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Ludmila Francescatto

Observed names: Francescatto, L., Francescatto, Ludmila
OpenAlex ID: A5020118521
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
2014 · Raphael Bernier, Christelle Golzio, et al. · Cell · 786
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
2015 · Claudia Gonzaga-Jauregui, Tamar Harel, et al. · Cell Reports · 242
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Missense mutations in TENM4 , a regulator of axon guidance and central myelination, cause essential tremor
2015 · Hyun Hor, Ludmila Francescatto, et al. · Human Molecular Genetics · 138
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Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia
2015 · Michael Zech, Daniel D. Lam, et al. · The American Journal of Human Genetics · 85
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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
2014 · Ravikumar Balasubramanian, Jin-Ho Choi, et al. · Proceedings of the National Academy of Sciences · 80
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Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction
2015 · Elena Bonora, Francesca Bianco, et al. · Gastroenterology · 79
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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
2018 · Clothilde Esteve, Ludmila Francescatto, et al. · The American Journal of Human Genetics · 67
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The activation of membrane targeted CaMK-II in the zebrafish Kupffer's vesicle is required for left-right asymmetry
2010 · Ludmila Francescatto, Sarah C. Rothschild, et al. · Development · 62
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A human laterality disorder caused by a homozygous deleterious mutation in MMP21
2015 · Zeev Perles, Sungjin Moon, et al. · Journal of Medical Genetics · 59
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Tbx5-mediated expression of Ca2+/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis
2009 · Sarah C. Rothschild, Charles A. Easley, et al. · Developmental Biology · 44
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CaMK-II is a PKD2 target that promotes pronephric kidney development and stabilizes cilia
2011 · Sarah C. Rothschild, Ludmila Francescatto, et al. · Development · 36
Newborn screening and the era of medical genomics
2015 · Ludmila Francescatto, Nicholas Katsanis · Seminars in Perinatology · 22
CaMK-II activation is essential for zebrafish inner ear development and acts through Delta–Notch signaling
2013 · Sarah C. Rothschild, Jamie Lahvic, et al. · Developmental Biology · 20
RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes
2019 · Joseph L. Bundy, Blair R. Anderson, et al. · PLoS ONE · 5
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt
2024 · Benjamin T. Cocanougher, Samuel W. Liu, et al. · Human Genetics and Genomics Advances · 4
Immunostaining Phospho-epitopes in Ciliated Organs of Whole Mount Zebrafish Embryos
2016 · Sarah C. Rothschild, Ludmila Francescatto, et al. · Journal of Visualized Experiments · 3
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Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing
2025 · Iskren Menkovic, Neelam Makhijani, et al. · Molecular Genetics and Metabolism Reports · 1
Specific CaMKIIs mediate convergent extension cell movements in early zebrafish development
2023 · Jamie J. McLeod, Sarah C. Rothschild, et al. · Developmental Dynamics · 1
Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
2019 · Faivre, L., Esteve, Clothilde, et al. · HAL · 1
Ocular morbidity in uveal melanocytoma associated with MEN1 syndrome
2026 · Deanna Ingrassia Miano, Arpita Maniar, et al. · American Journal of Ophthalmology Case Reports
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P669: Laboratory genetic testing for products of conception: Is one test sufficient?
2026 · Shruthi Mohan, Kristen Deak, et al. · Genetics in Medicine Open
P652: Utility of SNP chromosomal microarray in neonatal testing
2026 · Isabel Ganzert, Kristen Deak, et al. · Genetics in Medicine Open
P484: Congenital knee and hip dislocations with brain malformation in an infant with a supernumerary chromosome +der(9)t(5;9)
2025 · Milap Patel, Shruthi Mohan, et al. · Genetics in Medicine Open
Co-existing genetic disorders in Pompe disease: Exome analysis of a large Pompe disease cohort identifies disease-modifying cryptic dual diagnoses
2024 · Benjamin Cocanougher, Ludmila Francescatto, et al. · Molecular Genetics and Metabolism
P748: Duplication of 12q24.11-q24.31 in a patient with Noonan-like features
2024 · Ludmila Francescatto, Benjamin Cocanougher, et al. · Genetics in Medicine Open
Works count: 34
Citation count: 1,735
H-index: 13
I10-index: 13
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