Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder

Authors: Pavinato, Lisa, Stanic, Jennifer, Barzasi, Marta, Gurgone, Antonia, Chiantia, Giuseppe, Cipriani, Valentina, Eberini, Ivano, Palazzolo, Luca, Di Luca, Monica, Costa, Alex, Marcantoni, Andrea, Biamino, Elisa, Spada, Marco, Hiatt, Susan M., Kelley, Whitley V., Vestito, Letizia, Sisodiya, Sanjay M., Efthymiou, Stephanie, Chand, Prem, Kaiyrzhanov, Rauan, Bruselles, Alessandro, Cardaropoli, Simona, Tartaglia, Marco, De Rubeis, Silvia, Buxbaum, Joseph D., Smedley, Damian, Ferrero, Giovanni Battista, Giustetto, Maurizio, Gardoni, Fabrizio, Brusco, Alfredo

Source: In Genetics in Medicine November 2023 25(11)

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Authors: Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

Source: In Human Genetics and Genomics Advances 13 January 2022 3(1)

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

Authors: Kerkhof, Jennifer, Squeo, Gabriella Maria, McConkey, Haley, Levy, Michael A., Piemontese, Maria Rosaria, Castori, Marco, Accadia, Maria, Biamino, Elisa, Della Monica, Matteo, Di Giacomo, Marilena Carmela, Gervasini, Cristina, Maitz, Silvia, Melis, Daniela, Milani, Donatella, Piccione, Maria, Prontera, Paolo, Selicorni, Angelo, Sadikovic, Bekim, Merla, Giuseppe

Source: In Genetics in Medicine January 2022 24(1):51-60

A novel COLEC10 mutation in a child with 3MC syndrome

Authors: Migliorero, Martina, Kalantari, Silvia, Bracciamà, Valeria, Sorbini, Monica, Arruga, Francesca, Peruzzi, Licia, Biamino, Elisa, Amoroso, Antonio, Vaisitti, Tiziana, Deaglio, Silvia

Source: In European Journal of Medical Genetics December 2021 64(12)

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Authors: Chowdhury, Fuad, Wang, Lei, Al-Raqad, Mohammed, Amor, David J., Baxová, Alice, Bendová, Šárka, Biamino, Elisa, Brusco, Alfredo, Caluseriu, Oana, Cox, Nancy J., Froukh, Tawfiq, Gunay-Aygun, Meral, Hančárová, Miroslava, Haynes, Devon, Heide, Solveig, Hoganson, George, Kaname, Tadashi, Keren, Boris, Kosaki, Kenjiro, Kubota, Kazuo, Lemons, Jennifer M., Magriña, Maria A., Mark, Paul R., McDonald, Marie T., Montgomery, Sarah, Morley, Gina M., Ohnishi, Hidenori, Okamoto, Nobuhiko, Rodriguez-Buritica, David, Rump, Patrick, Sedláček, Zdeněk, Schatz, Krista, Streff, Haley, Uehara, Tomoko, Walia, Jagdeep S., Wheeler, Patricia G., Wiesener, Antje, Zweier, Christiane, Kawakami, Koichi, Wentzensen, Ingrid M., Lalani, Seema R., Siu, Victoria M., Bi, Weimin, Balci, Tugce B.

Source: In Genetics in Medicine July 2021 23(7):1234-1245

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability

Authors: Menduti, Giovanna, Biamino, Elisa, Vittorini, Roberta, Vesco, Serena, Puccinelli, Maria Paola, Porta, Francesco, Capo, Concetta, Leo, Sara, Ciminelli, Bianca Maria, Iacovelli, Federico, Spada, Marco, Falconi, Mattia, Malaspina, Patrizia, Rossi, Luisa

Source: In Molecular Genetics and Metabolism July 2018 124(3):210-215

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes

Authors: Giorgio, Elisa, Brussino, Alessandro, Biamino, Elisa, Belligni, Elga Fabia, Bruselles, Alessandro, Ciolfi, Andrea, Caputo, Viviana, Pizzi, Simone, Calcia, Alessandro, Di Gregorio, Eleonora, Cavalieri, Simona, Mancini, Cecilia, Pozzi, Elisa, Ferrero, Marta, Riberi, Evelise, Borelli, Iolanda, Amoroso, Antonio, Ferrero, Giovanni Battista, Tartaglia, Marco, Brusco, Alfredo

Source: In European Journal of Paediatric Neurology May 2017 21(3):475-484

Prevention and management of hearing loss in syndromic craniosynostosis: A case series

Authors: Biamino, Elisa, Canale, Andrea, Lacilla, Michelangelo, Marinosci, Annalisa, Dagna, Federico, Genitori, Lorenzo, Peretta, Paola, Silengo, Margherita, Albera, Roberto, Ferrero, Giovanni Battista

Source: In International Journal of Pediatric Otorhinolaryngology June 2016 85:95-98

P212: Modifiers of arterial stenosis in Williams syndrome: Using genomics to discover drivers of vessel-specific outcomes

