| 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 | 130 | 2016 |
| 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 | 115 | 2013 |
| 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 | 92 | 2015 |
| Classical and nonclassical melanocytes in vertebrates S Colombo, I Berlin, V Delmas, L Larue Melanins and melanosomes: biosynthesis, biogenesis, physiological, and …, 2011 | 74 | 2011 |
| 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 | 72 | 2015 |
| 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 | 69 | 2020 |
| 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 | 60 | 2018 |
| 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 | 58 | 2012 |
| 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 | 40 | 2012 |
| 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 | 35 | 2018 |
| 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 | 27 | 2013 |
| GNB1 encephalopathy A Revah-Politi, TT Sands, S Colombo, DB Goldstein, K Anyane-Yeboa | 22 | 2021 |
| 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 | 16 | 2019 |
| 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 | 14 | 2023 |
| 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 | 14 | 2022 |
| 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 | 13 | 2007 |
| 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 | 12 | 2017 |
| Melanins and Melanosomes: Biosynthesis S Colombo, I Berlin, V Delmas, L Larue Biogenesis, Physiological, and Pathological Functions: Wiley-Blackwell, 2011 | 11 | 2011 |
| 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 | 10 | 2012 |
| Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels HP Reddy, D Yakubovich, T Keren-Raifman, G Tabak, VA Tsemakhovich, ... Iscience 24 (9), 2021 | 9 | 2021 |
Lionel LarueInstitut CurieVerified email at curie.fr
