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Ludmila Francescatto · SciRah

Researcher profile · Semantic Scholar

Ludmila Francescatto

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Ludmila Francescatto — researcher profile on SciRah

h-index: 13
Works: 25
Citations: 1,713

Most-cited papers

Disruptive CHD8 mutations define a subtype of autism early in development
R. Bernier, C. Golzio, Bo Xiong, H. Stessman +30 more
2014Cell769 citations Open access
Semantic Scholar
Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy
C. Gonzaga-Jauregui, T. Harel, T. Gambin, M. Kousi +30 more
2015Cell Reports248 citations Open access
Semantic Scholar
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
H. Hor, Ludmila Francescatto, Luca Bartesaghi, S. Ortega-Cubero +21 more
2015Human Molecular Genetics139 citations Open access
Semantic Scholar
Recessive Mutations in the a 3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia
M. Zech, Daniel D. Lam, Ludmila Francescatto, B. Schormair +11 more
81 citations
Semantic Scholar
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
Ravikumar Balasubramanian, Jin-Ho Choi, Ludmila Francescatto, J. Willer +15 more
2014Proceedings of the National Academy of Sciences of the United States of America76 citations Open access
Semantic Scholar
Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction
E. Bonora, F. Bianco, L. Cordeddu, M. Bamshad +22 more
2015Gastroenterology73 citations Open access
Semantic Scholar
The activation of membrane targeted CaMK-II in the zebrafish Kupffer's vesicle is required for left-right asymmetry
Ludmila Francescatto, Sarah C. Rothschild, Alexandra L. Myers, R. Tombes
2010Development69 citations Open access
Semantic Scholar
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Clothilde Estève, Ludmila Francescatto, P. L. Tan, A. Bourchany +33 more
2018American Journal of Human Genetics61 citations Open access
Semantic Scholar
A human laterality disorder caused by a homozygous deleterious mutation in MMP21
Z. Perles, S. Moon, Asaf Ta-Shma, B. Yaacov +5 more
2015Journal of Medical Genetics55 citations Open access
Semantic Scholar
Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis.
Sarah C. Rothschild, Charles A. Easley, Ludmila Francescatto, James A. Lister +2 more
2009Developmental Biology50 citations Open access
Semantic Scholar
CaMK-II is a PKD2 target that promotes pronephric kidney development and stabilizes cilia
Sarah C. Rothschild, Ludmila Francescatto, Iain A. Drummond, R. Tombes
2011Development40 citations Open access
Semantic Scholar
CaMK-II activation is essential for zebrafish inner ear development and acts through Delta-Notch signaling.
Sarah C. Rothschild, Jamie L. Lahvic, Ludmila Francescatto, J. Mcleod +2 more
2013Developmental Biology24 citations Open access
Semantic Scholar
Newborn Screening and the Era of Medical Genomics
Ludmila Francescatto, N. Katsanis
2015Seminars in Perinatology18 citations Open access
Semantic Scholar
RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes
Joseph L. Bundy, Blair R. Anderson, Ludmila Francescatto, M. Garrett +4 more
2019PLoS ONE5 citations Open access
Semantic Scholar
Immunostaining Phospho-epitopes in Ciliated Organs of Whole Mount Zebrafish Embryos.
Sarah C. Rothschild, Ludmila Francescatto, R. Tombes
2016Journal of Visualized Experiments3 citations Open access
Semantic Scholar
Specific CaMKIIs mediate convergent extension cell movements in early zebrafish development
J. Mcleod, Sarah C. Rothschild, Ludmila Francescatto, Haerin Kim +1 more
2023Developmental Dynamics1 citations Open access
Semantic Scholar
Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
L. Faivre, Clothilde Estève, Ludmila Francescatto, P. L. Tan +33 more
20191 citations
Semantic Scholar
Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A
Clothilde Estève, Ludmila Francescatto, P. L. Tan, A. Bourchany +33 more
2017bioRxiv1 citations Open access
Semantic Scholar
GWAS Meta-Analysis of Glomerular Filtration Rate in Three Cohorts of Sickle Cell Disease Patients and In Vivo Functional Analysis Reveals Potential Nephropathy Candidate Genes
Blair R. Anderson, M. Garrett, K. Soldano, E. Orringer +7 more
20160 citations
Semantic Scholar
Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO)
E. Bonora, F. Bianco, M. Bamshad, Dustin Dowless +13 more
20140 citations Open access
Semantic Scholar
Transient CaMK-II Activation is Necessary for Left-Right Asymmetry in the Zebrafish Embryo
Ludmila Francescatto
20120 citations
Semantic Scholar
CaMK-II mediates non-canonical Wnt-dependent morphogenic events during zebrafish gastrulation
M. Jamie, Sarah C. Rothschild, Ludmila Francescatto, R. Tombes
20100 citations Open access
Semantic Scholar
Membrane targeted CaMK-II is the Ca2+ sensor responsible for left–right asymmetry in zebrafish embryos
Ludmila Francescatto, Sarah C. Rothschild, Alexandra L. Myers, R. Tombes
20100 citations Open access
Semantic Scholar
AlphaKAP, a catalytically inactive CaMK-II, is required for left/right patterning
Ludmila Francescatto, Sarah C. Rothschild, R. Tombes
20090 citations Open access
Semantic Scholar
Tbx5-mediated β2 CaMK-II expression is required for heart looping and pectoral fin development
Sarah C. Rothschild, Charles A. Easley, Ludmila Francescatto, James A. Lister +2 more
20080 citations Open access
Semantic Scholar

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N. Katsanis×12
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N. Katsanis — researcher profile on SciRah
Sarah C. Rothschild×10
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