Authors: Golbus, Ashley, Liu, Delong, Levin, Mark, Raja, Neelam, Biamino, Elisa, Bedeschi, Maria, Digilio, Maria, Squeo, Gabriella, Villa, Roberta, Freeman, Joy Lynne, Osgood, Sharon, Merla, Giuseppe, Pober, Barbara, Mervis, Carolyn, Roberts, Amy, Morris, Colleen, Osborne, Lucy, Kozel, Beth

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

Authors: Delong Liu, Billington Jr, Charles J., Raja, Neelam, Wong, Zoe C., Levin, Mark D., Resch, Wulfgang, Alba, Camille, Hupalo, Daniel N., Biamino, Elisa, Bedeschi, Maria Francesca, Digilio, Maria Cristina, Squeo, Gabriella Maria, Villa, Roberta, Parrish, Pheobe C. R., Knutsen, Russell H., Osgood, Sharon, Freeman, Joy A., Dalgard, Clifton L., Merla, Giuseppe, Pober, Barbara R.

Source: Journal of the American Heart Association; 2/6/2024, Vol. 13 Issue 3, p1-15, 15p

Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations

Authors: Gandin, Ilaria, Faletra, Flavio, Faletra, Francesca, Carella, Massimo, Pecile, Vanna, Ferrero, Giovanni B., Biamino, Elisa, Palumbo, Pietro, Palumbo, Orazio, Bosco, Paolo, Romano, Corrado, Belcaro, Chiara, Vozzi, Diego, d’Adamo, Adamo P.

Source: In Genetics in Medicine May 2015 17(5):391-395

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Authors: Gandin, Ilaria, Faletra, Flavio, Faletra, Francesca, Carella, Massimo, Pecile, Vanna, Ferrero, Giovanni B., Biamino, Elisa, Palumbo, Pietro, Palumbo, Orazio, Bosco, Paolo, Romano, Corrado, Belcaro, Chiara, Vozzi, Diego, d’Adamo, Adamo P.

Source: In Genetics in Medicine May 2015 17(5):396-399

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Authors: Maas, Saskia M., Shaw, Adam C., Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R., Cobben, JanMaarten, de Man, Stella A., Den Hollander, Nicolette S., Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C., Hoogeboom, A. Jeannette M., Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B., Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B., Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M., Verheij, Joke B.G.M., Mannens, Marcel M., Hennekam, Raoul C.

Source: In European Journal of Medical Genetics May 2015 58(5):279-292

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders.

Authors: Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat‐Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin

Source: Human Mutation; Nov2022, Vol. 43 Issue 11, p1609-1628, 20p

Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients

Authors: Ferrero, Giovanni Battista, Biamino, Elisa, Sorasio, Lorena, Banaudi, Elena, Peruzzi, Licia, Forzano, Serena, Verdun di Cantogno, Ludovica, Silengo, Margherita Cirillo

Source: In European Journal of Medical Genetics 2007 50(5):327-337

PIGN encephalopathy: Characterizing the epileptology.

Authors: Bayat, Allan, de Valles‐Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro‐Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, des Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali

Source: Epilepsia (Series 4); Apr2022, Vol. 63 Issue 4, p974-991, 18p

Subject Terms: EPILEPSY, BRAIN diseases, PARTIAL epilepsy, MOVEMENT disorders, PEOPLE with epilepsy, AGE of onset

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

Authors: Faravelli Francesca, Pierluigi Mauro, Messa Jole, Molinatto Cristina, Biamino Elisa, Belligni Elga F, Zuffardi Orsetta, Ferrero Giovanni B, Silengo Margherita

Source: Italian Journal of Pediatrics, Vol 35, Iss 1, p 9 (2009)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.ijponline.net/content/35/1/9; https://doaj.org/toc/1720-8424; https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/df1a97f9509442c882cdd4b59c685ad8

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

Authors: Pettinato, Fabio, Mostile, Giovanni, Battini, Roberta, Martinelli, Diego, Madeo, Annalisa, Biamino, Elisa, Frattini, Daniele, Garozzo, Domenico, Gasperini, Serena, Parini, Rossella, Sirchia, Fabio, Sortino, Giuseppe, Sturiale, Luisa, Matthijs, Gert, Morrone, Amelia, Di Rocco, Maja, Rizzo, Renata, Jaeken, Jaak, Fiumara, Agata, Barone, Rita

Source: Cerebellum; Aug2021, Vol. 20 Issue 4, p596-605, 10p

Subject Terms: CONGENITAL disorders, ACTIVITIES of daily living, ATROPHY, FUNCTIONAL assessment, DISABILITIES, AGE distribution

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Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

Authors: Morgan, Anna, Gandin, Ilaria, Belcaro, Chiara, Palumbo, Pietro, Palumbo, Orazio, Biamino, Elisa, Dal Col, Valentina, Laurini, Erik, Pricl, Sabrina, Bosco, Paolo, Carella, Massimo, Ferrero, Giovanni Battista, Romano, Corrado, d’Adamo, Adamo Pio, Faletra, Flavio, Vozzi, Diego

Source: In Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis November 2015 781:32-36