20
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Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels
2021 · Haritha P. Reddy, Daniel Yakubovich, et al. · iScience · 18
General strategy to analyse coat colour phenotypes in mice
2011 · Irina Berlin, Flavie Luciani, et al. · Pigment Cell & Melanoma Research · 16
G protein-coupled potassium channels implicated in mouse and cellular models of GNB1 Encephalopathy
2019 · Sophie Colombo, Sabrina Petri, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 14
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Flanking genomic region of Tyr::Cre mice, rapid genotyping for homozygous mice
2007 · Sophie Colombo, Valérie Petit, et al. · Pigment Cell Research · 13
Nkx2.5 regulates endothelin converting enzyme‐1 during pharyngeal arch patterning
2017 · Jennifer M. Iklé, Andre L. P. Tavares, et al. · genesis · 12
Genomic localization of the Z/EG transgene in the mouse genome
2009 · Sophie Colombo, Mayuko Kumasaka, et al. · genesis · 12
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice
2024 · Manon Fortier, Margaux Cauhapé, et al. · Neurobiology of Disease · 11
Zebrafish smarcc1a mutants reveal requirements for BAF chromatin remodeling complexes in distinguishing the atrioventricular canal from the cardiac chambers
2023 · Heidi J. Auman, Ivy H. Fernandes, et al. · Developmental Dynamics · 6
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Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study
2025 · S Colombo, BS Cowling, et al. · Journal of Neuromuscular Diseases · 3
Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study
2026 · Olga Prikhodko, Tatyana A. Vetter, et al. · Journal of Neuromuscular Diseases
Abstract CT087: Phase I/II FIH study of IPN60300, a first-in-class ADC targeting ITGA2, to assess the safety, tolerability, PK, biomarkers, immunogenicity and antitumor activity in adults with locally advanced solid tumors
2026 · Manish R. Sharma, Jiyan Zou, et al. · Cancer Research
Works count: 33
Citation count: 962
H-index: 16
I10-index: 21
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