The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt

Authors: Cocanougher, Benjamin T., Liu, Samuel W., Francescatto, Ludmila, Behura, Alexander, Anneling, Mariele, Jackson, David G., Deak, Kristen L., Hornik, Chi D., ElMallah, Mai K., Pizoli, Carolyn E., Smith, Edward C., Tan, Khoon Ghee Queenie, McDonald, Marie T.

Source: In Human Genetics and Genomics Advances 18 July 2024 5(3)

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Authors: Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz L., Bourchany, Aurélie, De Leusse, Cécile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Céline, Bruel, Ange-Line, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Hery, Géraldine, Huet, Frédéric, Gauchez, Philippe, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Rivière, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre

Source: In The American Journal of Human Genetics 1 March 2018 102(3):364-374

Specific CaMKIIs mediate convergent extension cell movements in early zebrafish development.

Authors: McLeod, Jamie J., Rothschild, Sarah C., Francescatto, Ludmila, Kim, Haerin, Tombes, Robert M.

Source: Developmental Dynamics; Apr2024, Vol. 253 Issue 4, p390-403, 14p

Subject Terms: CELL motility, BRACHYDANIO, CELL migration, PROTEIN kinases, GASTRULATION, SOMITE

P748: Duplication of 12q24.11-q24.31 in a patient with Noonan-like features

Authors: Francescatto, Ludmila, Cocanougher, Benjamin, Deak, Kristen, Rehder, Catherine, Rapisardo, Sarah, El-Gharbawy, Areeg, Rentas, Stefan

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Newborn screening and the era of medical genomics

Authors: Francescatto, Ludmila, Katsanis, Nicholas

Source: In Seminars in Perinatology December 2015 39(8):617-622

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Authors: Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie B., Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini N., Bainbridge, Matthew N., Lawson, Kim S., Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela J., Goksungur, Meryem T., Shy, Michael, Crawford, Thomas O., Koenig, Michel, Willer, Jason, Flores, Brittany N., Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna M., Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.

Source: In Cell Reports 18 August 2015 12(7):1169-1183

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Authors: Zech, Michael, Lam, Daniel D., Francescatto, Ludmila, Schormair, Barbara, Salminen, Aaro V., Jochim, Angela, Wieland, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Lochmüller, Hanns, Strom, Tim M., Haslinger, Bernhard, Katsanis, Nicholas, Winkelmann, Juliane

Source: In The American Journal of Human Genetics 4 June 2015 96(6):883-893

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Authors: Bonora, Elena, Bianco, Francesca, Cordeddu, Lina, Bamshad, Michael, Francescatto, Ludmila, Dowless, Dustin, Stanghellini, Vincenzo, Cogliandro, Rosanna F., Lindberg, Greger, Mungan, Zeynel, Cefle, Kivanc, Ozcelik, Tayfun, Palanduz, Sukru, Ozturk, Sukru, Gedikbasi, Asuman, Gori, Alessandra, Pippucci, Tommaso, Graziano, Claudio, Volta, Umberto, Caio, Giacomo, Barbara, Giovanni, D'Amato, Mauro, Seri, Marco, Katsanis, Nicholas, Romeo, Giovanni, De Giorgio, Roberto

Source: In Gastroenterology April 2015 148(4):771-782

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Authors: Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.

Source: In Cell 17 July 2014 158(2):263-276

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Authors: Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Tassan, Nada Al, Katsanis, Nicholas, Crowley, William F.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2014 Dec . 111(50), 17953-17958.

Access URL: https://www.jstor.org/stable/43278814

CaMK-II activation is essential for zebrafish inner ear development and acts through Delta–Notch signaling

Authors: Rothschild, Sarah C., Lahvic, Jamie, Francescatto, Ludmila, McLeod, Jamie J.A., Burgess, Shawn M., Tombes, Robert M.

Source: In Developmental Biology 1 September 2013 381(1):179-188

Tbx5-mediated expression of Ca2+/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis

Authors: Rothschild, Sarah C., Easley, Charles A., IV, Francescatto, Ludmila, Lister, James A., Garrity, Deborah M., Tombes, Robert M. ^⁎

Source: In Developmental Biology 1 June 2009 330(1):175-184

Co-existing genetic disorders in Pompe disease: Exome analysis of a large Pompe disease cohort identifies disease-modifying cryptic dual diagnoses.

Authors: Cocanougher, Benjamin¹ (AUTHOR), Francescatto, Ludmila² (AUTHOR), Huggins, Erin¹ (AUTHOR), Jung, Seung-Hye³ (AUTHOR), Kishnani, Priya S.³ (AUTHOR)

Source: Molecular Genetics & Metabolism. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.

Subject Terms: *GLYCOGEN storage disease type II, *GENETIC disorders, *DUAL diagnosis

RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes.

Authors: Bundy, Joseph L., Anderson, Blair R., Francescatto, Ludmila, Garrett, Melanie E., Soldano, Karen L., Telen, Marilyn J., Davis, Erica E., Ashley-Koch, Allison E.

Source: PLoS ONE; 6/3/2019, Vol. 14 Issue 6, p1-13, 13p

Subject Terms: NUCLEOTIDE sequence, CELL populations, POPULATION, VASCULAR endothelial cells, SICKLE cell anemia, MOLECULAR pathology

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RNA-Sequencing of Isolated Cell Populations Expressing Human APOL1 Risk Variants Reveals Molecular Correlates of Sickle Cell Nephropathy in Zebrafish Podocytes

Authors: Bundy, Joseph L, Anderson, Blair R ^*, Francescatto, Ludmila ^*, Garrett, Melanie E ^*, Soldano, Karen L ^*, Telen, Marilyn J., Davis, Erica E ^*, Ashley-Koch, Allison E ^*

Source: In Blood 8 December 2017 130 Supplement 1:2236-2236

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Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Authors: Hyun Hor, Francescatto, Ludmila, Bartesaghi, Luca, Ortega-Cubero, Sara, Kousi, Maria, Lorenzo-Betancor, Oswaldo, Jiménez-Jiménez, Felix J., Gironell, Alexandre, Clarimón, Jordi, Drechsel, Oliver, Agúndez, José A. G., Kenzelmann Broz, Daniela, Chiquet-Ehrismann, Ruth, Lleó, Alberto, Coria, Francisco, García-Martin, Elena, Alonso-Navarro, Hortensia, Martí, Maria J., Kulisevsky, Jaume, Hor, Charlotte N.

Source: Human Molecular Genetics; 10/15/2015, Vol. 24 Issue 20, p5677-5686, 10p