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Sophie Colombo
Sophie Colombo
Associate Research Scientist, Columbia University
Verified email at cumc.columbia.edu
Title
Cited by
Cited by
Year
Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures
S Petrovski, S Küry, CT Myers, K Anyane-Yeboa, B Cogné, M Bialer, F Xia, ...
The American Journal of Human Genetics 98 (5), 1001-1010, 2016
1192016
Nkx genes are essential for maintenance of ventricular identity
KL Targoff, S Colombo, V George, T Schell, SH Kim, L Solnica-Krezel, ...
Development 140 (20), 4203-4213, 2013
1112013
An early requirement for nkx2.5 ensures the first and second heart field ventricular identity and cardiac function into adulthood
V George, S Colombo, KL Targoff
Developmental biology 400 (1), 10-22, 2015
872015
Classical and nonclassical melanocytes in vertebrates
S Colombo, I Berlin, V Delmas, L Larue
Melanins and melanosomes: biosynthesis, biogenesis, physiological, and …, 2011
722011
A caveolin-dependent and PI3K/AKT-independent role of PTEN in β-catenin transcriptional activity
A Conde-Perez, G Gros, C Longvert, M Pedersen, V Petit, Z Aktary, ...
Nature communications 6 (1), 8093, 2015
692015
Transcriptomic analysis of mouse embryonic skin cells reveals previously unreported genes expressed in melanoblasts
S Colombo, D Champeval, F Rambow, L Larue
Journal of investigative dermatology 132 (1), 170-178, 2012
592012
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
P Hemati, A Revah‐Politi, H Bassan, S Petrovski, CG Bilancia, K Ramsey, ...
American journal of medical genetics Part A 176 (11), 2259-2275, 2018
552018
Reduced GABAergic neuron excitability, altered synaptic connectivity, and seizures in a KCNT1 gain-of-function mouse model of childhood epilepsy
AN Shore, S Colombo, WF Tobin, S Petri, ER Cullen, S Dominguez, ...
Cell reports 33 (4), 2020
492020
Phosphorylation of BRN2 modulates its interaction with the Pax3 promoter to control melanocyte migration and proliferation
I Berlin, L Denat, AL Steunou, I Puig, D Champeval, S Colombo, ...
Molecular and cellular biology 32 (7), 1237-1247, 2012
362012
Nkx genes establish second heart field cardiomyocyte progenitors at the arterial pole and pattern the venous pole through Isl1 repression
S Colombo, C de Sena-Tomás, V George, AA Werdich, S Kapur, ...
Development 145 (3), dev161497, 2018
322018
A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus
I Yajima, S Colombo, I Puig, D Champeval, M Kumasaka, E Belloir, ...
PLoS One 8 (1), e53183, 2013
262013
GNB1 encephalopathy
A Revah-Politi, TT Sands, S Colombo, DB Goldstein, K Anyane-Yeboa
192021
G protein-coupled potassium channels implicated in mouse and cellular models of GNB1 Encephalopathy
S Colombo, S Petri, B Shalomov, HP Reddy, G Tabak, RS Dhindsa, ...
BioRxiv, 697235, 2019
162019
Flanking genomic region of Tyr:: Cre mice, rapid genotyping for homozygous mice
S Colombo, V Petit, M Kumasaka, V Delmas, L Larue
Pigment cell research 20 (4), 305-306, 2007
122007
General strategy to analyse coat colour phenotypes in mice.
I Berlin, F Luciani, SJ Gallagher, F Rambow, A Conde-Perez, S Colombo, ...
Pigment cell & melanoma research 25 (1), 2012
112012
Nkx2. 5 regulates endothelin converting enzyme‐1 during pharyngeal arch patterning
JM Iklé, ALP Tavares, M King, H Ding, S Colombo, BA Firulli, AB Firulli, ...
genesis 55 (3), e23021, 2017
102017
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency
SA Dugger, RS Dhindsa, GDA Sampaio, AK Ressler, EE Rafikian, S Petri, ...
Plos Genetics 19 (10), e1010952, 2023
92023
Stabilization of β-catenin promotes melanocyte specification at the expense of the Schwann cell lineage
S Colombo, V Petit, RY Wagner, D Champeval, I Yajima, F Gesbert, ...
Development 149 (2), dev194407, 2022
92022
Melanins and Melanosomes: Biosynthesis
S Colombo, I Berlin, V Delmas, L Larue
Biogenesis, Physiological, and Pathological Functions: Wiley-Blackwell, 2011
92011
Genomic localization of the Z/EG transgene in the mouse genome
S Colombo, M Kumasaka, C Lobe, L Larue
genesis 48 (2), 96-100, 2010
92010
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